FISH identifies inv(16)(p13q22) masked by translocations in three cases of acute myeloid leukemia
| العنوان: | FISH identifies inv(16)(p13q22) masked by translocations in three cases of acute myeloid leukemia |
|---|---|
| المؤلفون: | Lucien Noens, Judith Dierlamm, Jj. Cassiman, Hilde Vranckx, Michel Stul, Martin Kramer, H. Van den Berghe, Demo Weghuis, Lucienne Michaux, Anne Hagemeijer, Dominik Selleslag, Franki Speleman |
| المصدر: | Genes, Chromosomes & Cancer, 22, 87-94 Genes, Chromosomes & Cancer, 22, pp. 87-94 |
| سنة النشر: | 1998 |
| مصطلحات موضوعية: | Genetics, Cancer Research, medicine.diagnostic_test, Breakpoint, Myeloid leukemia, Karyotype, Chromosomal translocation, Biology, Molecular biology, Chromosome 16, medicine, De rol van chromosoomafwijkingen en (anti-)oncogenen in humane tumoren, The role of chromosomal aberrations and (anti-)oncogenes in human tumours, Fluorescence in situ hybridization, Southern blot, Chromosomal inversion |
| الوصف: | The inv(lb)(p13q22) masked by different translocations was detected by fluorescence in situ hybridization (FISH) and confirmed by molecular analysis in three adult patients presenting with acute myeloid leukemia (AML)-M2 (cases I and 3) and M4Eo (case 2). Cytogenetic analysis revealed 47,XX,t(9;16)(p23;p13),+22 (case I); 46,XX,t(1;16)(p32;p13) (case 2); and 46,XY,?del(16)(q22) (case 3). Using a panel of probes for chromosomes 1, 9, 16, and 20 as well as probes to detect inv(16), i.e., two cosmid contigs hybridizing proximally and distally to the 16p13 breakpoint, FISH demonstrated inv(16) involving the derivative 16 as well as reciprocal translocations between 16q22-qter and 9p24 (case I), 1p32 (case 2), and 20q13 (case 3). In addition, a small interstitial del(16)(p13p13) proximal to the MYH11 breakpoint was detected in case I. Reverse transcriptase-polymerase chain reaction (RT-PCR) and Southern blot analysis showed a CBFB-MYH11 fusion transcript and MYH11 rearrangement, respectively, in all three cases. We conclude that: I) inv(16) can be masked by other structural abnormalities involving chromosome 16; 2) some of the so-called variant translocations not explored at the molecular level may in fact represent a masked inv(16); and 3) FISH, RT-PCR, and Southern blot analyses are reliable tools to detect masked inv(16) and should be applied in all AML cases with structural changes of chromosome 16. (C) 1998 Wiley-Liss, Inc. |
| تدمد: | 1045-2257 |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dd8f41ea80974f6f557a711f4f083ac9 https://hdl.handle.net/2066/188775 |
| Rights: | RESTRICTED |
| رقم الانضمام: | edsair.doi.dedup.....dd8f41ea80974f6f557a711f4f083ac9 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 10452257 |
|---|