Which of the following subtypes of renal cell carcinoma is associated with sickle cell anemia?
Medullary carcinoma
Hybrid chromophobe/oncocytoma
Nephroblastoma
Collecting duct carcinoma
Papillary carcinoma
Show Answer and Explanations
Medullary carcinoma — Correct answer
Correct. Medullary RCC is associated with sickle cell anemia.
Hybrid chromophobe/oncocytoma
Incorrect. Hybrid chromophobe/oncocytoma is specific for Birt-Hogg-Dube syndrome: (clear cell, papillary, chromophobe carcinoma and oncocytomas), facial fibrofolliculomas and fibroadenomas, and pulmonary cysts.
Nephroblastoma
Incorrect. Wilms tumor is associated with aberrant WT1 and WT2 expression, Denys-Drash (Wilms tumor, renal mesangial sclerosis, gonadoblastoma), WAGR (Wilms, anirdia, genitourinary malformation, mental retardation), and Beckwith-Wiedemann (hemihypertrophy, macroglossia, organomegaly, Wilms tumor, and 'blastomas - liver, pancreas and neural).
Collecting duct carcinoma
Incorrect. Collecting duct carcinoma is a very rare tumor that is known to be highly aggressive.
Papillary carcinoma
Incorrect. Papillary carcinoma is associated with +7, +17 and -Y. Associated syndromes include hereditary papillary RCC (MET gene) and hereditary leiomyoma and RCC (fumarate hydratase mutations)
Summary
Summary: Medullary RCC is associated with sickle cell anemia. Hybrid chromophobe/oncocytoma is specific for Birt-Hogg-Dube syndrome.