Targeted next-generation sequencing in blast phase myeloproliferative neoplasms.

Blood Advances
Terra L LashoAyalew Tefferi

Abstract

Among 248 consecutive patients with blast phase myeloproliferative neoplasm (MPN-BP), DNA collected at the time of blast transformation was available in 75 patients (median age, 66 years; 64% men). MPN-BP followed primary myelofibrosis in 39 patients, essential thrombocythemia in 20 patients, and polycythemia vera in 16 patients. A myeloid neoplasm-relevant 33-gene panel was used for next-generation sequencing. Driver mutation distribution was JAK2 57%, CALR 20%, MPL 9%, and triple-negative 13%. Sixty-four patients (85%) harbored other mutations/variants, including 37% with ≥3 mutations; most frequent were ASXL1 47%, TET2 19%, RUNX1 17%, TP53 16%, EZH2 15%, and SRSF2 13%; relative mutual exclusivity was expressed by TP53, EZH2, LNK, RUNX1, SRSF2, and NRAS/KRAS mutations. Paired chronic-blast phase sample analysis was possible in 19 patients and revealed more frequent blast phase acquisition of ASXL1, EZH2, LNK, TET2, TP53, and PTPN11 mutations/variants. In multivariable analysis, RUNX1 and PTPN11 mutations/variants were associated with shorter survival duration; respective hazard ratios (HRs) (95% confidence interval [CI]) were 2.1 (95% CI, 1.1-3.8) and 3.0 (95% CI, 1.1-6.6). An all-inclusive multivariable analysis confirmed th...Continue Reading

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Citations

Jul 25, 2018·American Journal of Hematology·Ayalew Tefferi
Oct 26, 2018·Current Hematologic Malignancy Reports·Bing LiRaajit K Rampal
Sep 25, 2019·Cold Spring Harbor Perspectives in Medicine·Anna E Marneth, Ann Mullally
Mar 21, 2020·British Journal of Haematology·Naseema Gangat, Ayalew Tefferi
May 21, 2020·Blood·Andrew J DunbarRoss Levine
Feb 2, 2019·International Journal of Hematology·Goro SashidaAtsushi Iwama
Aug 8, 2019·Current Hematologic Malignancy Reports·Zhuang ZuoC Cameron Yin
Dec 6, 2018·International Journal of Molecular Sciences·Jean-Alain MartignolesPierre Hirsch
Aug 24, 2019·Diabetes·Anabel FloresChristin Carter-Su
Nov 17, 2020·American Journal of Hematology·Ayalew Tefferi
Dec 5, 2020·Hematology·Anand A Patel, Olatoyosi Odenike
Jun 14, 2019·Cancer Discovery·Zhimin GuJian Xu
Jan 4, 2021·International Journal of Hematology·Soji MorishitaNorio Komatsu
Dec 10, 2020·OncoTargets and Therapy·Giuseppe G LoscoccoAlessandro M Vannucchi
Mar 2, 2021·Hematology/oncology Clinics of North America·Tania Jain, Raajit K Rampal
Mar 26, 2021·Best Practice & Research. Clinical Haematology·Xiaoli Wang, Ronald Hoffman
Jul 18, 2021·Clinical Lymphoma, Myeloma & Leukemia·Prithviraj Bose, Srdan Verstovsek
Aug 20, 2021·British Journal of Haematology·Nicholas C P CrossUNKNOWN A British Society for Haematology Good Practice Paper
Oct 22, 2021·Biochemical Pharmacology·Maria ReviejoJose J G Marin

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