Mazabraud’s Syndrome: Literature Review and Report of A Case Series.
Main Article Content
Abstract
Mazabraud’s syndrome is a condition that combines fibrous dysplasia with of single or multiple intramuscular myxomas, which etiology remains relatively unknown.
We present three cases of this uncommon disease. All patients received marginal resection of their symptomatic myxomas, with histopathological confirmation of the lesions after surgery and follow-ups of more than one year.
Mazabraud’s syndrome corresponds to a very rare disease. The management of these patients should be focused on the treatment of symptoms and avoidance of complications. Fracture risk is to be studied and treated if necessary.
Conclusions:
This disease is probably underestimated. It’s important to report cases in order to advance in the knowledge of this syndrome.
Keywords:
Mazabraud, Oncology, Fibrous Dysplasia, Myxomas, Intramuscular Tumor
Article Details
How to Cite
FRANCESCA, Teodonno et al.
Mazabraud’s Syndrome: Literature Review and Report of A Case Series..
Medical Research Archives, [S.l.], v. 10, n. 2, feb. 2022.
ISSN 2375-1924.
Available at: <https://esmed.org/MRA/mra/article/view/2602>. Date accessed: 04 dec. 2024.
doi: https://doi.org/10.18103/mra.v10i2.2602.
Section
Case Reports
The Medical Research Archives grants authors the right to publish and reproduce the unrevised contribution in whole or in part at any time and in any form for any scholarly non-commercial purpose with the condition that all publications of the contribution include a full citation to the journal as published by the Medical Research Archives.
References
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2. Mazabraud A, Semat P, Roze R. Apropos of the association of fibromyxomas of the soft tissues with fibrous dysplasia of the bones. Presse Med 1967; 75:2223–8.
3. Kransdorf Mark J. and Mark D. Murphey. “Case 12: Mazabraud Syndrome.” Radiology 212, no. 1 (July 1, 1999): 129-132.
4. Majoor BCJ, van de Sande MAJ, Appelman-Dijkstra NM, Leithner A, Jutte PC, Vélez R, Perlaky T, Staals EL, Bovée JVMG, Hamdy NAT, Dijkstra SPD. Prevalence and Clinical Features of Mazabraud Syndrome: A Multicenter European Study. (2019) The Journal of bone and joint surgery. American volume. 101 (2): 160-168.
5. Gaumétou E, Tomeno B, Anract P. Mazabraud's syndrome. A case with multiple myxomas. (2012) Orthopaedics & traumatology, surgery & research: OTSR. 98 (4): 455-60.
6. McLaughlin A, Stalley P, Magee M. et al. “Correlative Imaging in an Atypical Case of Mazabraud Syndrome.” Am. J. Roentgenol. 189, no. 6 (December 1, 2007): W353-356.
7. Liegel-Atzwnager B, Hogendoorn PCW, Nielsen GP. Intramuscular myxoma in WHO Classification of Tumours 5th Edition. Soft Tissue and Bone Tumours. Editorial Board. International Agency for Research on Cancer. Lyon, 2020 pp 261- 263.
8. Siegal GP, Bloem JL, Cates JMM, Hameed M. Fibrous dysplasia in WHO Classification of Tumours 5th Edition. Soft Tissue and Bone Tumours. Editorial Board. International Agency for Research on Cancer. Lyon, 2020 pp 472- 474.
9. Sunitsch S, Gilg MM, Kashofer K, Gollowitsch F, Leithner A, Liegl-Atzwanger B. Detection of GNAS mutations in intramuscular / cellular myxomas as diagnostic tool in the classification of myxoid soft tissue tumors. Diagn Pathol. 2018 Aug 15; 13(1):52.
10. Cox JL, Cushman-Vokoun AM, McGarry SV, Kozel JA. Two cases of Mazabraud syndrome and identification of a GNAS R201H mutation bynext-generation sequencing. Virchows Arch. 2017 Mar 3.
11. Ding C, Deng Z, Levine MA. A highly sensitive PCR method detects activating mutations of the GNAS1 gene in peripheral blood cells of patients with McCune-Albright syndrome or isolated fibrous dysplasia. J Bone Miner Res 2001;16:S41.
12. Bekers EM, Eijkelenboom A, Rombout P, van Zwam P, Mol S, Ruijter E, Scheijen B, Flucke U. Identification of novel GNAS mutations in intramuscular myxoma using next-generation sequencing with single-molecule tagged molecular inversion probes. Diagn Pathol. 2019 Feb 8;14(1):15.
