The Journal of Bone & Joint Surgery

The Journal of Bone & Joint Surgery, Volume 93, Issue 13

Case Reports | July 06, 2011

Twenty-Year Follow-up of Monostotic Fibrous Dysplasia of the Second Cervical Vertebra: A Case Report and Review of the Literature

Dennis S. Meredith, MD¹; John H. Healey, MD²

¹ Hospital for Special Surgery, 535 East 70th Street, New York, NY 10021. E-mail address: meredithd@hss.edu
² Orthopedic Service, Memorial Sloan-Kettering Cancer Center, 1275 York Avenue, New York, NY 10065

View Disclosures and Other Information

Disclosure: None of the authors received payments or services, either directly or indirectly (i.e., via his or her institution), from a third party in support of any aspect of this work. One or more of the authors, or his or her institution, has had a financial relationship, in the thirty-six months prior to submission of this work, with an entity in the biomedical arena that could be perceived to influence or have the potential to influence what is written in this work. No author has had any other relationships, or has engaged in any other activities, that could be perceived to influence or have the potential to influence what is written in this work. The complete Disclosures of Potential Conflicts of Interest submitted by the authors of this work are available with the online version of this article at jbjs.org.

Disclosure statement for author(s): PDF

Investigation performed at Memorial Sloan-Kettering Cancer Center, New York, NY

J Bone Joint Surg Am, 2011 Jul 06;93(13):e74 1-7. doi: 10.2106/JBJS.J.01881

5 Recommendations (Recommend) | 3 Comments | Saved by 3 Users Save Case

Article

Comments (0)

text A A A

Extract

We present a twenty-year follow-up report on a patient with monostotic fibrous dysplasia of C2 treated with posterior spinal fusion from C1 to C3. The short-term results of this case have been presented previously¹. This is one of the longest durations of follow-up of monostotic fibrous dysplasia of the spine reported in the literature, and it demonstrated monostotic fibrous dysplasia extending through the fusion mass to involve a previously unaffected vertebra. This behavior may provide new insight into the pathophysiology of fibrous dysplasia.

Figures in this Article

Introduction

Introduction | Case Report | Discussion | References

Fibrous dysplasia is a benign intramedullary fibro-osseous lesion originally described by Lichtenstein² in 1938 and Lichtenstein and Jaffe³ in 1942. Fibrous dysplasia can present in one bone (monostotic fibrous dysplasia) or multiple bones (polyostotic fibrous dysplasia) and can be associated with café au lait spots and endocrinopathies (McCune-Albright syndrome) or soft-tissue masses (Mazabraud syndrome). Fibrous dysplasia is relatively common, accounting for approximately 7% of benign bone tumors⁴. However, monostotic fibrous dysplasia involving the spine is quite rare. Dahlin and Unni⁵ noted only six cases (1.4%) involving the spine in their review of 418 cases of monostotic fibrous dysplasia.

We reviewed the literature to delineate the clinical, radiographic, and pathologic features of monostotic fibrous dysplasia of the spine. Given the rarity of monostotic fibrous dysplasia of the spine, a thorough search of PubMed/MEDLINE was performed with use of the terms "monostotic fibrous dysplasia" and "spine." The abstracts of all results were then reviewed for relevance. Additional studies were identified by reviewing the references listed in studies found by the literature search. Only studies that clearly delineated the lesions as monostotic fibrous dysplasia and in which an anatomic location within the spine was reported were included. This methodology allowed us to identify more cases of monostotic fibrous dysplasia involving the spine than have been reported previously.

Case Report

Introduction | Case Report | Discussion | References

A forty-one-year-old otherwise healthy man presented with aching neck pain, which he had had for approximately six months, and leg pain, which he had had for two weeks. He denied having had numbness, weakness, paresthesias, or bowel or bladder incontinence. No skin lesions or soft-tissue masses were noted. There was no limitation of neck motion and no local mass or tenderness. The findings of the neurologic examination were unremarkable.

Imaging studies obtained at presentation included bone scintigraphy demonstrating isolated uptake at the C2 vertebra as well as radiographs, computed tomographic scanning (CT), and magnetic resonance imaging (MRI) demonstrating an expansile, destructive lesion involving both the anterior and the posterior elements of the vertebral body with slight narrowing of the spinal canal and no involvement of surrounding structures (Fig. 1).

Fig. 1

Preoperative imaging. A: Lateral cervical spine radiograph illustrating the lytic, expansile nature of the lesion of C2. B: Axial CT scan of C2 showing destruction of the anterior cortex, right lamina, and transverse process without soft-tissue involvement or neural compression. (Reprinted from: Hu SS, Healey JH, Huvos AG. Fibrous dysplasia of the second cervical vertebra. A case report. J Bone Joint Surg Am. 1990;72:781-3.)

View Large | Download Slide(.ppt)
Add to My JBJS

A halo was placed preoperatively. Intraoperatively, the posterior elements of C2 were distorted and soft. They were removed, and a histologic study confirmed the diagnosis of fibrous dysplasia. A posterior spinal fusion was performed from C1 to C3 with use of two corticocancellous grafts from the posterior iliac crest, which were stabilized with use of a sublaminar wire at C1 and two spinous process wires at C3. Osseous fusion was evident at fourteen weeks. The postoperative clinical course was unremarkable.

