Extent of Extraskeletal Manifestations of Fibrous Dysplasia/McCune-Albright Syndrome in Patients with Mazabraud's Syndrome.
Fibrous dysplasia
GNAS
Intramuscular myxoma
Mazabraud’s syndrome
McCune-Albright syndrome
Journal
Calcified tissue international
ISSN: 1432-0827
Titre abrégé: Calcif Tissue Int
Pays: United States
ID NLM: 7905481
Informations de publication
Date de publication:
03 2022
03 2022
Historique:
received:
03
07
2021
accepted:
20
09
2021
pubmed:
3
12
2021
medline:
26
4
2022
entrez:
2
12
2021
Statut:
ppublish
Résumé
Mazabraud's syndrome (MZB) is a rare condition in which fibrous dysplasia of bone/the McCune-Albright syndrome (FD/MAS) co-exists with intramuscular myxomas. Both FD and the myxomas harbor the GNAS-mutation. Recent studies have shown that extraskeletal, GNAS-related features are associated with a more severe phenotype of FD/MAS. However, patients with MZB are often only seen by orthopedic surgeons. We therefore evaluated MZB patients seen in tertiary referral centers from the Netherlands (LUMC), USA (National Institutes of Health) and France (INSERM UMR 1033 (Lyos), Hôpital Edouard Herriot). All FD/MAS patients known in these centers with an additional diagnosis of a myxoma were included. Demographic information and data on disease extent and extraskeletal manifestations of FD/MAS such as precocious puberty (PP) or café-au-lait patches (CAL) were retrieved from patient's medical records. Thirty MZB patients were included: 20 women (67%) and 10 men (33%). Patients received a diagnosis of MZB (median 42 years, range 16-19) significantly later than the diagnosis of FD/MAS (median 30 years, range 0-60), p < 0.01. Twenty-six patients were diagnosed with polyostotic disease (87%). In 97% the myxoma was located near the skeletal FD lesion. The combination of MZB and MAS was made in 13 patients in whom PP (n = 7), CAL (n = 7), GH-excess (n = 3) and hyperthyroidism (n = 3) were present. Other extraskeletal features were (multinodular) goiter (n = 2) and thyroid cysts (n = 1). Furthermore, in this cohort of patients with MZB several (pre-)malignant tumors were observed; ductal carcinoma in situ of the breast in 3 patients (10%), breast cancer in 1 patient (3.3%), intra pancreatic mucinous neoplasms in 3 patients (10%) and liver adenomas in 2 patients (6.6%). A total of 47% of patients with MZB had an additional extraskeletal feature such as an endocrinopathy. In MZB, 87% of patients suffer from polyostotic FD, 43% of patients have extraskeletal GNAS-features such as an hyperfunctioning endocrinopathy and 30% (pre-)malignant tumors. We therefore advocate that MZB patients should undergo a complete screening and long-term follow-up for extent of bone disease, but also extraskeletal GNAS features of FD/MAS.
Identifiants
pubmed: 34854944
doi: 10.1007/s00223-021-00918-0
pii: 10.1007/s00223-021-00918-0
doi:
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
334-340Informations de copyright
© 2021. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.
Références
Mazabraud A, Semat P, Roze R (1967) Apropos of the association of fibromyxomas of the soft tissues with fibrous dysplasia of the bones. Presse Med 75(44):2223–2228
pubmed: 6054147
Cox JL, Cushman-Vokoun AM, McGarry SV, Kozel JA (2017) Two cases of Mazabraud syndrome and identification of a GNAS R201H mutation by next-generation sequencing. Virchows Arch 470(5):589–593
doi: 10.1007/s00428-017-2100-8
Boyce AM, Florenzano P, de Castro LF, Collins MT. Fibrous Dysplasia/McCune-Albright Syndrome. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, et al., editors. GeneReviews((R)). Seattle (WA)2018.
Delaney D, Diss TC, Presneau N, Hing S, Berisha F, Idowu BD et al (2009) GNAS1 mutations occur more commonly than previously thought in intramuscular myxoma. Mod Pathol 22(5):718–724
doi: 10.1038/modpathol.2009.32
Majoor BCJ, van de Sande MAJ, Appelman-Dijkstra NM, Leithner A, Jutte PC, Velez R et al (2019) Prevalence and clinical features of mazabraud syndrome: a multicenter European study. J Bone Joint Surg Am 101(2):160–168
doi: 10.2106/JBJS.18.00062
Molin MD, Matthaei H, Wu J, Blackford A, Debeljak M, Rezaee N et al (2013) Clinicopathological correlates of activating GNAS mutations in intraductal papillary mucinous neoplasm (IPMN) of the pancreas. Ann Surg Oncol 20(12):3802–3808
doi: 10.1245/s10434-013-3096-1
Wood LD, Noe M, Hackeng W, Brosens LA, Bhaijee F, Debeljak M et al (2017) Patients with McCune-Albright syndrome have a broad spectrum of abnormalities in the gastrointestinal tract and pancreas. Virchows Arch 470(4):391–400
doi: 10.1007/s00428-017-2086-2
Silver WP, Harrelson JM, Scully SP (2002) Intramuscular myxoma: a clinicopathologic study of 17 patients. Clin Orthop Relat Res 403:191–197
