Two brothers with ataxia-telangiectasia-like disorder with lung adenocarcinoma

Naoki Uchisaka; Naomi Takahashi; Masaki Sato; Akira Kikuchi; Shinji Mochizuki; Kohsuke Imai; Shigeaki Nonoyama; Osamu Ohara; Fumiaki Watanabe; Shuki Mizutani; Ryoji Hanada; Tomohiro Morio

doi:10.1016/j.jpeds.2009.02.037

Two brothers with ataxia-telangiectasia-like disorder with lung adenocarcinoma

J Pediatr. 2009 Sep;155(3):435-8. doi: 10.1016/j.jpeds.2009.02.037.

Authors

Naoki Uchisaka¹, Naomi Takahashi, Masaki Sato, Akira Kikuchi, Shinji Mochizuki, Kohsuke Imai, Shigeaki Nonoyama, Osamu Ohara, Fumiaki Watanabe, Shuki Mizutani, Ryoji Hanada, Tomohiro Morio

Affiliation

¹ Division of Hematology/Oncology, Saitama Children's Medical Center, Saitama, Japan.

PMID: 19732584
DOI: 10.1016/j.jpeds.2009.02.037

Abstract

We report on 2 brothers with ataxia-telangiectasia-like disorder with lung adenocarcinoma. They both had ataxia with cerebellar atrophy and mental retardation. They had the same mutation of the MRE11 gene, which has not been reported previously (c.727T>C and g.24994G>A).

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Adenocarcinoma / diagnosis
Adenocarcinoma / drug therapy
Adenocarcinoma / genetics*
Adenocarcinoma / radiotherapy
Adolescent
Antineoplastic Agents / therapeutic use
Ataxia Telangiectasia / diagnosis
Ataxia Telangiectasia / genetics*
Autopsy
CA-125 Antigen / blood
Carboplatin / therapeutic use
Child
Combined Modality Therapy
DNA-Binding Proteins / genetics
Docetaxel
Drug Therapy, Combination
Fatal Outcome
Humans
Lung Neoplasms / diagnosis
Lung Neoplasms / drug therapy
Lung Neoplasms / genetics*
Lung Neoplasms / radiotherapy
MRE11 Homologue Protein
Male
Mutation
Siblings
Taxoids / therapeutic use

Substances

Antineoplastic Agents
CA-125 Antigen
DNA-Binding Proteins
MRE11 protein, human
Taxoids
Docetaxel
Carboplatin
MRE11 Homologue Protein