13. Kabukcuoglu F, Kabukcuoglu Y, Yilmaz B, Erdem Y, Evren I. Mazabraud’s syndrome: Intramuscular myxoma associated with fibrous dysplasia. Pathol Oncol Res 2004;10:121-3.
14. DiCaprio MR, Enneking WF. Fibrous dysplasia. Pathophysiology, evaluation, and treatment. J Bone Joint Surg Am. 2005;87 (8): 1848-64.
15. Munksgaard, Svenssen P. et al. “Mazabraud’s Syndrome: Case Report and Literature Review.” Acta Radiologica Short Reports 2.4 (2013): 2047981613492532. PMC. Web. 21 Feb. 2016.
16. Lopez-Ben R, Pitt MJ, Jaffe KA, et al. Osteosarcoma in a patient with McCune-Allbright syndrome and Mazabraud’s syndrome. Skeletal Radiol 1999;28:522–6.
17. Witkin GB, Guilford WB, Siegal GP. Osteogenic sarcoma and soft tissue myxoma in a patient with fibrous dysplasia and hemoglobins J Baltimore and S. Clin Orthop Relat Res 1986;204:245–52.
18. Jhala DN, Eltoum I, Carroll AJ, et al. Osteosarcoma in a patient with McCune-Allbright syndrome and Mazabraud’s syndrome: A case report emphasizing the cytological and cytogenetic findings. Hum Pathol 2003; 34:1354–7.
19. Crawford EA, Brooks JS, Ogilvie CM. Osteosarcoma of the proximal part of the radius in Mazabraud syndrome. A case report. J Bone Joint Surg Am 2009; 91:955–60.
20. Biazzo A, Di Bernardo A, Parafioriti A, Confalonieri N. Mazabraud syndrome associated with McCune-Allbright syndrome: a case report and review of the literature. (2017) Acta Bio-medica : Atenei Parmensis. 88 (2): 198-200.
21. Szendroi M, Rahoty P, Antal I, Kiss J. Fibrous dysplasia associated with intramuscular myxoma (Mazabraud’s syndrome): a long-term follow-up of three cases. J Cancer Res Clin Oncol 1998; 124:401-6.
22. Van der Wal WA, Unal H, de Rooy JW, et al. Fibrous dysplasia of bone associated with soft-tissue myxomas as well as an intra-osseous myxoma in a woman with Mazabraud’s syndrome: A case report. J Med Case Reports 2011; 5:239.
23. Lane JM, Khan SN, O’Connor WJ, et al. Bisphosphonate therapy in fibrous dysplasia. Clin Orthop Relat Res 2001;382:6–12
24. Vescini F, Falchetti A, Tonelli V, Carpentieri M, Cipri C, Cosso R, Kara E, Triggiani V, Grimaldi F. Mazabraud's Syndrome: A Case Report And Up-To-Date. Literature Review.Endocrine, metabolic & immune disorders drug targets. 2019. Volume 19, Issue 6
2. Mazabraud A, Semat P, Roze R. Apropos of the association of fibromyxomas of the soft tissues with fibrous dysplasia of the bones. Presse Med 1967; 75:2223–8.
3. Kransdorf Mark J. and Mark D. Murphey. “Case 12: Mazabraud Syndrome.” Radiology 212, no. 1 (July 1, 1999): 129-132.
4. Majoor BCJ, van de Sande MAJ, Appelman-Dijkstra NM, Leithner A, Jutte PC, Vélez R, Perlaky T, Staals EL, Bovée JVMG, Hamdy NAT, Dijkstra SPD. Prevalence and Clinical Features of Mazabraud Syndrome: A Multicenter European Study. (2019) The Journal of bone and joint surgery. American volume. 101 (2): 160-168.
5. Gaumétou E, Tomeno B, Anract P. Mazabraud's syndrome. A case with multiple myxomas. (2012) Orthopaedics & traumatology, surgery & research: OTSR. 98 (4): 455-60.
6. McLaughlin A, Stalley P, Magee M. et al. “Correlative Imaging in an Atypical Case of Mazabraud Syndrome.” Am. J. Roentgenol. 189, no. 6 (December 1, 2007): W353-356.
7. Liegel-Atzwnager B, Hogendoorn PCW, Nielsen GP. Intramuscular myxoma in WHO Classification of Tumours 5th Edition. Soft Tissue and Bone Tumours. Editorial Board. International Agency for Research on Cancer. Lyon, 2020 pp 261- 263.
