Cancer as a marker of genetic medical disease

An unusual case of medullary carcinoma of the kidney

N. V. Adsay, S. J. deRoux, W. Sakr, David Grignon

Research output: Contribution to journalArticle

24 Citations (Scopus)

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.

Original languageEnglish (US)
Pages (from-to)260-264
Number of pages5
JournalAmerican Journal of Surgical Pathology
Volume22
Issue number2
DOIs
StatePublished - 1998
Externally publishedYes

Fingerprint

Inborn Genetic Diseases
Medullary Carcinoma
Kidney
Neoplasms
Sickle Cell Trait
Hemoglobinopathies
Inferior Vena Cava
Autopsy
Asthma
Neoplasm Metastasis
Liver
Growth

Keywords

  • Genetic marker
  • Hemoglobinopathy
  • Kidney
  • Medullary carcinoma
  • Sickle cell

ASJC Scopus subject areas

  • Anatomy
  • Pathology and Forensic Medicine

Cite this

Cancer as a marker of genetic medical disease : An unusual case of medullary carcinoma of the kidney. / Adsay, N. V.; deRoux, S. J.; Sakr, W.; Grignon, David.

In: American Journal of Surgical Pathology, Vol. 22, No. 2, 1998, p. 260-264.

Research output: Contribution to journalArticle

@article{9c04df0c7a914298bf001deb2b30a98f,
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.",
keywords = "Genetic marker, Hemoglobinopathy, Kidney, Medullary carcinoma, Sickle cell",
author = "Adsay, {N. V.} and deRoux, {S. J.} and W. Sakr and David Grignon",
year = "1998",
doi = "10.1097/00000478-199802000-00017",
language = "English (US)",
volume = "22",
pages = "260--264",
journal = "American Journal of Surgical Pathology",
issn = "0147-5185",
publisher = "Lippincott Williams and Wilkins",
number = "2",

}

TY - JOUR

T1 - Cancer as a marker of genetic medical disease

T2 - An unusual case of medullary carcinoma of the kidney

AU - Adsay, N. V.

AU - deRoux, S. J.

AU - Sakr, W.

AU - Grignon, David

PY - 1998

Y1 - 1998

N2 - 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.

AB - 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.

KW - Genetic marker

KW - Hemoglobinopathy

KW - Kidney

KW - Medullary carcinoma

KW - Sickle cell

UR - http://www.scopus.com/inward/record.url?scp=0031892405&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0031892405&partnerID=8YFLogxK

U2 - 10.1097/00000478-199802000-00017

DO - 10.1097/00000478-199802000-00017

M3 - Article

VL - 22

SP - 260

EP - 264

JO - American Journal of Surgical Pathology

JF - American Journal of Surgical Pathology

SN - 0147-5185

IS - 2

ER -