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Childhood acute lymphoblastic leukaemia with ider(21)(q10)t(12;21)(p12;q22): a new recurrent abnormality showing ETV6/CBFA2 fusion
Author(s) -
ANDREASSON PATRIK,
JOHANSSON BERTIL,
STRÖMBECK BODIL,
DONNÉR MIKAEL,
MITELMAN FELIX,
HÖGLUND MATTIAS
Publication year - 1997
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1046/j.1365-2141.1997.1652982.x
Subject(s) - etv6 , abnormality , biology , fluorescence in situ hybridization , chromosomal translocation , microbiology and biotechnology , medicine , genetics , gene , chromosome , psychiatry
The cytogenetically unidentifiable t(12;21) (p12;q22), resulting in ETV6/CBFA2 fusion, is the most frequent chromosomal aberration in childhood acute lymphoblastic leukaemia (ALL). We report a variant, ider(21) (q10)t(12;21)(p12;q22), which was shown to contain double ETV6/CBFA2 fusions by fluorescence in situ hybridization. This is the second case of such an ider(21) in childhood ALL, suggesting that it is a new recurrent abnormality. Since the ider(21) is cytogenetically indistinguishable from i(21)(q10) and idic(21)(p11), changes associated with similar clinical features as the t(12;21), i.e. pre‐B‐cell ALL and age 1–10 years, we suggest that all ALL displaying these changes should be tested for ETV6/CBFA2 fusion transcript.