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Presented by Dr. Jonathan Epstein and prepared by Dr. Sintawat Wangsiricharoen
A 46 year old man underwent a nephrectomy for a 3.5 cm solid and cystic mass.
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1. Question
A 46 year old man underwent a nephrectomy for a 3.5 cm solid and cystic mass.
Choose the correct diagnosis:
Correct
Answer: B. Eosinophilic solid and cystic RCC (ESC RCC)
Microscopic description: The tumor is well circumscribed and non-encapsulated tumor with solid and cystic growth. The solid tumor areas show diffuse and compact nested growth. The cells have eosinophilic, voluminous cytoplasm, with numerous coarse amphophilic cytoplasmic granules (‘stippling’). The nuclei are round to oval, without prominent nucleoli. Cyst lining has a hobnail arrangement. Small clusters of admixed foamy histiocytes and lymphocytes are noted.
Discussion: ESC RCC is a recently described entity and the case shown here is classic for this entity. The great majority of ESC RCC are sporadic, but rare tumors with identical morphology have also been reported in patients with tuberous sclerosis. ESC RCC are typically solitary and low-stage tumors, but occasional multifocal and bilateral cases have been documented. Most are in females, with a broad age range, including pediatric patients. The vast majority of ESC RCC are indolent tumors, but rare cases have been reported with metastases. IHC reactivity for CK20 (either diffuse or focal) is present in about 85% of cases, with negative or very focally positive CK7. Molecular evaluation of sporadic ESC RCC by next generation sequencing (NGS) has demonstrated consistent and mutually exclusive, somatic bi-allelic mutations in the TSC genes, TSC1 and TSC2.
Incorrect
Answer: B. Eosinophilic solid and cystic RCC (ESC RCC)
Microscopic description: The tumor is well circumscribed and non-encapsulated tumor with solid and cystic growth. The solid tumor areas show diffuse and compact nested growth. The cells have eosinophilic, voluminous cytoplasm, with numerous coarse amphophilic cytoplasmic granules (‘stippling’). The nuclei are round to oval, without prominent nucleoli. Cyst lining has a hobnail arrangement. Small clusters of admixed foamy histiocytes and lymphocytes are noted.
Discussion: ESC RCC is a recently described entity and the case shown here is classic for this entity. The great majority of ESC RCC are sporadic, but rare tumors with identical morphology have also been reported in patients with tuberous sclerosis. ESC RCC are typically solitary and low-stage tumors, but occasional multifocal and bilateral cases have been documented. Most are in females, with a broad age range, including pediatric patients. The vast majority of ESC RCC are indolent tumors, but rare cases have been reported with metastases. IHC reactivity for CK20 (either diffuse or focal) is present in about 85% of cases, with negative or very focally positive CK7. Molecular evaluation of sporadic ESC RCC by next generation sequencing (NGS) has demonstrated consistent and mutually exclusive, somatic bi-allelic mutations in the TSC genes, TSC1 and TSC2.