At twenty years postoperatively, the patient was pain-free without any neurologic deficit or disability. He noted only a mild loss of rotational movement of the cervical spine. Routine follow-up radiographs demonstrated an expansile fusion mass with the classic ground-glass opacity appearance extending to involve C3 (Fig. 2). Subsequent MRI similarly demonstrated fibrous dysplasia involving C2 with extension through the fusion mass into the posterior elements of C3 (Fig. 3). An MR angiogram showed no compression of the vertebral arteries.

Fig. 2

Twenty-year follow-up radiographs. A: Lateral cervical spine radiograph showing a large fusion mass with expansile, lytic changes and the typical ground-glass appearance of fibrous dysplasia involving C1-C3. B and C: Anteroposterior and open-mouth odontoid radiographs demonstrating the same.

View Large | Download Slide(.ppt)
Add to My JBJS

Fig. 3

Twenty-year follow-up MRI. A: Sagittal T2-weighted image showing involvement of the posterior elements of C1-C3 by fibrous dysplasia. B: Sagittal T1-weighted image with gadolinium showing the extension of fibrous dysplasia into the body of C3. C and D: Axial T2-weighted images at the level of C3 and C2, respectively, showing involvement of the vertebral bodies. The areas of fibrous dysplasia are indicated by white arrows. MRI artefact is present posteriorly as a result of the wires used for the spinal fusion.

View Large | Download Slide(.ppt)
Add to My JBJS

Discussion

Introduction | Case Report | Discussion | References

In our literature review, fifty-four cases of monostotic fibrous dysplasia involving the spine were identified^1,5-39. Details regarding the majority of these cases are summarized in Table I. The cases were evenly distributed between males and females and occurred most commonly in the third to fifth decade of life (age range of eleven to sixty-eight years)^23,33. Patients most commonly presented with axial neck or back pain or with an incidental finding, but more severe presentations, including pathologic fracture of C3²⁴ and progressive lower-extremity paresis³¹, have been reported. Of forty-two cases in which a specific location was identified, fifteen (36%) were in the cervical spine^{1,9,10,12,14,16,18-20,22,24,33,34,39}, ten (24%) were in the thoracic spine^{8,15-17,25,26,30-32,37}, thirteen (31%) were in the lumbar spine^{6,7,11,14,16,23,27,29,34-36,38,40}, and four (10%) were in the sacrum^16,28. As a result of the rarity of this disorder, the large majority of studies included the results of a single case with a limited duration of follow-up. Consequently, the natural history and ideal treatment of this disease are poorly understood.

