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ETNK1 mutation occurs in a wide spectrum of myeloid neoplasms and is not specific for atypical chronic myeloid leukemia.

Publication ,  Journal Article
Shuai, W; Zuo, Z; Li, N; Garces, S; Jelloul, FZ; Ok, CY; Li, S; Xu, J; You, MJ; Wang, W; Rehder, C; Jabbour, EJ; Patel, KP; Medeiros, LJ; Yin, CC
Published in: Cancer
March 15, 2023

BACKGROUND: ETNK1 mutation has been suggested as a useful tool to support the diagnosis of atypical chronic myeloid leukemia. ETNK1 mutations, however, occur in other myeloid neoplasms. METHODS: The authors assessed the clinicopathologic and molecular genetic features of 80 ETNK1-mutated myeloid neoplasms. RESULTS: Thirty-seven neoplasms (46%) were classified as myelodysplastic syndrome, 17 (21%) were classified as myelodysplastic/myeloproliferative neoplasm, 14 (18%) were classified as acute myeloid leukemia, and 12 (15%) were classified as myeloproliferative neoplasm. ETNK1 mutations were detected at the first test in 96% of patients, suggesting that ETNK1 mutation is an early event in pathogenesis. ETNK1 mutations represented the dominant clone in 63% of patients and was persistently dominant in 93%. The variant allele frequencies were usually higher in acute myeloid leukemia and increased upon leukemic transformation. ETNK1 mutation was accompanied by coexisting mutations in all patients, with ASXL1 (50%), TET2 (25%), EZH2 (24%), RUNX1 (24%), and SRSF2 (24%) mutations being the most common. Neoplasms with ETNK1 mutations were associated with morphologic dysplasia, increased blasts, myelofibrosis, and noncomplex karyotypes. With a median follow-up of 16.5 months, 30 patients died, 44 had persistent disease, and four achieved complete remission after stem cell transplantation. CONCLUSIONS: ETNK1 mutation is present in various myeloid neoplasms, often as an early event and a dominant clone and always with concurrent mutations. It may play an important role in the pathogenesis and progression of myeloid neoplasms by causing DNA damage and inducing other mutations and genomic instability, and it may serve as a potential therapeutic target. ETNK1 mutation is not disease-specific and should be interpreted with caution to classify myeloid neoplasms.

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Published In

Cancer

DOI

EISSN

1097-0142

Publication Date

March 15, 2023

Volume

129

Issue

6

Start / End Page

878 / 889

Location

United States

Related Subject Headings

  • Oncology & Carcinogenesis
  • Myeloproliferative Disorders
  • Myelodysplastic Syndromes
  • Mutation
  • Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative
  • Leukemia, Myeloid, Acute
  • Humans
  • 4206 Public health
  • 3211 Oncology and carcinogenesis
  • 1117 Public Health and Health Services
 

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Shuai, W., Zuo, Z., Li, N., Garces, S., Jelloul, F. Z., Ok, C. Y., … Yin, C. C. (2023). ETNK1 mutation occurs in a wide spectrum of myeloid neoplasms and is not specific for atypical chronic myeloid leukemia. Cancer, 129(6), 878–889. https://doi.org/10.1002/cncr.34616
Shuai, Wen, Zhuang Zuo, Nianyi Li, Sofia Garces, Fatima Zahra Jelloul, Chi Young Ok, Shaoying Li, et al. “ETNK1 mutation occurs in a wide spectrum of myeloid neoplasms and is not specific for atypical chronic myeloid leukemia.Cancer 129, no. 6 (March 15, 2023): 878–89. https://doi.org/10.1002/cncr.34616.
Shuai W, Zuo Z, Li N, Garces S, Jelloul FZ, Ok CY, et al. ETNK1 mutation occurs in a wide spectrum of myeloid neoplasms and is not specific for atypical chronic myeloid leukemia. Cancer. 2023 Mar 15;129(6):878–89.
Shuai, Wen, et al. “ETNK1 mutation occurs in a wide spectrum of myeloid neoplasms and is not specific for atypical chronic myeloid leukemia.Cancer, vol. 129, no. 6, Mar. 2023, pp. 878–89. Pubmed, doi:10.1002/cncr.34616.
Shuai W, Zuo Z, Li N, Garces S, Jelloul FZ, Ok CY, Li S, Xu J, You MJ, Wang W, Rehder C, Jabbour EJ, Patel KP, Medeiros LJ, Yin CC. ETNK1 mutation occurs in a wide spectrum of myeloid neoplasms and is not specific for atypical chronic myeloid leukemia. Cancer. 2023 Mar 15;129(6):878–889.
Journal cover image

Published In

Cancer

DOI

EISSN

1097-0142

Publication Date

March 15, 2023

Volume

129

Issue

6

Start / End Page

878 / 889

Location

United States

Related Subject Headings

  • Oncology & Carcinogenesis
  • Myeloproliferative Disorders
  • Myelodysplastic Syndromes
  • Mutation
  • Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative
  • Leukemia, Myeloid, Acute
  • Humans
  • 4206 Public health
  • 3211 Oncology and carcinogenesis
  • 1117 Public Health and Health Services