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CBFB/MYH11 fusion in a patient with AML‐M4Eo and cytogenetically normal chromosomes 16
Author(s) -
PircDanoewinata Hendrati,
Dauwerse Hans G.,
König Margit,
Chudoba Ilse,
Mitterbauer Margit,
Jäger Ulrich,
Breuning Martijn H.,
Haas Oskar A.
Publication year - 2000
Publication title -
genes, chromosomes and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.754
H-Index - 119
eISSN - 1098-2264
pISSN - 1045-2257
DOI - 10.1002/1098-2264(2000)9999:9999<::aid-gcc1020>3.0.co;2-0
Subject(s) - cosmid , biology , chromosome 16 , myeloid leukemia , fluorescence in situ hybridization , chromosomal inversion , fusion gene , genetics , locus (genetics) , fusion transcript , trisomy , microbiology and biotechnology , chromosome , gene , cancer research , karyotype
We present a unique case of acute myeloid leukemia M4Eo (AML‐M4Eo) with a CBFB / MYH11 fusion transcript and a trisomy 22, but in whom cytogenetic analyses did not disclose an inv(16). Fluorescence in situ hybridization (FISH) analysis with chromosome arm‐specific painting probes as well as with the c40 and c36 cosmids also revealed no evidence for an inv(16), whereas the application of locus‐specific probes confirmed the presence of a masked inv(16). The results of our comprehensive FISH investigations indicate that the events leading to this masked inv(16) were complex and concurred with deletions on both the long and short arms. The most likely explanation for the formation of the relevant CBFB / MYH11 fusion is an insertion of parts of the MYH11 into the CBFB gene, although it is also possible that it was formed by a double inversion. © 2000 Wiley‐Liss, Inc.