View Larger

TABLE I Details of Reported Cases of Monostotic Fibrous Dysplasia in the Spine*

Report	Sex	Age (yr)	Location	Presentation	Treatment	Outcome/Follow-up
Arantes et al.¹⁹, 2008	F	53	C1 (R lateral mass)	Neck pain	Laminectomy with curettage	Asymptomatic at 4-year follow-up; no evidence of recurrence
Ehara et al.³⁴, 1992	M	19	C1 (lateral mass)	Incidental finding	N/A	N/A
Schoenfeld et al.¹⁶, 2010	M	19	C1 (lateral mass)	Neck pain	Biopsy/observation	Asymptomatic at 2-year follow-up; no change in lesion size
Hu et al.,¹ 1990 (presented in this report)	M	41	C2 (entire vertebra)	Neck pain	C1-C3 posterior fusion	Well at 20-year follow-up with evidence of graft invasion by fibrous dysplasia
Ohki¹⁴, 1990	F	20	C2 (spinous process)	Incidental finding	Curettage and bone graft	Well at 5-year follow-up
Iwasaki et al.²⁰, 2008	M	55	C2 (posterior elements)	Headache	Laminectomy	Unremarkable postoperative course
Stirrat et al.⁹, 1989	M	25	C2 (body, odontoid)	Neck pain	Posterior fusion of occiput to C4	Asymptomatic at 2-year follow-up
Marshman et al.²⁴, 2004	M	35	C3 (body, R lateral mass)	Pathologic fracture	Corpectomy with instrumented fusion	Asymptomatic at 18-month follow-up; no evidence of residual fibrous dysplasia invading the strut graft
Schlumberger¹⁰, 1946	M	20	C4 (body)	Posttraumatic	Biopsy/observation	N/A
Rosendahl-Jensen¹², 1956	F	35	C4 (body, lateral mass, posterior elements)	Posttraumatic	Curettage and bone graft	Well at 1-year follow-up
Proschek et al.²², 2007	M	56	C4 (body, posterior elements)	Neck pain	Biopsy/observation	Minor pain and no increase in lesion size at 6-month follow-up
Villas and Martínez-Peric³³, 1992	M	11	C4 (body, L lateral mass)	Painful torticollis	Complete removal with A/P instrumented fusion	Asymptomatic at 4-year follow-up; no evidence of recurrence
Sambasivan et al.¹⁸, 2008	M	35	C4 (posterior elements)	Neck pain with radiculopathy	Laminectomy	Unremarkable postoperative course
Resnik and Lininger³⁹, 1984	F	27	C6 (body, lateral mass, lamina)	Posttraumatic	Biopsy/observation	N/A
Schoenfeld et al.¹⁶, 2010	M	39	C7 (body, spinous process)	Incidental finding	Biopsy/observation	Asymptomatic at 3-year follow-up; no change in lesion size
Schoenfeld et al.¹⁶, 2010	F	46	T1 (vertebral body)	Incidental finding	Biopsy/observation	Asymptomatic at 10-year follow-up; no change in lesion size
Rosenblum et al.³⁷, 1987	M	20	T1 (body, lamina, R lateral mass)	Posttraumatic	Excision with corpectomy and fusion	Well and fused at 3-month follow-up
Fu et al.²⁵, 2004	F	68	T3 (body, R pedicle, lamina, transverse process)	Progressive back pain with radiculopathy	Wide excision with A/P instrumented fusion	Final pathology demonstrated fibrous dysplasia with osteosarcomatous transformation; patient was well at 18-month follow-up; no evidence of metastasis or recurrence
Penrod et al.⁸, 1996	F	40	T3 (body, R pedicle)	Thoracic back pain	Excision with grafting	Unremarkable postoperative course
Przybylski et al.³¹, 1996	M	12	T5 (entire vertebra)	Progressive myelopathy	Complete excision with A/P instrumented fusion	Asymptomatic at 17-month follow-up; no evidence of lesion recurrence
Arazi et al.²⁶, 2004	F	53	T6 (body, posterior elements)	Thoracic back pain	Complete excision with interbody fusion	Asymptomatic at 2-year follow-up; graft collapse without evidence of recurrence
Hatzitolios et al.¹⁷, 2008	M	29	T7 (L transverse process)	Thoracic back pain	Biopsy/observation	N/A
Nabarro and Giblin³², 1994	F	46	T7 (body, posterior elements)	Back pain with radiculopathy	Partial excision with A/P instrumented fusion	Asymptomatic at 6-month follow-up; no change in size of the residual lesion
Oba et al.³⁰, 1998	F	48	T10 (body, L pedicle, transverse process)	Thoracic back pain	Complete excision and grafting with hydroxyapatite	Asymptomatic at 3-year follow-up; no evidence of recurrence
Singer et al.¹⁵, 1991	F	44	T11 (body)	Thoracic back pain	Excision and fusion	Well at 2-year follow-up
Hertel et al.²⁷, 2003	F	30	L1 (body)	Low back pain	Excision with corpectomy and fusion	Unremarkable postoperative course
Ledoux-Lebard and Soulquin¹¹, 1953	F	58	L1 (body, pedicle)	Myelopathy	Biopsy and decompression	N/A
Asazuma et al.²³, 2005	M	57	L2 (lamina, spinous process)	Low back pain	Laminectomy	Asymptomatic at 2-year follow-up; no evidence of recurrence
Schoenfeld et al.¹⁶, 2010	M	22	L3 (vertebral body, pedicles)	Low back pain	Biopsy/observation	Asymptomatic at 28-year follow-up; no change in lesion size
Ehara et al.³⁴, 1992	M	19	L3 (body)	Low back pain	N/A	N/A
Kahn and Rosenberg³⁶, 1988	M	23	L3 (body, R posterior elements)	Posttraumatic	Complete excision with A/P instrumented fusion	Unremarkable postoperative course
Troop and Herring³⁵, 1988	F	12	L3 (body, R posterior elements)	Posttraumatic	Curettage and bone grafting with posterior spinal fusion	Asymptomatic at 3-year follow-up
Avimadje et al.⁶, 2000	F	61	L3 (body, posterior elements)	Low back pain	Biopsy/observation	N/A
Nigrisoli³⁸, 1987	F	36	L3 (body)	Low back pain	Curettage and bone grafting	Persistent back pain at 14-month follow-up
Chow et al.²⁹, 2000	F	47	L4 (L transverse process)	Low back pain	Excision	Asymptomatic at 8-year follow-up
Harris et al.⁴⁰, 1962	M	42	L4 (transverse process)	Low back pain	Biopsy/observation	Low back pain at 4-year follow-up
Daniluk and Witwicki⁷, 1979	F	28	L4 (R posterior elements)	Low back pain	Excision	Unremarkable postoperative course
Ohki¹⁴, 1990	M	31	L5 (body, L pedicle, lamina)	Low back pain	Excision and fusion	Well at 1-year follow-up
Hidalgo-Ovejero et al.²⁸, 2001	M	42	S1 (bilateral sacral ala)	Posttraumatic	Curettage and bone grafting	Asymptomatic at 2-year follow-up
Schoenfeld et al.¹⁶, 2010	M	22	S1 (L sacral ala)	Chronic low back pain	Biopsy/observation	Asymptomatic at 8-year follow-up; no change in lesion size
Schoenfeld et al.¹⁶, 2010	F	32	S1-2 (L sacrum)	Low back pain and paresthesias of lateral aspect of left foot	Curettage and bone grafting	No pain; persistent left foot paresthesias at 14-year follow-up; no change in lesion size
Schoenfeld et al.¹⁶, 2010	F	51	S1-2 (R sacral ala)	Pain in right sacral region	Curettage and bone grafting	Asymptomatic at 4-year follow-up; no increase in lesion size

* N/A indicates information that is not available in the listed publication. A/P indicates a combined anterior and posterior fusion procedure. Posttraumatic indicates that the lesion was discovered as part of the workup for a traumatic injury without evidence of a fracture through the lesion. The following studies are not listed in the table: Yang et al.²¹ (2007) and Wright and Stoker¹³ (1988), who presented only the imaging characteristics of monostotic fibrous dysplasia in the spine, and Dahlin and Unni⁵ (1986), who did not report the treatment results of individual cases.

