Alveolar rhabdomyosarcoma with neuroendocrine/neuronal differentiation: report of 3 cases.
The aim of this study is to report the clinicopathologic characteristics of 3 cases of alveolar rhabdomyosarcoma with neuroendocrine/neuronal differentiation. Specimens of 3 cases of alveolar rhabdomyosarcoma were studied using histologic, immunohistochemical, ultrastructural, and molecular genetic techniques. The patients were a 19-year-old man with metastatic alveolar rhabdomyosarcoma in a groin lymph node, a 16-year-old girl with alveolar rhabdomyosarcoma of the perineum, and a 20-year-old man with recurrent orbital alveolar rhabdomyosarcoma. Microscopically, case 1 was composed of compact sheets of medium to large tumor cells. Cases 2 and 3 were small blue round cell tumors. Cases 1 and 3 were solid throughout, whereas case 2 demonstrated alveolar and solid architecture. By immunohistochemistry, the following markers were positive: desmin (3/3), myogenin (3/3), synaptophysin (3/3), and chromogranin (2/3). Ultrastructurally, sarcomeric filaments were seen in all cases, while neuroendocrine granules were detected only in case 1. PAX:FKHR fusion transcript was identified in case 2, case 3 had a variant PAX3 transcript, and case 1 was negative. The data presented expands the known differentiation of alveolar rhabdomyosarcoma.
Houreih
M Adib
MA
Department of Histopathology, Christie Hospital NHS Foundation Trust, Manchester, United Kingdom.
Lin
Amy Y
AY
Eyden
Brian
B
Menasce
Lia P
LP
Harrison
James
J
Jones
David
D
Folberg
Robert
R
Chejfec
Gregorio
G
Banerjee
S Sankar
SS
D000293:Adolescent; D014408:Biomarkers, Tumor / Q000378:metabolism; D002454:Cell Differentiation; D002864:Chromogranins / Q000378:metabolism; D003893:Desmin / Q000378:metabolism; D005260:Female; D005833:Genital Neoplasms, Female / Q000175:diagnosis / Q000378:metabolism / Q000473:pathology*; D006801:Humans; D008223:Lymphoma / Q000175:diagnosis / Q000378:metabolism / Q000473:pathology*; D008297:Male; D018008:Myogenin / Q000378:metabolism; D055099:Neuroendocrine Cells / Q000378:metabolism / Q000473:pathology*; D009474:Neurons / Q000378:metabolism / Q000473:pathology*; D009918:Orbital Neoplasms / Q000175:diagnosis / Q000378:metabolism / Q000473:pathology*; D018232:Rhabdomyosarcoma, Alveolar / Q000175:diagnosis / Q000378:metabolism / Q000473:pathology*; D016708:Synaptophysin / Q000378:metabolism; D055815:Young Adult
D014408:Biomarkers, Tumor; D002864:Chromogranins; D003893:Desmin; D018008:Myogenin; D016708:Synaptophysin