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Translocation t(1;9) is a recurrent cytogenetic abnormality associated with progression of essential thrombocythemia patients displaying the JAK2 V617F mutation |
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| Authors: | Leon Annette Staropoli John F Hernandez Jesus M Longtine Janina A Kuo Frank C Dal Cin Paola |
| Affiliation: | a GenPath, BioReference Laboratories, 481 Edward H. Ross Drive, Elmwood Park, NJ, USA b Department of Pathology, Massachusetts General Hospital, Boston, MA, USA c Unidad de Diagnóstico Molecular y Celular del Cáncer, IBMCC, Centro de Investigación del Cáncer, Universidad de Salamanca-CSIC y Servicio de Hematología, Hospital Universitario de Salamanca, Salamanca, Spain d Center for Advanced Molecular Diagnostics, Department of Pathology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA |
| Abstract: | A cohort of 338 patients diagnosed with myeloproliferative neoplasms was investigated by conventional cytogenetics and evaluated for the presence of the JAK2 V617F mutation. A t(1;9)(p10;q10) in addition to two extra der(1;9)(q10;p10) chromosomes was observed in two patients of essential thrombocythemia that transformed to acute myelogenous leukemia or to myelofibrosis. These findings suggest that the presence of extra derivative chromosomes der(1q;9p) in combination with the JAK2 V617F mutation may play a role in the progression of myeloproliferative neoplasms and supports the use of cytogenetics in the follow-up of the disease. |
| Keywords: | Translocation Essential thrombocythemia JAK2 Myeloproliferative neoplasm Derivative chromosome |
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