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Cytogenetics and molecular genetics

Familial myeloid malignancies with germline TET2 mutation

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Fig. 1: Germline TET2 mutation with myeloid malignancies.

References

  1. Delhommeau F, Dupont S, Valle VD, James C, Trannoy S, Masse A, et al. Mutation in TET2 in myeloid cancers. N Engl J Med. 2009;360:2289–301.

    Article  Google Scholar 

  2. Solary E, Bernard OA, Tefferi A, Fuks F, Vainchenker W. The ten-eleven translocation-2 (TET2) gene in hematopoiesis and hematopoietic diseases. Leukemia. 2014;28:485–96.

    Article  CAS  Google Scholar 

  3. Kosmider O, Gelsi-Boyer V, Ciudad M, Racoeur C, Jooste V, Vey N, et al. TET2 gene mutation is a frequent and adverse event in chronic myelomonocytic leukemia. Haematologica. 2009;94:1676–81.

    Article  CAS  Google Scholar 

  4. Kosmider O, Gelsi-Boyer V, Cheok M, Grabar S, Della-Valle V, Picard F, et al. TET2 mutation is an independent favorable prognostic factor in myelodysplastic syndromes (MDSs). Blood. 2009;114:3285–91.

    Article  CAS  Google Scholar 

  5. Nibourel O, Kosmider O, Cheok M, Boissel N, Renneville A, Philippe N, et al. Incidence and prognostic value of TET2 alterations in de novo acute myeloid leukemia achieving complete remission. Blood. 2010;116:1132–5.

    Article  CAS  Google Scholar 

  6. Tefferi A, Pardanani A, Lim K-H, Abdel-Wahab O, Lasho TL, Patel J, et al. TET2 mutations and their clinical correlates in polycythemia vera, essential thrombocythemia and myelofibrosis. Leukemia. 2009;23:905–11.

    Article  CAS  Google Scholar 

  7. Jaiswal S, Fontanillas P, Flannick J, Manning A, Grauman PV, Mar BG, et al. Age-related clonal hematopoiesis associated with adverse outcomes. N Engl J Med. 2014;371:2488–98.

    Article  Google Scholar 

  8. Renaud L, Nibourel O, Marceau‐Renaut A, Gruson B, Cambier N, Lionne‐Huyghe P, et al. Comprehensive molecular landscape in patients older than 80 years old diagnosed with acute myeloid leukemia: a study of the French Hauts-de-France AML observatory. Am J Hematol. 2019;94:E24–7.

    Article  Google Scholar 

  9. Kaasinen E, Kuismin O, Rajamäki K, Ristolainen H, Aavikko M, Kondelin J, et al. Impact of constitutional TET2 haploinsufficiency on molecular and clinical phenotype in humans. Nat Commun. 2019;10:1252.

    Article  Google Scholar 

  10. Schaub FX, Looser R, Li S, Hao-Shen H, Lehmann T, Tichelli A, et al. Clonal analysis of TET2 and JAK2 mutations suggests that TET2 can be a late event in the progression of myeloproliferative neoplasms. Blood. 2010;115:2003–7.

    Article  CAS  Google Scholar 

  11. Selimoglu-Buet D, Wagner-Ballon O, Saada V, Bardet V, Itzykson R, Bencheikh L, et al. Characteristic repartition of monocyte subsets as a diagnostic signature of chronic myelomonocytic leukemia. Blood. 2015;125:3618–26.

  12. Lorsbach RB, Moore J, Mathew S, Raimondi SC, Mukatira ST, Downing JR. TET1, a member of a novel protein family, is fused to MLL in acute myeloid leukemia containing the t(10;11)(q22;q23). Leukemia. 2003;17:637–41.

    Article  CAS  Google Scholar 

  13. Pozdeyev N, Gay LM, Sokol ES, Hartmaier R, Deaver KE, Davis S, et al. Genetic analysis of 779 advanced differentiated and anaplastic thyroid cancers. Clin Cancer Res. 2018;24:3059–68.

    Article  CAS  Google Scholar 

  14. Duployez N, Lejeune S, Renneville A, Preudhomme C. Myelodysplastic syndromes and acute leukemia with genetic predispositions: a new challenge for hematologists. Expert Rev Hematol. 2016;9:1189–202.

    Article  CAS  Google Scholar 

  15. Jongen-Lavrencic M, Grob T, Hanekamp D, Kavelaars FG, al Hinai A, Zeilemaker A, et al. Molecular minimal residual disease in acute myeloid leukemia. N Engl J Med. 2018;378:1189–99.

    Article  CAS  Google Scholar 

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Acknowledgements

We thank the family members who participated in this study. We thank Christophe Roumier (Tumor Bank, certification NF 96900-2014/65453-1, Centre Hospitalier Universitaire de Lille) for handling, conditioning, and storing patient samples.

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ND, LF, AMR, and ON performed molecular studies and analyzed mutational data. TB and EF performed morphological examinations and flow cytometry. CRL performed genetic analysis. GH performed fibroblast culture. LG, CB, DB, CB, NC, and BQ provided samples and clinical data. ND and CP wrote the manuscript, which was approved by all the authors.

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Correspondence to Nicolas Duployez.

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The authors declare that they have no conflict of interest.

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Duployez, N., Goursaud, L., Fenwarth, L. et al. Familial myeloid malignancies with germline TET2 mutation. Leukemia 34, 1450–1453 (2020). https://doi.org/10.1038/s41375-019-0675-6

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