BCR/ABL1 fluorescence in situ hybridization fusion signals on both copies of chromosome 22 in a Philadelphia-masked chronic myeloid leukemia case: implication for the therapy
| Autor: | Gabriella De Canal, Valentina Guido, Valentina Motta, Silvia Soriani, Emanuela Bonoldi, Silvio Veronese, Lorenza Romitti, Clara Cesana, Elena De Paoli, Giambattista Bertani |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2021 |
| Předmět: |
0301 basic medicine
Philadelphia Chromosome Negative Chronic Myeloid Leukemia Case Report Chromosomal translocation 03 medical and health sciences 0302 clinical medicine hemic and lymphatic diseases medicine masked Philadelphia CML p.(Tyr315Ile) mutation medicine.diagnostic_test business.industry lcsh:RC633-647.5 Philadelphia chromosome-negative Chromosome Myeloid leukemia Hematology lcsh:Diseases of the blood and blood-forming organs medicine.disease Molecular biology 030104 developmental biology Fusion transcript 030220 oncology & carcinogenesis Trisomy business Chromosome 22 Fluorescence in situ hybridization |
| Zdroj: | Hematology Reports, Vol 13, Iss 1 (2021) Hematology Reports |
| ISSN: | 2038-8330 2038-8322 |
| Popis: | The cytogenetic hallmark of Chronic Myeloid Leukemia (CML) is the presence of Philadelphia (Ph) chromosome, which results from a reciprocal translocation t(9;22)(q34;q11). In this report, we describe a CML patient with no evidence of Ph chromosome but trisomy of chromosome 8 as single cytogenetic abnormality and a typical e14a2 (b3a2) BCR-ABL1 fusion transcript. Fluorescence In Situ Hybridization (FISH) analysis revealed an uncommon signal pattern: the fusion signals were located on both copies of chromosome 22. During the course of the disease the appearance of the p.(Tyr315Ile) mutation was recorded. To the best of our knowledge this is the first Ph chromosome-negative CML case with e14a2 (b3a2) BCR-ABL1 transcript and p.(Tyr315Ile) mutation. |
| Databáze: | OpenAIRE |
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