Case Report

Korean J Hematol 2008; 43(1):

Published online March 30, 2008

https://doi.org/10.5045/kjh.2008.43.1.62

© The Korean Society of Hematology

피부 섬유모세포 염색체 절단검사로 진단된 Fanconi 빈혈 1예

이지정, 윤경빈, 김선영, 이미정, 정현주, 박준은, 김현주

충남대학교 의과대학 소아과학교실,
단국대학교 의과대학 소아과학교실,
아주대학교 의과대학 소아과학교실, 유전학교실

A Case of Fanconi Anemia Diagnosed by a Chromosome Breakage Test with Skin Fibroblasts

Ji Joung Lee, Kyung Bin Yun, Sun Young Kim, Mee Jeong Lee, Hyun Joo Jung,Jun Eun Park, Hyon Joo Kim

Department of Pediatrics, College of Medicine, Chungnam National University, Deajeon
Dankook University, Cheonan
Department of Pediatrics, Center for Genetic Disease, Ajou University College of Medicine, Suwon, Korea

Abstract

Fanconi anemia is an autosomal recessive disease that's characterized by congenital anomalies, defective hematopoiesis and a high risk of developing acute myeloid leukemia and certain solid tumors. The clinical phenotype is extremely variable; therefore, the diagnosis is frequently delayed until the pancytopenia appears. Chromosomal instability, especially on exposure to an alkylating agent, may be seen in affected patients and it is the basis for a diagnostic test. This cellular phenotype can be demonstrated in cultured T cells, B cells, fibroblasts and fetal cells cultured from both amniotic fluid and chorionic villi. But somatic mosaicism may make the diagnosis of Fanconi anemia difficult because of inconclusive chromosome breakage studies. If the test is negative in lymphocytes and yet the clinical setting is highly suspicious, then the skin fibroblasts must be assessed. Because skin fibroblasts are somatic cells, a definitive test can be performed on primary skin fibroblasts. In this report we describe a case of Fanconi anemia that was diagnosed with the use of cultured skin fibroblasts, and this was despite the normal breakage studies in the peripheral blood.

Keywords Fanconi anemia, Chromosome breakage test, Skin fibroblast

Article

Case Report

Korean J Hematol 2008; 43(1): 62-66

Published online March 30, 2008 https://doi.org/10.5045/kjh.2008.43.1.62

Copyright © The Korean Society of Hematology.

피부 섬유모세포 염색체 절단검사로 진단된 Fanconi 빈혈 1예

이지정, 윤경빈, 김선영, 이미정, 정현주, 박준은, 김현주

충남대학교 의과대학 소아과학교실,
단국대학교 의과대학 소아과학교실,
아주대학교 의과대학 소아과학교실, 유전학교실

A Case of Fanconi Anemia Diagnosed by a Chromosome Breakage Test with Skin Fibroblasts

Ji Joung Lee, Kyung Bin Yun, Sun Young Kim, Mee Jeong Lee, Hyun Joo Jung,Jun Eun Park, Hyon Joo Kim

Department of Pediatrics, College of Medicine, Chungnam National University, Deajeon
Dankook University, Cheonan
Department of Pediatrics, Center for Genetic Disease, Ajou University College of Medicine, Suwon, Korea

Abstract

Fanconi anemia is an autosomal recessive disease that's characterized by congenital anomalies, defective hematopoiesis and a high risk of developing acute myeloid leukemia and certain solid tumors. The clinical phenotype is extremely variable; therefore, the diagnosis is frequently delayed until the pancytopenia appears. Chromosomal instability, especially on exposure to an alkylating agent, may be seen in affected patients and it is the basis for a diagnostic test. This cellular phenotype can be demonstrated in cultured T cells, B cells, fibroblasts and fetal cells cultured from both amniotic fluid and chorionic villi. But somatic mosaicism may make the diagnosis of Fanconi anemia difficult because of inconclusive chromosome breakage studies. If the test is negative in lymphocytes and yet the clinical setting is highly suspicious, then the skin fibroblasts must be assessed. Because skin fibroblasts are somatic cells, a definitive test can be performed on primary skin fibroblasts. In this report we describe a case of Fanconi anemia that was diagnosed with the use of cultured skin fibroblasts, and this was despite the normal breakage studies in the peripheral blood.

Keywords: Fanconi anemia, Chromosome breakage test, Skin fibroblast

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