Efficacy of ruxolitinib in a patient with myelodysplastic/myeloproliferative neoplasm unclassifiable and co-mutated JAK2, SF3B1 and TP53. (2020)

• Record Type: Journal Article
• Authors: Wang, Qian; Dai, Hai-ping; Liu, Dan-dan; Xie, Jun-dan; Yao, Hong; Ding, Zi-xuan; Tao, Ting-ting; Chen, Su-ning; Zhang, Ri
• Is Part Of: Leukemia research reports. Volume 14(2020)
• Publication Date: 2020
• Subjects: Myelodysplastic/myeloproliferative neoplasm-unclassifiable -- Ruxolitinib; Leukemia -- Periodicals; Lymphomas -- Periodicals; Multiple myeloma -- Periodicals; Leukemia -- Periodicals; Lymphoma -- Periodicals; Multiple Myeloma -- Periodicals; Hematologic Neoplasms -- Periodicals; Leukemia; Lymphomas; Multiple myeloma; Electronic journals; Periodicals; 616.9941905
• DOI: 10.1016/j.lrr.2020.100229
• Languages: English
• ISSNs: 2213-0489

Abstract

Abstract: Myelodysplastic/myeloproliferative neoplasm, unclassifiable (MDS/MPN-U) is a rare but heterogeneous subtype of MDS/MPN, with no specific genetic alterations and standard treatments. ASXL1, SRSF2, TET2, JAK2 and NRAS are commonly mutated in MDS/MPN-U. Double gene mutations could be detected in MDS/MPN-U, however, co-mutations of 3 and more genes in this disease entity are very rare. Here, we present a case of MDS/MPN-U with triple mutations involving JAK2, SF3B1, and TP53 . After failure of traditional therapy including hydroxyurea and interferon-α, the patient received ruxolitinib monotherapy and achieved hematological response quickly. Though mutations in TP53 implied a poor prognosis in myeloid malignancies, this patient has maintained no AML transformation for 26 months since diagnosis. Further research on complex mutations in the pathogenesis and prognosis of MDS/MPN-U is warranted.