Add to My JBJS

TABLE I Details of Reported Cases of Monostotic Fibrous Dysplasia in the Spine*

Report	Sex	Age (yr)	Location	Presentation	Treatment	Outcome/Follow-up
Arantes et al.¹⁹, 2008	F	53	C1 (R lateral mass)	Neck pain	Laminectomy with curettage	Asymptomatic at 4-year follow-up; no evidence of recurrence
Ehara et al.³⁴, 1992	M	19	C1 (lateral mass)	Incidental finding	N/A	N/A
Schoenfeld et al.¹⁶, 2010	M	19	C1 (lateral mass)	Neck pain	Biopsy/observation	Asymptomatic at 2-year follow-up; no change in lesion size
Hu et al.,¹ 1990 (presented in this report)	M	41	C2 (entire vertebra)	Neck pain	C1-C3 posterior fusion	Well at 20-year follow-up with evidence of graft invasion by fibrous dysplasia
Ohki¹⁴, 1990	F	20	C2 (spinous process)	Incidental finding	Curettage and bone graft	Well at 5-year follow-up
Iwasaki et al.²⁰, 2008	M	55	C2 (posterior elements)	Headache	Laminectomy	Unremarkable postoperative course
Stirrat et al.⁹, 1989	M	25	C2 (body, odontoid)	Neck pain	Posterior fusion of occiput to C4	Asymptomatic at 2-year follow-up
Marshman et al.²⁴, 2004	M	35	C3 (body, R lateral mass)	Pathologic fracture	Corpectomy with instrumented fusion	Asymptomatic at 18-month follow-up; no evidence of residual fibrous dysplasia invading the strut graft
Schlumberger¹⁰, 1946	M	20	C4 (body)	Posttraumatic	Biopsy/observation	N/A
Rosendahl-Jensen¹², 1956	F	35	C4 (body, lateral mass, posterior elements)	Posttraumatic	Curettage and bone graft	Well at 1-year follow-up
Proschek et al.²², 2007	M	56	C4 (body, posterior elements)	Neck pain	Biopsy/observation	Minor pain and no increase in lesion size at 6-month follow-up
Villas and Martínez-Peric³³, 1992	M	11	C4 (body, L lateral mass)	Painful torticollis	Complete removal with A/P instrumented fusion	Asymptomatic at 4-year follow-up; no evidence of recurrence
Sambasivan et al.¹⁸, 2008	M	35	C4 (posterior elements)	Neck pain with radiculopathy	Laminectomy	Unremarkable postoperative course
Resnik and Lininger³⁹, 1984	F	27	C6 (body, lateral mass, lamina)	Posttraumatic	Biopsy/observation	N/A
Schoenfeld et al.¹⁶, 2010	M	39	C7 (body, spinous process)	Incidental finding	Biopsy/observation	Asymptomatic at 3-year follow-up; no change in lesion size
Schoenfeld et al.¹⁶, 2010	F	46	T1 (vertebral body)	Incidental finding	Biopsy/observation	Asymptomatic at 10-year follow-up; no change in lesion size
Rosenblum et al.³⁷, 1987	M	20	T1 (body, lamina, R lateral mass)	Posttraumatic	Excision with corpectomy and fusion	Well and fused at 3-month follow-up
Fu et al.²⁵, 2004	F	68	T3 (body, R pedicle, lamina, transverse process)	Progressive back pain with radiculopathy	Wide excision with A/P instrumented fusion	Final pathology demonstrated fibrous dysplasia with osteosarcomatous transformation; patient was well at 18-month follow-up; no evidence of metastasis or recurrence
Penrod et al.⁸, 1996	F	40	T3 (body, R pedicle)	Thoracic back pain	Excision with grafting	Unremarkable postoperative course
Przybylski et al.³¹, 1996	M	12	T5 (entire vertebra)	Progressive myelopathy	Complete excision with A/P instrumented fusion	Asymptomatic at 17-month follow-up; no evidence of lesion recurrence
Arazi et al.²⁶, 2004	F	53	T6 (body, posterior elements)	Thoracic back pain	Complete excision with interbody fusion	Asymptomatic at 2-year follow-up; graft collapse without evidence of recurrence
Hatzitolios et al.¹⁷, 2008	M	29	T7 (L transverse process)	Thoracic back pain	Biopsy/observation	N/A
Nabarro and Giblin³², 1994	F	46	T7 (body, posterior elements)	Back pain with radiculopathy	Partial excision with A/P instrumented fusion	Asymptomatic at 6-month follow-up; no change in size of the residual lesion
Oba et al.³⁰, 1998	F	48	T10 (body, L pedicle, transverse process)	Thoracic back pain	Complete excision and grafting with hydroxyapatite	Asymptomatic at 3-year follow-up; no evidence of recurrence
Singer et al.¹⁵, 1991	F	44	T11 (body)	Thoracic back pain	Excision and fusion	Well at 2-year follow-up
Hertel et al.²⁷, 2003	F	30	L1 (body)	Low back pain	Excision with corpectomy and fusion	Unremarkable postoperative course
Ledoux-Lebard and Soulquin¹¹, 1953	F	58	L1 (body, pedicle)	Myelopathy	Biopsy and decompression	N/A
Asazuma et al.²³, 2005	M	57	L2 (lamina, spinous process)	Low back pain	Laminectomy	Asymptomatic at 2-year follow-up; no evidence of recurrence
Schoenfeld et al.¹⁶, 2010	M	22	L3 (vertebral body, pedicles)	Low back pain	Biopsy/observation	Asymptomatic at 28-year follow-up; no change in lesion size
Ehara et al.³⁴, 1992	M	19	L3 (body)	Low back pain	N/A	N/A
Kahn and Rosenberg³⁶, 1988	M	23	L3 (body, R posterior elements)	Posttraumatic	Complete excision with A/P instrumented fusion	Unremarkable postoperative course
Troop and Herring³⁵, 1988	F	12	L3 (body, R posterior elements)	Posttraumatic	Curettage and bone grafting with posterior spinal fusion	Asymptomatic at 3-year follow-up
Avimadje et al.⁶, 2000	F	61	L3 (body, posterior elements)	Low back pain	Biopsy/observation	N/A
Nigrisoli³⁸, 1987	F	36	L3 (body)	Low back pain	Curettage and bone grafting	Persistent back pain at 14-month follow-up
Chow et al.²⁹, 2000	F	47	L4 (L transverse process)	Low back pain	Excision	Asymptomatic at 8-year follow-up
Harris et al.⁴⁰, 1962	M	42	L4 (transverse process)	Low back pain	Biopsy/observation	Low back pain at 4-year follow-up
Daniluk and Witwicki⁷, 1979	F	28	L4 (R posterior elements)	Low back pain	Excision	Unremarkable postoperative course
Ohki¹⁴, 1990	M	31	L5 (body, L pedicle, lamina)	Low back pain	Excision and fusion	Well at 1-year follow-up
Hidalgo-Ovejero et al.²⁸, 2001	M	42	S1 (bilateral sacral ala)	Posttraumatic	Curettage and bone grafting	Asymptomatic at 2-year follow-up
Schoenfeld et al.¹⁶, 2010	M	22	S1 (L sacral ala)	Chronic low back pain	Biopsy/observation	Asymptomatic at 8-year follow-up; no change in lesion size
Schoenfeld et al.¹⁶, 2010	F	32	S1-2 (L sacrum)	Low back pain and paresthesias of lateral aspect of left foot	Curettage and bone grafting	No pain; persistent left foot paresthesias at 14-year follow-up; no change in lesion size
Schoenfeld et al.¹⁶, 2010	F	51	S1-2 (R sacral ala)	Pain in right sacral region	Curettage and bone grafting	Asymptomatic at 4-year follow-up; no increase in lesion size

