CANCER AS A MARKER OF GENETIC MEDICAL DISEASE - AN UNUSUAL CASE OF MEDULLARY CARCINOMA OF THE KIDNEY

Medullary carcinoma is a recently recognized tumor of the kidney with distinctive microscopic features; the most notable are diffuse and gla ndular growth patterns, inflammatory infiltrates, and rhabdoid/plasmac ytoid cells. It is a clinically aggressive tumor that occurs in relati vely young patients. Moreover, this tumor shows a peculiar clinical as sociation: it occurs in patients with sickle cell hemoglobinopathy. Th e case presented is that of a 37-year-old black woman with a history o f bronchial asthma who died suddenly. Autopsy showed a 4-cm renal mass with extension to the inferior vena cava and metastases to the liver. Histologic evaluation showed the characteristic findings of medullary carcinoma of the kidney. This diagnosis prompted the investigation an d subsequent detection of sickle cell trait in the deceased, alerting the family to the genetic nature of her illness. This case is the firs t report of this entity since the original described series of patient s and shows the unique nature of this cancer as a marker of a genetic medical disease.