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Differences in CTG triplet repeat expansion in leukemic cells and normal lymphocytes from a 14‐year‐old female with congenital myotonic dystrophy
Author(s) -
Akiyama Masaharu,
Yuza Yuki,
Yokokawa Yuichi,
Yokoi Kentaro,
Ariga Masamichi,
Eto Yoshikatsu
Publication year - 2008
Publication title -
pediatric blood and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.116
H-Index - 105
eISSN - 1545-5017
pISSN - 1545-5009
DOI - 10.1002/pbc.21654
Subject(s) - myotonic dystrophy , medicine , chemotherapy , gene , pathology , genetics , biology
Abstract We describe a rare case of acute lymphoblastic leukemia in a 14‐year‐old female with congenital myotonic dystrophy manifested as mental retardation, extensive contractures of multiple joints of the lower extremities, and severe scoliosis. Because of the potential toxicity of chemotherapy and the patient's poor performance status, a modified chemotherapy regimen was administered. Analysis of the greatly expanded number of CTG repeats at the 3′ untranslated region of DMPK gene showed that the number of repeats was 233 greater in leukemic cells than in normal lymphocytes; this elongation may have occurred during the cellular proliferation of leukemic clones. Pediatr Blood Cancer 2008;51:563–565. © 2008 Wiley‐Liss, Inc.