A unique element of the present case is the demonstrated progression of monostotic fibrous dysplasia into a previously uninvolved vertebra via a remodeled bone autograft. There are several possible explanations for this phenomenon, each of which may provide new insight into the pathophysiology of monostotic fibrous dysplasia.

The etiology of fibrous dysplasia has been linked to a sporadic activating mutation of Gs alpha on chromosome 20q13.2-13.3 that occurs after fertilization in somatic cells and results in blocked maturation of primitive bone^41,42. This creates a tissue mosaic. Indeed, there is a cellular mosaic of mutated and nonmutated osteoblasts and mesenchymal stem cells in the lesional tissue⁴³. Consequently, the clinical presentation of fibrous dysplasia depends on the stage in embryogenesis at which the mutation occurs. Many unaffected areas of cortical bone and circulating blood cells in patients with the polyostotic fibrous dysplasia of McCune-Albright syndrome share the GNAS mutation⁴⁴. In the setting of monostotic fibrous dysplasia, the mutated cells are thought to be limited to the affected bone. Although additional areas may be affected genetically, they fail to establish clinical disease because of the competitive growth disadvantage compared with the nonmutated cells and increased rates of apoptosis of the mutated cells. This same phenomenon is responsible for dampening the activity in monostotic fibrous dysplasia lesions with age and for reports that the histologic characteristics may even normalize⁴³. Reactivation and growth of the mutated monostotic fibrous dysplasia cells from C2 must have occurred in our patient, even though he was a middle-aged man. This is a new insight into the behavioral potential of monostotic fibrous dysplasia cells.

Remodeling of the bone graft likely provided a conduit for the mutated cells and a mechanism for extension of the disease. Remodeling of cancellous bone graft begins with invasion of the graft marrow space by host fibrovascular reparative tissue, and this is followed by deposition of new bone-encasing graft trabeculae. Remodeling of a cortical graft begins with bridging callus formation from the host periosteum^45-48. However, in monostotic fibrous dysplasia the host cell has a genetic block to maturation, and the graft is converted into more fibrous dysplasia. In this case, the graft appears to have served as a bridge for fibrous dysplasia cells to reach a previously unaffected bone, and the remodeling process created an environment that preferentially favored the mutated cells over the normal stromal cells.

Another possibility is that C3 or the autologous bone graft could have already been involved by fibrous dysplasia, and represent unrecognized polyostotic fibrous dysplasia. However, this is very unlikely. Among a National Institutes of Health (NIH) cohort of patients with fibrous dysplasia followed with sequential bone scans, none developed new disease after the age of twenty-three⁴⁹. Our patient's initial bone scan showed isolated disease of C2.

The treatment of spinal fibrous dysplasia is controversial. Several reports describe aggressive excision of monostotic fibrous dysplasia involving the spine in the absence of compression of the neural elements^{26,30,33,36,37}. This approach may be due to concern about potential regrowth of fibrous dysplasia and the risk of malignant transformation of residual disease. Invasion of graft sites by residual fibrous dysplasia has been demonstrated in the appendicular skeleton at rates as high as thirteen (50%) of twenty-six cases^40,50,51. However, good outcomes have been reported in all cases of monostotic fibrous dysplasia of the spine in the literature regardless of the therapeutic intervention used, even with demonstrated invasion of the graft by fibrous dysplasia. Of forty cases for which the outcome of treatment was reported, eleven (28%) were managed with biopsy and observation^{6,10,16,17,22,39,40}, ten (25%) were managed with curettage and grafting or fusion^{1,9,11,12,14,16,28,35,38}, and nineteen (48%) were managed with complete excision with or without fusion on the basis of the resulting degree of spinal instability^{7,8,14,15,18-20,23-27,29-33,36,37}. All patients had a favorable outcome, and no factors favored a particular approach to treatment.

