Complex rearrangement in acute myeloid leukemia M2 with RUNX1/RUNX1T1 fusion involving chromosomes 8, 17 and 21
| Autor: | Aditi Sarkar, Moneeb A.K. Othman, Shiba Ranjan Mishra, Vandana Lal, Leena Rawal, Atul Thatai, Saurabh Bhattacharya |
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| Rok vydání: | 2021 |
| Předmět: |
0301 basic medicine
medicine.medical_specialty Case Report Chromosomal translocation Chromosomal rearrangement QH426-470 Biology Biochemistry Fusion gene 03 medical and health sciences chemistry.chemical_compound 0302 clinical medicine hemic and lymphatic diseases Genetics medicine Variant translocation t(8 21) Molecular Biology Genetics (clinical) Acute myeloid leukemia Molecular cytogenetics Biochemistry (medical) Cytogenetics RUNX1T1 Myeloid leukemia medicine.disease Molecular biology Leukemia 030104 developmental biology RUNX1 chemistry 030220 oncology & carcinogenesis Molecular Medicine |
| Zdroj: | Molecular Cytogenetics Molecular Cytogenetics, Vol 14, Iss 1, Pp 1-5 (2021) |
| ISSN: | 1755-8166 |
| Popis: | Background The translocation t(8;21)(q22;q22) is one of the most frequent chromosomal abnormalities associated with acute myeloid leukemia (AML) sub type M2. About 3–5 % of cases with additional chromosomal abnormalities, including structural and numerical ones, are reported to include a complex translocation t(8;21;N). Case presentation Here we report a chromosome rearrangement observed in a 19 years-old female diagnosed with AML-M2. When subjected to (molecular) cytogenetic analyses a complex three-way translocation involving chromosomes 8, 17 and 21 was detected, forming not a t(8;21;17) as one would expect. Real time-polymerase chain reaction analysis using 6 AML specific markers showed the presence of RUNX1/RUNX1T1 fusion gene transcripts identical to those found in classical translocation t(8;21) coupled with presence of FLT3-ITD mutation identified by fragment analysis. Conclusions The present case highlights importance of complex rearrangements rarely encountered in AML, suggesting that all involved regions harbor critical candidate genes regulating the pathogenesis of AML, leading to novel as well as well-known leukemia associated chromosomal aberrations. |
| Databáze: | OpenAIRE |
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