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Editorial
. 2024 Aug 1;109(8):2391-2394.
doi: 10.3324/haematol.2023.284747.

SH2B3 alterations in a novel genetic condition, juvenile myelomonocytic leukemia, and myeloproliferative neoplasia

Charlotte M Niemeyer  1 , Miriam Erlacher  2
Affiliations
Editorial

SH2B3 alterations in a novel genetic condition, juvenile myelomonocytic leukemia, and myeloproliferative neoplasia

Charlotte M Niemeyer et al. Haematologica. .
No abstract available

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Figures

Figure 1.
Figure 1.
LNK and the adapter family of proteins. Top. The SH2 domain-containing adapter family shares a domain architecture with an N-terminal dimerization domain, central pleckstrin homology domain and a C-terminal Src homology 2 (SH2) domain. Bottom. LNK directly binds JAK and receptors via its SH2 domain thereby inhibiting downstream signaling (shown semi-transparently). Figure adapted from Morris et al. with permission. DD: dimerization domain; PH: pleckstrin homology; SH2: Src homology 2; LNK: lymphocyte adapter protein; JAK: Janus kinases; SOCS: suppressor of cytokine signaling; STAT: signal transducers and activators of transcription; PTP: protein tyrosine phosphatases.
See this image and copyright information in PMC

Comment on

  • Germline bi-allelic SH2B3/LNK alteration predisposes to a neonatal juvenile myelomonocytic leukemia-like disorder.
    Arfeuille C, Vial Y, Cadenet M, Caye-Eude A, Fenneteau O, Neven Q, Bonnard AA, Pizzi S, Carpentieri G, Capri Y, Girardi K, Pedace L, Macchiaiolo M, Boudhar K, Khaled MB, Chahla WA, Lutun A, Fahd M, Drunat S, Flex E, Dalle JH, Strullu M, Locatelli F, Tartaglia M, Cavé H. Arfeuille C, et al. Haematologica. 2024 Aug 1;109(8):2542-2554. doi: 10.3324/haematol.2023.283917. Haematologica. 2024. PMID: 37981895 Free PMC article.
  • LNK/SH2B3 as a novel driver in juvenile myelomonocytic leukemia.
    Wintering A, Hecht A, Meyer J, Wong EB, Hübner J, Abelson S, Feldman K, Kennedy VE, Peretz CAC, French DL, Maguire JA, Jobaliya C, Vasquez MR, Desai S, Dulman R, Nemecek E, Haines H, Hammad M, El Haddad A, Kogan SC, Abdullaev Z, Chehab FF, Tasian SK, Smith CC, Loh ML, Stieglitz E. Wintering A, et al. Haematologica. 2024 Aug 1;109(8):2533-2541. doi: 10.3324/haematol.2023.283776. Haematologica. 2024. PMID: 38152053 Free PMC article.

References

    1. Roberts I. Leukemogenesis in infants and young children with trisomy 21. Hematology Am Soc Hematol Educ Program. 2022;2022(1):1-8. - PMC - PubMed
    1. Niemeyer CM. RAS diseases in children. Haematologica. 2014;99(11):1653-1662. - PMC - PubMed
    1. Perez-Garcia A, Ambesi-Impiombato A, Hadler M, et al. Genetic loss of SH2B3 in acute lymphoblastic leukemia. Blood. 2013;122(14):2425-2432. - PMC - PubMed
    1. Blombery P, Pazhakh V, Albuquerque AS, et al. Biallelic deleterious germline SH2B3 variants cause a novel syndrome of myeloproliferation and multi-organ autoimmunity. EJHaem. 2023;4(2):463-469. - PMC - PubMed
    1. Morris R, Butler L, Perkins A, Kershaw NJ, Babon JJ. The role of LNK (SH2B3) in the regulation of JAK-STAT signalling in haematopoiesis. Pharmaceuticals (Basel). 2021;15(1):24. - PMC - PubMed

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