Despite upregulated growth of the neoplastic cells, our patient did not develop cancer. The general risk of malignant transformation of spinal fibrous dysplasia is unknown. We found one case report of monostotic fibrous dysplasia of the spine changing into osteogenic sarcoma²⁵, but this one case is insufficient to estimate the rate of malignant transformation. Malignant transformation of fibrous dysplasia is rare in the appendicular skeleton, with a reported incidence of 0.4 to 4%^52-54. Our patient will continue to undergo cancer surveillance consistent with our recommendation to perform repeat imaging studies of patients with monostotic fibrous dysplasia every five years because of the risk of malignant transformation.

In summary, monostotic fibrous dysplasia of the spine is a rare disorder. Reported presentations and treatments vary, and outcomes have been uniformly good. Thus, it seems prudent to avoid overly aggressive treatment. This case demonstrates the ability of monostotic fibrous dysplasia to spread to a previously uninvolved vertebra through the remodeling of bone graft used for spinal fusion.

References

Introduction | Case Report | Discussion | References

Hu SS; Healey JH; Huvos AG. Fibrous dysplasia of the second cervical vertebra. A case report. J Bone Joint Surg Am. 1990;72:781-3. [PubMed]

Lichtenstein L. Polyostotic fibrous dysplasia. Arch Surg. 1938;36:874-98. [CrossRef]

Lichtenstein L; Jaffe H. Fibrous dysplasia of bone. A condition affecting one, several or many bones, the graver cases of which may present abnormal pigmentation of skin, premature sexual development, hyperthyroidism or still other extraskeletal abnormalities. Arch Pathol. 1942;33:777-816.

Bianco P; Robey PG; Wientroub S. Fibrous dysplasia. In: Glorieux FH; Pettifor JM; Jüppner H, editors. Pediatric bone: biology and diseases. San Diego, CA: Elsevier Science; 2003. p509-39.

Dahlin DC; Unni KK. Bone tumors: general aspects and data on 8,542 cases. 4th ed. Springfield, IL: Charles C. Thomas; 1986.

Avimadje AM; Goupille P; Zerkak D; Begnard G; Brunais-Besse J; Valat JP. Monostotic fibrous dysplasia of the lumbar spine. Joint Bone Spine. 2000;67:65-70. [PubMed]

Daniluk A; Witwicki T. [Case of fibrous dysplasia of the spine]. Chir Narzadow Ruchu Ortop Pol. 1979;44:165-7. Polish. [PubMed]

Penrod BJ; Haramati N; Frager D; Dorfman HD. A 40-year-old woman with back pain. Clin Imaging. 1996;20:143-6. [PubMed][CrossRef]

Stirrat AN; Fyfe IS; Fisher CJ. Fibrous dysplasia of the axis: A case report. Spine (Phila Pa 1976). 1989;14:243-5. [PubMed][CrossRef]

Schlumberger HG. Fibrous dysplasia of single bones (monostotic fibrous dysplasia). Mil Surg. 1946;99:504-27. [PubMed]

Ledoux-Lebard G, Soulquin C [Vertebral localization of osteofibroma of bone or Jaffe-Lichtenstein's disease; report of two cases.]Presse Med. 1953;61:272-3. [PubMed]

Rosendahl-Jensen S. Fibrous dysplasia of the vertebral column. Acta Chir Scand. 1956;111:490-4. [PubMed]

Wright JF; Stoker DJ. Fibrous dysplasia of the spine. Clin Radiol. 1988;39:523-7. [PubMed][CrossRef]

Ohki I. Monostotic fibrous dysplasia in the spine. J West Pacif Orthop Assoc. 1990;27:107-10.

Singer J; Sundaram M; Merenda G; Joyce PF. Fibrous dysplasia of thoracic vertebra arising de novo: cheirurgogenenic in origin?Orthopedics. 1991;14:355-8. [PubMed]

Schoenfeld AJ; Koplin SA; Garcia R; Hornicek FJ; Mankin HJ; Raskin KA; Springfield D; Rosenberg AE; Schwab JH. Monostotic fibrous dysplasia of the spine: a report of seven cases. J Bone Joint Surg Am. 2010;92:984-8. [PubMed][CrossRef]

Hatzitolios A; Savopoulos Ch; Karagianopoulou G; Psomas E; Sideri Ch; Lefkopoulos A; Assantis V; Bischiniotis I. Pain and osteolysis of the thoracic spine—a case of a rare monostotic fibrous dysplasia manifestation. Hippokratia. 2008;12:254-6. [PubMed]

Sambasivan M; Sanalkumar P; Mahesh S; Nair KR; Basheer A. Monostotic fibrous dysplasia of the C4 cervical spine. Neurol India. 2008;56:497-8. [PubMed][CrossRef]

Arantes M; Vaz AR; Honavar M; Resende M; Pereira JR. Fibrous dysplasia of the first cervical vertebra. Spine (Phila Pa 1976). 2008;33:E933-5. [PubMed][CrossRef]

Iwasaki M; Hida K; Yano S; Iwasaki Y. [Case of cervical monostotic fibrous dysplasia with a large cyst]. No Shinkei Geka. 2008;36:429-33. Japanese. [PubMed]