doi: 10.1097/00003086-200210000-00028
Majoor BC, Boyce AM, Bovee JV, Smit VT, Collins MT, Cleton-Jansen AM et al (2018) Increased risk of breast cancer at a young age in women with fibrous dysplasia. J Bone Miner Res 33(1):84–90
doi: 10.1002/jbmr.3286
Majoor BCJ, Andela CD, Quispel CR, Rotman M, Dijkstra PDS, Hamdy NAT et al (2018) Illness perceptions are associated with quality of life in patients with fibrous dysplasia. Calcif Tissue Int 102(1):23–31
doi: 10.1007/s00223-017-0329-5
Robinson C, Collins MT, Boyce AM (2016) Fibrous dysplasia/mccune-albright syndrome: clinical and translational perspectives. Curr Osteoporos Rep 14(5):178–186
doi: 10.1007/s11914-016-0317-0
Thorvaldsdottir H, Robinson JT, Mesirov JP (2013) Integrative Genomics Viewer (IGV): high-performance genomics data visualization and exploration. Brief Bioinform 14(2):178–192
doi: 10.1093/bib/bbs017
Munksgaard PS, Salkus G, Iyer VV, Fisker RV (2013) Mazabraud’s syndrome: case report and literature review. Acta Radiol Short Rep 2(4):2047981613492532
pubmed: 24198959
pmcid: 3805425
Zoccali C, Teori G, Prencipe U, Erba F (2009) Mazabraud’s syndrome: a new case and review of the literature. Int Orthop 33(3):605–610
doi: 10.1007/s00264-007-0483-x
Fu S, Tian Z, Zhang C, He Y (2015) Monosotic fibrous dysplasia and solitary intramuscular myxoma of the head and neck: A unique presentation of Mazabraud’s syndrome and a literature review. Oncol Lett 10(5):3087–3094
doi: 10.3892/ol.2015.3633
Endo M, Kawai A, Kobayashi E, Morimoto Y, Yamaguchi U, Nakatani F et al (2007) Solitary intramuscular myxoma with monostotic fibrous dysplasia as a rare variant of Mazabraud’s syndrome. Skeletal Radiol 36(6):523–529
doi: 10.1007/s00256-006-0234-x
Domancic S, Pezoa N, Fernandez-Toro M, Ortega-Pinto A, Donoso-Hofer F (2018) Maxillofacial Mazabraud’s syndrome: A case report & review. J Stomatol Oral Maxillofac Surg 119(1):44–48
doi: 10.1016/j.jormas.2017.10.002
Arishima Y, Setoguchi T, Abematsu M, Tominaga H, Fukunaga E, Komiya S (2010) Mazabraud’s syndrome with solitary myxoma and monostotic fibrous dysplasia. J Orthop Sci 15(1):144–147
doi: 10.1007/s00776-009-1408-x
Wan J, He HB, Liao QD, Zhang C (2014) An atypical monomelic presentation of Mazabraud syndrome. Indian J Orthop 48(4):429–431
doi: 10.4103/0019-5413.136312
Collins MTSF, Eugster E (2012) McCune-Albright syndrome and the extraskeletal manifestations of fibrous dysplasia. Orphanet J Rare Dis 24(7):S4
doi: 10.1186/1750-1172-7-S1-S4
Gu W, Ogose A, Matsuba A, Kawashima H, Hotta T, Kudo N et al (2006) Activating Gs a mutation rarely occurs in musculoskeletal tumors other than fibrous dysplasia. Anticancer Res 26(2b):1611–1614
pubmed: 16619580
Okamoto S, Hisaoka M, Ushijima M, Nakahara S, Toyoshima S, Hashimoto H (2000) Activating Gs(alpha) mutation in intramuscular myxomas with and without fibrous dysplasia of bone. Virchows Arch 437(2):133–137
doi: 10.1007/s004280000217
Walther I, Walther BM, Chen Y, Petersen I (2014) Analysis of GNAS1 mutations in myxoid soft tissue and bone tumors. Pathol Res Pract 210(1):1–4
doi: 10.1016/j.prp.2013.09.003
Calleja M, Amary F, O’Donnell P (2018) Mutational analysis of high-grade spindle cell sarcoma of the femur in Mazabraud’s syndrome. Skeletal Radiol 48:151–157
doi: 10.1007/s00256-018-2975-8
Sunitsch S, Gilg MM, Kashofer K, Gollowitsch F, Leithner A, Liegl-Atzwanger B (2018) Detection of GNAS mutations in intramuscular / cellular myxomas as diagnostic tool in the classification of myxoid soft tissue tumors. Diagn Pathol 13(1):52
doi: 10.1186/s13000-018-0734-8
Murphey MD, McRae GA, Fanburg-Smith JC, Temple HT, Levine AM, Aboulafia AJ (2002) Imaging of soft-tissue myxoma with emphasis on CT and MR and comparison of radiologic and pathologic findings. Radiology 225(1):215–224
doi: 10.1148/radiol.2251011627
Petscavage-Thomas JM, Walker EA, Logie CI, Clarke LE, Duryea DM, Murphey MD (2014) Soft-tissue myxomatous lesions: review of salient imaging features with pathologic comparison. Radiographics 34(4):964–980
doi: 10.1148/rg.344130110
Mahajan S, Goel R, Riedl C, Ulaner GA (2018) Mazabraud’s syndrome mimicking metastases on FDG PET/CT in a patient with colon cancer. Clin Nucl Med 43(8):625–626
doi: 10.1097/RLU.0000000000002151
Baltu Y, Arikan SM, Dolen UC, Uzun H, Alkan BI, Aydin O (2017) Intramuscular myxoma: clinical and surgical observation notes on eleven cases. Int Orthop 41(4):837–843
doi: 10.1007/s00264-016-3396-8
Javaid MK, Boyce A, Appelman-Dijkstra N, Ong J, Defabianis P, Offiah A et al (2019) Best practice management guidelines for fibrous dysplasia/McCune-Albright syndrome: a consensus statement from the FD/MAS international consortium. Orphanet J Rare Dis 14(1):139
doi: 10.1186/s13023-019-1102-9