8. Siegal GP, Bloem JL, Cates JMM, Hameed M. Fibrous dysplasia in WHO Classification of Tumours 5th Edition. Soft Tissue and Bone Tumours. Editorial Board. International Agency for Research on Cancer. Lyon, 2020 pp 472- 474.
9. Sunitsch S, Gilg MM, Kashofer K, Gollowitsch F, Leithner A, Liegl-Atzwanger B. Detection of GNAS mutations in intramuscular / cellular myxomas as diagnostic tool in the classification of myxoid soft tissue tumors. Diagn Pathol. 2018 Aug 15; 13(1):52.
10. Cox JL, Cushman-Vokoun AM, McGarry SV, Kozel JA. Two cases of Mazabraud syndrome and identification of a GNAS R201H mutation bynext-generation sequencing. Virchows Arch. 2017 Mar 3.
11. Ding C, Deng Z, Levine MA. A highly sensitive PCR method detects activating mutations of the GNAS1 gene in peripheral blood cells of patients with McCune-Albright syndrome or isolated fibrous dysplasia. J Bone Miner Res 2001;16:S41.
12. Bekers EM, Eijkelenboom A, Rombout P, van Zwam P, Mol S, Ruijter E, Scheijen B, Flucke U. Identification of novel GNAS mutations in intramuscular myxoma using next-generation sequencing with single-molecule tagged molecular inversion probes. Diagn Pathol. 2019 Feb 8;14(1):15.
13. Kabukcuoglu F, Kabukcuoglu Y, Yilmaz B, Erdem Y, Evren I. Mazabraud’s syndrome: Intramuscular myxoma associated with fibrous dysplasia. Pathol Oncol Res 2004;10:121-3.
14. DiCaprio MR, Enneking WF. Fibrous dysplasia. Pathophysiology, evaluation, and treatment. J Bone Joint Surg Am. 2005;87 (8): 1848-64.
15. Munksgaard, Svenssen P. et al. “Mazabraud’s Syndrome: Case Report and Literature Review.” Acta Radiologica Short Reports 2.4 (2013): 2047981613492532. PMC. Web. 21 Feb. 2016.
16. Lopez-Ben R, Pitt MJ, Jaffe KA, et al. Osteosarcoma in a patient with McCune-Allbright syndrome and Mazabraud’s syndrome. Skeletal Radiol 1999;28:522–6.
17. Witkin GB, Guilford WB, Siegal GP. Osteogenic sarcoma and soft tissue myxoma in a patient with fibrous dysplasia and hemoglobins J Baltimore and S. Clin Orthop Relat Res 1986;204:245–52.
18. Jhala DN, Eltoum I, Carroll AJ, et al. Osteosarcoma in a patient with McCune-Allbright syndrome and Mazabraud’s syndrome: A case report emphasizing the cytological and cytogenetic findings. Hum Pathol 2003; 34:1354–7.
19. Crawford EA, Brooks JS, Ogilvie CM. Osteosarcoma of the proximal part of the radius in Mazabraud syndrome. A case report. J Bone Joint Surg Am 2009; 91:955–60.
20. Biazzo A, Di Bernardo A, Parafioriti A, Confalonieri N. Mazabraud syndrome associated with McCune-Allbright syndrome: a case report and review of the literature. (2017) Acta Bio-medica : Atenei Parmensis. 88 (2): 198-200.
21. Szendroi M, Rahoty P, Antal I, Kiss J. Fibrous dysplasia associated with intramuscular myxoma (Mazabraud’s syndrome): a long-term follow-up of three cases. J Cancer Res Clin Oncol 1998; 124:401-6.
22. Van der Wal WA, Unal H, de Rooy JW, et al. Fibrous dysplasia of bone associated with soft-tissue myxomas as well as an intra-osseous myxoma in a woman with Mazabraud’s syndrome: A case report. J Med Case Reports 2011; 5:239.
23. Lane JM, Khan SN, O’Connor WJ, et al. Bisphosphonate therapy in fibrous dysplasia. Clin Orthop Relat Res 2001;382:6–12
24. Vescini F, Falchetti A, Tonelli V, Carpentieri M, Cipri C, Cosso R, Kara E, Triggiani V, Grimaldi F. Mazabraud's Syndrome: A Case Report And Up-To-Date. Literature Review.Endocrine, metabolic & immune disorders drug targets. 2019. Volume 19, Issue 6