Colony-Forming Cell Assay Detecting the Co-Expression of JAK2V617F and BCR-ABL1 in the Same Clone: A Case Report
| Autor: | Maria Stella Pennisi, Stefania Stella, Livia Manzella, Francesco Di Raimondo, Michele Massimino, Adriana Puma, Chiara Romano, Sandra Di Gregorio, Fabio Stagno, Valentina Zammit, Silvia Rita Vitale, Elena Tirrò |
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| Rok vydání: | 2019 |
| Předmět: |
Oncogene
Cell Clone (cell biology) Hematology General Medicine Disease Biology Phenotype Fusion gene 03 medical and health sciences Haematopoiesis 0302 clinical medicine medicine.anatomical_structure Myeloproliferative Disorders hemic and lymphatic diseases 030220 oncology & carcinogenesis Cancer research medicine 030215 immunology |
| Zdroj: | Acta Haematologica. 141:261-267 |
| ISSN: | 1421-9662 0001-5792 |
| DOI: | 10.1159/000496821 |
| Popis: | BCR-ABL1-negative myeloproliferative disorders and chronic myeloid leukaemia are haematologic malignancies characterised by single and mutually exclusive genetic alterations. Nevertheless, several patients co-expressing the JAK2V617F mutation and the BCR-ABL1 transcript have been described in the literature. We report the case of a 61-year-old male who presented with an essential thrombocythaemia phenotype and had a subsequent diagnosis of chronic phase chronic myeloid leukaemia. Colony-forming assays demonstrated the coexistence of 2 different haematopoietic clones: one was positive for the JAK2V617F mutation and the other co-expressed both JAK2V617F and the BCR-ABL1 fusion gene. No colonies displayed the BCR-ABL1 transcript alone. These findings indicate that the JAK2V617F mutation was the founding genetic alteration of the disease, followed by the acquisition of the BCR-ABL1 chimeric oncogene. Our data support the hypothesis that a heterozygous JAK2V617F clone may have favoured the bi-clonal nature of this myeloproliferative disorder, generating clones harbouring a second transforming genetic event. |
| Databáze: | OpenAIRE |
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