Open AccessAcute Myeloid Leukaemia after Treatment for Acute Lymphoblastic Leukaemia in Girl with Bloom Syndrome
Author(s) -
Madeleine Adams,
Meriel Jenney,
Laz Lazarou,
Rhian White,
S Birdsall,
Timo Staab,
Detlev Schindler,
Stefan Meyer
Publication year - 2013
Publication title -
journal of genetic syndromes and gene therapy
Language(s) - English
Resource type - Journals
ISSN - 2157-7412
DOI - 10.4172/2157-7412.1000177
Subject(s) - bloom syndrome , frameshift mutation , medicine , myeloid , haematopoiesis , mutation , germline mutation , genome instability , immunology , cancer research , genetics , biology , gene , helicase , dna damage , stem cell , dna , rna
Bloom syndrome (BS) is an inherited genomic instability disorder caused by disruption of the BLM helicase and confers an extreme cancer predisposition. Here we report on a girl with BS who developed acute lymphoblastic leukaemia (ALL) at age nine, and treatment-related acute myeloid leukaemia (t-AML) aged 12. She was compound heterozygous for the novel BLM frameshift deletion c.1624delG and the previously described c.3415C>T nonsense mutation. Two haematological malignancies in a child with BS imply a fundamental role for BLM for normal haematopoiesis, in particular in the presence of genotoxic stress.