Development of a mantle cell lymphoma in an ATM heterozygous woman after occupational exposure to ionising radiation and somatic mutation of the second allele.

Abstract:

:Predisposition to lymphomagenesis is a well-known phenomenon of ataxia-telangiectasia, a recessive disorder caused by germline inactivation of ATM. ATM encodes a protein implicated in the repair of radiation induced double-strand breaks. Biallelic ATM inactivation was described also in sporadic lymphoid malignancies, supporting a role of ATM as a tumour suppressor gene. It is, however, still unclear whether ATM heterozygotes are at higher risk of tumours. We describe an ATM heterozygous patient, who developed a mantle cell lymphoma (MCL) after occupational exposure to ionising radiation and somatic mutation of the second ATM allele supporting the contention that heterozygous germline ATM alterations in combination with irradiation exposure predisposes to sporadic MCL.

journal_name

Leuk Res

journal_title

Leukemia research

authors

Briani C,Schlotter M,Lichter P,Kalla C

doi

10.1016/j.leukres.2005.11.010

keywords:

subject

Has Abstract

pub_date

2006-09-01 00:00:00

pages

1193-6

issue

9

eissn

0145-2126

issn

1873-5835

pii

S0145-2126(05)00434-0

journal_volume

30

pub_type

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