Yang C; Zhu B; Chen A. Imaging diagnosis of monostotic fibrous dysplasia in thoracic and lumbar spine vertebrae. J Huazhong Univ Sci Technolog Med Sci. 2007;27:684-6. [PubMed][CrossRef]

Proschek D; Orler R; Stauffer E; Heini P. Monostotic fibrous dysplasia of the spine: report of a case involving a cervical vertebra. Arch Orthop Trauma Surg. 2007;127:75-9. [PubMed][CrossRef]

Asazuma T; Sato M; Masuoka K; Yasuoka H; Tsuji T; Aida S. Monostotic fibrous dysplasia of the lumbar spine: case report and review of the literature. J Spinal Disord Tech. 2005;18:535-8. [PubMed][CrossRef]

Marshman LA; David KM; O'Donovan DG; Chawda SJ. Fibrous dysplasia of the cervical spine presenting as a pathological fracture. Br J Neurosurg. 2004;18:527-33. [PubMed][CrossRef]

Fu CJ; Hsu CY; Shih TT; Wu MZ. Monostotic fibrous dysplasia of the thoracic spine with malignant transformation. J Formos Med Assoc. 2004;103:711-4. [PubMed]

Arazi M; Guney O; Ozdemir M; Uluoglu O; Uzum N. Monostotic fibrous dysplasia of the thoracic spine: clinopathological description and follow up. Case report. J Neurosurg. 2004;100( 4 Suppl Spine):378-81. [PubMed]

Hertel F; Hopf T; Feiden W; Bettag M; Walter C; Delling G. Monostotic lumbar manifestation of fibrous dysplasia—a rare entity. Acta Neurochir (Wien). 2003;145:1021-2. [PubMed][CrossRef]

Hidalgo-Ovejero AM; García-Mata S; Sánchez-Villares JJ; Martínez-Grande M. Fibrous dysplasia of both alae of the sacrum. Am J Orthop (Belle Mead NJ). 2001;30:135-7. [PubMed]

Chow LT; Griffith J; Chow WH; Kumta SM. Monostotic fibrous dysplasia of the spine: report of a case involving the lumbar transverse process and review of the literature. Arch Orthop Trauma Surg. 2000;120:460-4. [PubMed][CrossRef]

Oba M; Nakagami W; Maeda M; Kobayashi K. Symptomatic monostotic fibrous dysplasia of the thoracic spine. Spine (Phila Pa 1976). 1998;23:741-3. [PubMed][CrossRef]

Przybylski GJ; Pollack IF; Ward WT. Monostotic fibrous dysplasia of the thoracic spine. A case report. Spine (Phila Pa 1976). 1996;21:860-5. [PubMed][CrossRef]

Nabarro MN; Giblin PE. Monostotic fibrous dysplasia of the thoracic spine. Spine (Phila Pa 1976). 1994;19:463-5. [PubMed][CrossRef]

Villas C; Martínez-Peric R. Monostotic fibrous dysplasia of a cervical vertebra. Eur Spine J. 1992;1:137-9. [PubMed][CrossRef]

Ehara S; Kattapuram SV; Rosenberg AE. Fibrous dysplasia of the spine. Spine (Phila Pa 1976). 1992;17:977-9. [PubMed][CrossRef]

Troop JK; Herring JA. Monostotic fibrous dysplasia of the lumbar spine: case report and review of the literature. J Pediatr Orthop. 1988;8:599-601. [PubMed][CrossRef]

Kahn A 3rd; Rosenberg PS. Monostotic fibrous dysplasia of the lumbar spine. Spine (Phila Pa 1976). 1988;13:592-3. [PubMed][CrossRef]

Rosenblum B; Overby C; Levine M; Handler M; Sprecher S. Monostotic fibrous dysplasia of the thoracic spine. Spine (Phila Pa 1976). 1987;12:939-42. [PubMed][CrossRef]

Nigrisoli M. Monostotic fibrous dysplasia of the spine: case report. Ital J Orthop Traumatol. 1987;13:273-8. [PubMed]

Resnik CS; Lininger JR. Monostotic fibrous dysplasia of the cervical spine: case report. Radiology. 1984;151:49-50. [PubMed]

Harris WH; Dudley HR Jr.; Barry RJ. The natural history of fibrous dysplasia. An orthopaedic, pathological, and roentgenographic study. J Bone Joint Surg Am. 1962;44:207-33. [PubMed]

Weinstein LS; Shenker A; Gejman PV; Merino MJ; Friedman E; Spiegel AM. Activating mutations of the stimulatory G protein in the McCune-Albright syndrome. N Engl J Med. 1991;325:1688-95. [PubMed][CrossRef]

Weinstein LS; Chen M; Liu J. Gs(alpha) mutations and imprinting defects in human disease. Ann N Y Acad Sci. 2002;968:173-97. [PubMed][CrossRef]

Kuznetsov SA; Cherman N; Riminucci M; Collins MT; Robey PG; Bianco P. Age-dependent demise of GNAS-mutated skeletal stem cells and "normalization" of fibrous dysplasia of bone. J Bone Miner Res. 2008;23:1731-40. [PubMed][CrossRef]

Shenker A; Weinstein LS; Sweet DE; Spiegel AM. An activating Gs alpha mutation is present in fibrous dysplasia of bone in the McCune-Albright syndrome. J Clin Endocrinol Metab. 1994;79:750-5. [PubMed][CrossRef]

Enneking WF; Morris JL. Human autologous cortical bone transplants. Clin Orthop Relat Res. 1972;87:28-35. [PubMed][CrossRef]

