Deep sequencing reveals double mutations in cis of MPL exon 10 in myeloproliferative neoplasms
| Autor: | Daniela Pietra, Angela Brisci, Elisa Rumi, Sabrina Boggi, Chiara Elena, Alessandro Pietrelli, Roberta Bordoni, Maurizio Ferrari, Francesco Passamonti, Gianluca De Bellis, Laura Cremonesi, Mario Cazzola |
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| Jazyk: | angličtina |
| Rok vydání: | 2011 |
| Předmět: | |
| Zdroj: | Haematologica, Vol 96, Iss 4 (2011) |
| Druh dokumentu: | article |
| ISSN: | 0390-6078 1592-8721 |
| DOI: | 10.3324/haematol.2010.034793 |
| Popis: | Somatic mutations of MPL exon 10, mainly involving a W515 substitution, have been described in JAK2 (V617F)-negative patients with essential thrombocythemia and primary myelofibrosis. We used direct sequencing and high-resolution melt analysis to identify mutations of MPL exon 10 in 570 patients with myeloproliferative neoplasms, and allele specific PCR and deep sequencing to further characterize a subset of mutated patients. Somatic mutations were detected in 33 of 221 patients (15%) with JAK2 (V617F)-negative essential thrombocythemia or primary myelofibrosis. Only one patient with essential thrombocythemia carried both JAK2 (V617F) and MPL (W515L). High-resolution melt analysis identified abnormal patterns in all the MPL mutated cases, while direct sequencing did not detect the mutant MPL in one fifth of them. In 3 cases carrying double MPL mutations, deep sequencing analysis showed identical load and location in cis of the paired lesions, indicating their simultaneous occurrence on the same chromosome. |
| Databáze: | Directory of Open Access Journals |
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