دورية أكاديمية
Molecular genetic tests for JAK2V617F, Exon12_JAK2 and MPLW515K/L are highly informative in the evaluation of patients suspected to have BCR-ABL1-negative myeloproliferative neoplasms.
| العنوان: | Molecular genetic tests for JAK2V617F, Exon12_JAK2 and MPLW515K/L are highly informative in the evaluation of patients suspected to have BCR-ABL1-negative myeloproliferative neoplasms. |
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| المؤلفون: | dos Santos MT; Research and Development Department, Fleury Group, , Sao Paulo, Brazil., Mitne-Neto M, Miyashiro K, Chauffaille Mde L, Rizzatti EG |
| المصدر: | Journal of clinical pathology [J Clin Pathol] 2014 Feb; Vol. 67 (2), pp. 176-8. Date of Electronic Publication: 2013 Aug 28. |
| نوع المنشور: | Journal Article; Research Support, Non-U.S. Gov't |
| اللغة: | English |
| بيانات الدورية: | Publisher: BMJ Pub. Group Country of Publication: England NLM ID: 0376601 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1472-4146 (Electronic) Linking ISSN: 00219746 NLM ISO Abbreviation: J Clin Pathol Subsets: MEDLINE |
| أسماء مطبوعة: | Publication: London : BMJ Pub. Group Original Publication: London : British Medical Association |
| مواضيع طبية MeSH: | Mutation*, Janus Kinase 2/*genetics , Myeloproliferative Disorders/*diagnosis , Myeloproliferative Disorders/*genetics , Receptors, Thrombopoietin/*genetics, Base Sequence ; DNA Mutational Analysis ; Exons/genetics ; Fusion Proteins, bcr-abl/genetics ; Humans ; Real-Time Polymerase Chain Reaction |
| مستخلص: | Polycythaemia vera (PV), essential thrombocythemia (ET) and idiopathic myelofibrosis (MF), are the most common myeloproliferative neoplasms (MPN) in patients without the BCR-ABL1 gene rearrangement. They are caused by clonal expansion of haematopoietic stem cells and share, as a diagnostic criterion, the identification of JAK2V617F mutation. Classically, when other clinical criteria are present, a JAK2V617F negative case requires the analysis of Exon12_JAK2 for the diagnosis of PV, and of MPL515K/L mutations for the diagnosis of ET and MF. Here, we evaluated 78 samples from Brazilian patients suspected to have MPN, without stratification for PV, ET or MF. We found that 28 (35.9%) are JAK2V617F carriers; from the 50 remaining samples, one (2%) showed an Exon12_JAK2 mutation, and another (2%) was positive for MPLW515L mutation. In summary, the investigation of JAK2V617F, Exon12_JAK2 and MPLW515K/L was relevant for the diagnosis of 38.4% of patients suspected to have BCR-ABL1-negative MPN, suggesting that molecular genetic tests are useful for a quick and unequivocal diagnosis of MPN. |
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| فهرسة مساهمة: | Keywords: Cancer Genetics; Haemato-Oncology; Haematopathology |
| المشرفين على المادة: | 0 (Receptors, Thrombopoietin) 143641-95-6 (MPL protein, human) EC 2.7.10.2 (Fusion Proteins, bcr-abl) EC 2.7.10.2 (JAK2 protein, human) EC 2.7.10.2 (Janus Kinase 2) |
| تواريخ الأحداث: | Date Created: 20130830 Date Completed: 20140304 Latest Revision: 20211021 |
| رمز التحديث: | 20221213 |
| مُعرف محوري في PubMed: | PMC3913116 |
| DOI: | 10.1136/jclinpath-2013-201822 |
| PMID: | 23986553 |
| قاعدة البيانات: | MEDLINE |
Full Text Finder | تدمد: | 1472-4146 |
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| DOI: | 10.1136/jclinpath-2013-201822 |