Enneking WF; Campanacci DA. Retrieved human allografts: a clinicopathological study. J Bone Joint Surg Am. 2001;83:971-86. [PubMed]

Enneking WF; Eady JL; Burchardt H. Autogenous cortical bone grafts in the reconstruction of segmental skeletal defects. J Bone Joint Surg Am. 1980;62:1039-58. [PubMed]

Burchardt H; Busbee GA 3rd; Enneking WF. Repair of experimental autologous grafts of cortical bone. J Bone Joint Surg Am. 1975;57:814-9. [PubMed]

Hart ES; Kelly MH; Brillante B; Chen CC; Ziran N; Lee JS; Feuillan P; Leet AI; Kushner H; Robey PG; Collins MT. Onset, progression, and plateau of skeletal lesions in fibrous dysplasia and the relationship to functional outcome. J Bone Miner Res. 2007;22:1468-74. [PubMed][CrossRef]

Henry A. Monostotic fibrous dysplasia. J Bone Joint Surg Br. 1969;51:300-6. [PubMed]

Smith MD; Bohlman HH; Gideonse N. Fibrous dysplasia of the cervical spine: a fatal complication of treatment. A case report. J Bone Joint Surg Am. 1990;72:1254-8. [PubMed]

Ruggieri P; Sim FH; Bond JR; Unni KK. Malignancies in fibrous dysplasia. Cancer. 1994;73:1411-24. [PubMed][CrossRef]

Huvos AG; Higinbotham NL; Miller TR. Bone sarcomas arising in fibrous dysplasia. J Bone Joint Surg Am. 1972;54:1047-56. [PubMed]

DiCaprio MR; Enneking WF. Fibrous dysplasia. Pathophysiology, evaluation, and treatment. J Bone Joint Surg Am. 2005;87:1848-64. [PubMed][CrossRef]

Topics

cervical vertebra ; fibrous dysplasia, monostotic ; axis vertebra ; cervical spine

First Page Preview

View Large

Username

Password

Access for Patients

Forgot Password?

Have a subscription to the print edition?

Not a Subscriber?

Buy this Article

Get online access for 30 days for $35

New to JBJS?

Subscribe to the online edition for 30 days for $75

Register for a FREE limited account to get full access to all CME activities, to comment on public articles, or to sign up for alerts.

Have a subscription to the print edition?

Current subscribers to The Journal of Bone & Joint Surgery in either the print or quarterly DVD formats receive free online access to JBJS.org.

Activate your online account now

Forgot your password?

Enter your username and email address. We'll send you a reminder to the email address on record.

Username:*

Email Address:*

Forgot your username or need assistance? Please contact customer service at subs@jbjs.org. If your access is provided
by your institution, please contact you librarian or administrator for username and password information. Institutional
administrators, to reset your institution's master username or password, please contact subs@jbjs.org

References

Accreditation Statement

These activities have been planned and implemented in accordance with the Essential Areas and policies of the Accreditation Council for Continuing Medical Education (ACCME) through the joint sponsorship of the American Academy of Orthopaedic Surgeons and The Journal of Bone and Joint Surgery, Inc. The American Academy of Orthopaedic Surgeons is accredited by the ACCME to provide continuing medical education for physicians.

CME Activities Associated with This Article

Submit a Comment

Please read the other comments before you post yours. Contributors must reveal any conflict of interest.
Comments are moderated and will appear on the site at the discretion of JBJS editorial staff.

* = Required Field

Comment Author(s) * (if multiple authors, separate names by comma)

Example: John Doe

Affiliation & Institution*

Disclosure

Comment Title*

Comment*

Cancel

Print
PDF
Email

Recipient(s) will receive an email with a link (good for 5 days) to 'Twenty-Year Follow-up of Monostotic Fibrous Dysplasia of the Second Cervical Vertebra: A Case Report and Review of the Literature'.
Your Name:*
Example: John Doe

Email Address:* CC Me:
Enter your valid email address. Example: jdoe@example.com

Recipient's Email Address:*

Separate multiple email address with semi-colons (up to 5).

Subject:* 's The Journal of Bone & Joint Surgery: 'Twenty-Year Follow-up of Monostotic Fibrous Dysplasia of the Second Cervical Vertebra: A Case Report and Review of the Literature'
Subject for your email.

Message:

(Optional, message will truncate at 1000 characters)

Processing your request... Please Wait...

Copyright © in the material you requested is held by The Journal of Bone & Joint Surgery, Inc. (unless otherwise noted). This email ability is provided as a courtesy, and by using it you agree that that you are requesting the material solely for personal, non-commercial use, and that it is subject to Journal of Bone & Joint Surgery, Inc.'s Terms of Use. The information provided in order to email this topic will not be used to send unsolicited email, nor will it be furnished to third parties. Please refer to The Journal of Bone & Joint Surgery Inc.'s Privacy Policy for further information.

Copyright © The Journal of Bone & Joint Surgery Inc. All rights reserved.
Share
Get Citation

Dennis S. Meredith, John H. Healey; Twenty-Year Follow-up of Monostotic Fibrous Dysplasia of the Second Cervical VertebraA Case Report and Review of the Literature. The Journal of Bone & Joint Surgery. 2011 Jul;93(13):e74 1-7.

Download citation file:

RIS (Zotero)

EndNote

BibTex

Medlars

ProCite

RefWorks

Reference Manager

Copyright © The Journal of Bone and Joint Surgery, Inc.
Rights & Permissions
Article Alerts

Processing your request... Please Wait.
Submit a Comment