Definition: Sclerosing rhabdomyosarcoma, a particular phenotypic variant of rhabdomyosarcoma initially described in the adult population, has emerged as a potential pitfall in the evaluation of pediatric sarcomas.
Sclerosing rhabdomyosarcoma (RMS) is characterized by a hyalinizing, matrix-rich stroma. It is a newly described variant of rhabdomyosarcoma with a predilection for the head and neck.
Synopsis
prominent sclerosing hyaline matrix
pseudovascular and microalveolar architectural foci
focal positivity for desmin, smooth muscle actin, and myogenin.
Ultrastructure
irregularly distributed disorganized filaments without clear evidence of Z-bands
richly collagenized matrix
Differential diagnosis
Because of its densely hyalinized collagenous matrix and its occasional expression of a pseudovascular pattern of growth, sclerosing rhabdomyosarcoma has been at times misdiagnosed as chondrosarcoma, osteosarcoma, or angiosarcoma. (12218574)
Comparative genomic hybridization, a sharply delineated
loss of chromosomal region 10q22 (17016719)
loss of chromosome Y (17016719)
gain of chromosome 18 (trisomy) (17016719)
Cytogenetics
mild hyperdiploidy (15630526)
near-tetraploidy (15630526)
del(1)(p22) (15660283)
trisomy 11 (+11) (15660283)
trisomy 16 (+16) (15660283)
tumoral trisomy 18 (+18) (15660283)
tumoral trisomy 21 (+21) (15660283)
monosomy 22 (-22) (15660283)
CGH
10q22 loss (17016719)
Chr.Y loss (17016719)
Chr.18 gain (trisomy 18) (17016719)
See also
rhabdomyosarcomas
References
Kuhnen C, Herter P, Leuschner I, Mentzel T, Druecke D, Jaworska M, Johnen G. Sclerosing pseudovascular rhabdomyosarcoma-immunohistochemical, ultrastructural, and genetic findings indicating a distinct subtype of rhabdomyosarcoma. Virchows Arch. 2006 Nov;449(5):572-8. PMID: 17016719
Zambrano E, Perez-Atayde AR, Ahrens W, Reyes-Mugica M. Pediatric sclerosing rhabdomyosarcoma. Int J Surg Pathol. 2006 Jul;14(3):193-9. PMID: 16959698
Croes R, Debiec-Rychter M, Cokelaere K, De Vos R, Hagemeijer A, Sciot R. Adult sclerosing rhabdomyosarcoma: cytogenetic link with embryonal rhabdomyosarcoma. Virchows Arch. 2005 Jan;446(1):64-7. PMID: 15660283
Knipe TA, Chandra RK, Bugg MF. Sclerosing rhabdomyosarcoma: a rare variant with predilection for the head and neck. Laryngoscope. 2005 Jan;115(1):48-50. PMID: 15630365
Vadgama B, Sebire NJ, Malone M, Ramsay AD. Sclerosing rhabdomyosarcoma in childhood: case report and review of the literature. Pediatr Dev Pathol. 2004 Jul-Aug;7(4):391-6. PMID: 15383934
Chiles MC, Parham DM, Qualman SJ, Teot LA, Bridge JA, Ullrich F, Barr FG, Meyer WH; Soft Tissue Sarcoma Committee of the Children’s Oncology Group. Sclerosing rhabdomyosarcomas in children and adolescents: a clinicopathologic review of 13 cases from the Intergroup Rhabdomyosarcoma Study Group and Children’s Oncology Group. Pediatr Dev Pathol. 2004 Nov-Dec;7(6):583-94. PMID: 15630526
Vadgama B, Sebire NJ, Malone M, Ramsay AD. Sclerosing rhabdomyosarcoma in childhood: case report and review of the literature. Pediatr Dev Pathol. 2004 Jul-Aug;7(4):391-6. PMID: 15383934
Folpe AL, McKenney JK, Bridge JA, Weiss SW. Sclerosing rhabdomyosarcoma in adults: report of four cases of a hyalinizing, matrix-rich variant of rhabdomyosarcoma that may be confused with osteosarcoma, chondrosarcoma, or angiosarcoma. Am J Surg Pathol. 2002 Sep;26(9):1175-83. PMID: 12218574
Mentzel T, Katenkamp D. Sclerosing, pseudovascular rhabdomyosarcoma in adults. Clinicopathological and immunohistochemical analysis of three cases. Virchows Arch. 2000 Apr;436(4):305-11. PMID: 10834531