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Presented by Dr. Andres Matoso and prepared by Dr. Tatianna Larman.
A young adult with a paratesticular tumor.
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Question 1 of 1
1. Question
A young adult with a paratesticular mass. Choose the correct diagnosis.
Correct
Answer: Rhabdomyosarcoma
Histology and discussion: This tumor is composed of a monomorphic population of round and spindle cells with high nuclear to cytoplasmic ratio and scant cytoplasm. Nucleoli are inconspicuous. There is brisk mitotic activity and frequent apoptotic bodies. Given the location and the morphologic features, rhabdomyosarcoma is at the top of the differential. Diffuse nuclear immunostaining for myogenin D confirms the diagnosis, as it is a very specific marker. Rhabdomyosarcomas are also frequently positive for desmin, however this marker is not helpful in differentiating it from leiomyosarcoma. Among the subtypes of rhabdomyosarcoma, this is consistent with embryonal given its primitive poorly differentiated morphology. Cytogenetically, embryonal rhabdomyosarcoma is characterized by LOH of chromosome 11p15.5, trisomy 8, and upregulation of GLI1 and PTCH1. Embryonal rhabdomyosarcoma has an intermediate prognosis.
References:
1. Int J Surg Pathol. 2017 Apr 1:1066896917707040.
2. Pediatr Blood Cancer. 2017 Feb 16. doi: 10.1002/pbc.26486.Incorrect
Answer: Rhabdomyosarcoma
Histology and discussion: This tumor is composed of a monomorphic population of round and spindle cells with high nuclear to cytoplasmic ratio and scant cytoplasm. Nucleoli are inconspicuous. There is brisk mitotic activity and frequent apoptotic bodies. Given the location and the morphologic features, rhabdomyosarcoma is at the top of the differential. Diffuse nuclear immunostaining for myogenin D confirms the diagnosis, as it is a very specific marker. Rhabdomyosarcomas are also frequently positive for desmin, however this marker is not helpful in differentiating it from leiomyosarcoma. Among the subtypes of rhabdomyosarcoma, this is consistent with embryonal given its primitive poorly differentiated morphology. Cytogenetically, embryonal rhabdomyosarcoma is characterized by LOH of chromosome 11p15.5, trisomy 8, and upregulation of GLI1 and PTCH1. Embryonal rhabdomyosarcoma has an intermediate prognosis.
References:
1. Int J Surg Pathol. 2017 Apr 1:1066896917707040.
2. Pediatr Blood Cancer. 2017 Feb 16. doi: 10.1002/pbc.26486.
