Isochromosome 17q10 associated with basophilia in primary myelofibrosis while with JAK2 inhibitor
| العنوان: | Isochromosome 17q10 associated with basophilia in primary myelofibrosis while with JAK2 inhibitor |
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| المؤلفون: | C. Prokopiou, N. Neokleous, M. Lerni, S. Koumas, O. Seimeni |
| المصدر: | Annals of Hematology. 94:1421-1422 |
| بيانات النشر: | Springer Science and Business Media LLC, 2015. |
| سنة النشر: | 2015 |
| مصطلحات موضوعية: | medicine.medical_specialty, Myeloid, business.industry, Isochromosome, Hematology, General Medicine, Neutropenia, medicine.disease, Gastroenterology, Transplantation, Basophilia, medicine.anatomical_structure, International Prognostic Scoring System, hemic and lymphatic diseases, Internal medicine, medicine, Bone marrow, business, Myelofibrosis |
| الوصف: | Dear Editor, Isochromosome 17 [i(17)(q10)] is a karyotypic abnormality observed in myeloid disorders mainly during disease evolution to acute myeloid leukaemia (AML) in Philadelphiapositive chronic myeloid leukaemia (CML). It has been reported in rare cases of myelodysplastic syndrome (MDS), with an incidence of 0.4–1.57 % [1, 2]. It is considered as a rare cytogenetic finding in myelofibrosis since it is found in less than 2 % of cases of myelofibrosis with myeloid metaplasia [3]. Diagnosis of primary myelofibrosis (PMF) is based on a combination of clinical, morphological, cytogenetic and molecular features. Therapeutic approaches to PMF should be based on the specific clinical features and risk stratification of each patient. JAK2 inhibitors showed recently significant improvement in patients with myelofibrosis [4]. The aim of this report is to present the first, according to our knowledge, case of PMF that evolved into AML with i(17)(q10) associated with basophilia while treated for 1 year with JAK2 inhibitor with a significant response. A female patient was diagnosed with PMF, International Prognostic Scoring System (IPSS) low risk, in July 2010. Bone marrow biopsy revealed 3 % blasts and fibrosis deposits (MF=grades 2–3, scale Thiele), and PCR analysis revealed JAK2 V617F mutation. She was transfusion independent. One year later, she developed anaemia and gradually spleen enlargement. She remains transfusion independent without constitutional symptoms. CGH-UPD array revealed a meaningless possible amplification segment (15q11.2), without any other karyotypic abnormalities. Chromosome 17 was normal. At the beginning of 2012, she became transfusion dependent and complained for easy tiredness and fatigue. Erythropoietin was insufficient to keep haemoglobin stable, and interferon was proved intolerant. Re-evaluation, in June 2012, of the disease showed 3 % blasts on the peripheral blood smear, anaemia, neutropenia without basophilia or eosinophilia and palpable spleen 14 cm below the left costal margin. She was scored as high risk according to IPSS. Since she had no sibling matched donors, the patient agreed to start therapy with JAK2 inhibitor, in July 2012. Initially, the spleen rapidly decreased in volume. Then, it was slightly increased and remained stable and 5 cm below left costal margin. The therapy was adjusted due to progressive thrombocytopenia, but generally, it was well tolerated. The patient stayed transfusion dependent with objective improvement of constitutional symptoms. In September 2013, the patient presented with 11 % myeloblasts in the periphery and basophilic predominance of 19 % of total cells. Aspiration of bone marrow revealed hypocellular marrow with dysplastic features including both hypoand hyper-segmented cells of myeloid lineage and basophilic predominance. Myeloid progenitors were 14.9 % of the total cells. Cytogenetics analysis showed progression with 46XX,i(17)(q10) in the half of the examined 20 metaphases. FISH for TP53 was normal. The patient was immediately scheduled for unrelated stem cell transplantation. She died during the aplasia after the first induction therapy with invasive fungaemia due to Geotrichum species. Isochromosome 17q10 can occur as either a primary or secondary cytogenetic abnormality and is usually a part of a * N. Neokleous nneokleous@yahoo.gr |
| تدمد: | 1432-0584 0939-5555 |
| DOI: | 10.1007/s00277-015-2380-5 |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_________::a9ed835544e3f7022f9fadde4bebf666 https://doi.org/10.1007/s00277-015-2380-5 |
| Rights: | CLOSED |
| رقم الانضمام: | edsair.doi...........a9ed835544e3f7022f9fadde4bebf666 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 14320584 09395555 |
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| DOI: | 10.1007/s00277-015-2380-5 |