Premium
Rearrangement between the MYH11 gene at 16p13 and D12S158 at 12p13 in a case of acute myeloid leukemia M1 (AML‐M1)
Author(s) -
La Starza Roberta,
Wlodarska Iwona,
Matteucci Caterina,
Falzetti Daniela,
Baens Mathijs,
Martelli Massimo F.,
Van den Berghe Herman,
Marynen Peter,
Mecucci Cristina
Publication year - 1998
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/(sici)1098-2264(199809)23:1<10::aid-gcc2>3.0.co;2-9
Subject(s) - fluorescence in situ hybridization , biology , chromosomal translocation , microbiology and biotechnology , myeloid leukemia , karyotype , derivative chromosome , fusion gene , cosmid , breakpoint , genetics , chromosome 16 , cytogenetics , chromosome , cancer research , gene
A case of acute myeloid leukemia (AML) M1 with bone marrow eosinophilia was characterized by cytogenetics and fluorescence in situ hybridization (FISH). A complex karyotype including a der(12)t(12;17)(p12‐13;q11) and a der(16)t(16;20)(p13;p11) was found at diagnosis. FISH studies with probes for chromosome 16 and for the short arm of chromosome 12 showed even more complex rearrangements. Analysis with a panel of probes for 12p showed that D12S158 spanned the breakpoint on the der(12). Unexpectedly, FISH signals were found on the der(12) and on the der(16) at band p13, the site of juxtaposition between the short arm of chromosome 16 and chromosome 20. Moreover, both YAC 854E2, containing the MYH11 gene, and cosmid ZIT133, encompassing the MYH11 breakpoint in inv(16) and t(16;16) of AML‐M4 with eosinophilia, demonstrated fluorescent signals on the normal 16, on the der(16), and on the der(12). These data clearly support a reciprocal exchange between D12S158 at 12p13.3 and the MYH11 gene at 16p13. In addition, experiments with two PAC clones for the CBFB gene at 16q22 excluded the presence of a masked inv(16). An interstitial deletion, independent from the translocation and flanked by VWF and KRAS2 , was also detected on the der(12). Genes Chromosomes Cancer 23:10–15, 1998. © 1998 Wiley‐Liss, Inc.