title: Cancer as a marker of genetic medical disease: an unusual case of medullary carcinoma of the kidney.
abstract: Medullary carcinoma is a recently recognized tumor of the kidney with distinctive microscopic features; the most notable are diffuse and glandular growth patterns, inflammatory infiltrates, and rhabdoid/plasmacytoid cells. It is a clinically aggressive tumor that occurs in relatively young patients. Moreover, this tumor shows a peculiar clinical association: it occurs in patients with sickle cell hemoglobinopathy. The case presented is that of a 37-year-old black woman with a history of 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 and subsequent detection of sickle cell trait in the deceased, alerting the family to the genetic nature of her illness. This case is the first report of this entity since the original described series of patients and shows the unique nature of this cancer as a marker of a genetic medical disease.
authors.affiliation: Department of Pathology, Harper Hospital, The Karmanos Cancer Institute Wayne State University Medical School, Detroit, Michigan 48201, USA.
authors.forename: N V
authors.initials: NV
authors.lastname: Adsay
authors.forename: S J
authors.initials: SJ
authors.lastname: deRoux
authors.forename: W
authors.initials: W
authors.lastname: Sakr
authors.forename: D
authors.initials: D
authors.lastname: Grignon
mesh_terms: D000328:Adult; D018276:Carcinoma, Medullary / Q000097:blood / Q000235:genetics* / Q000473:pathology; D003645:Death, Sudden; D005260:Female; D005819:Genetic Markers; D006801:Humans; D007680:Kidney Neoplasms / Q000097:blood / Q000235:genetics* / Q000473:pathology; D012805:Sickle Cell Trait
chemical_list: D005819:Genetic Markers