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Successful allogeneic hematopoietic stem cell transplantation for myelodysplastic neoplasms complicated with secondary pulmonary alveolar proteinosis and Behçet's disease harboring GATA2 mutation

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Abstract

Myelodysplastic neoplasms (MDS) are defined by cytopenia and morphologic dysplasia originating from clonal hematopoiesis. They are also frequently complicated with diseases caused by immune dysfunction, such as Behçet's disease (BD) and secondary pulmonary alveolar proteinosis (sPAP). MDS with both BD and sPAP is extremely rare, and their prognosis is poor. In addition, haploinsufficiency of the hematopoietic transcription factor gene GATA2 is recognized as a cause of familial MDS and is frequently complicated by sPAP. Herein, we report a case of MDS combined with both BD and sPAP in association with GATA2 deficiency in a Japanese woman. Because she developed progressive leukopenia and macrocytic anemia during BD treatment at the age of 61, she underwent a bone-marrow examination and was diagnosed with MDS. She subsequently developed sPAP. At the age of 63, she underwent allogeneic hematopoietic stem cell transplantation (allo-HSCT). Since allo-HSCT, she has maintained complete remission of MDS as well as the symptoms of BD and sPAP. Furthermore, we performed whole exome sequencing and identified the GATA2 Ala164Thr germline mutation. These findings suggest that patients with MDS, BD and sPAP should be considered for early allo-HSCT.

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Data availability statement

WES analysis data were deposited in the JGA database (accession number JGAS000584).

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Acknowledgements

This work was supported by a Grant-in-Aid for Scientific Research (C) from the Japan Society for the Promotion of Science (to D.K.), a grant from the Takeda Science Foundation (to D.K.) and The Uehara Memorial Foundation (to T.I.)

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Authors and Affiliations

  1. Department of Hematology, Fukushima Medical University, Fukushima, Fukushima, 960-1295, Japan

    Yuki Sato, Masahiko Fukatsu, Naomi Asano, Koichiro Fukuchi, Hirotaka Mori, Motoki Takano, Kiyohito Hayashi, Hiroshi Takahashi, Kayo Shirado-Harada, Satoshi Kimura, Daisuke Koyama & Takayuki Ikezoe

  2. Department of Gastroenterology, Fukushima Rosai Hospital, Iwaki, Fukushima, 973-8403, Japan

    Tomohiro Suzuki

  3. Department of Rheumatology, Fukushima Rosai Hospital, Iwaki, Fukushima, 973-8403, Japan

    Tomomi Sasajima

  4. Department of Gastroenterology, Fukushima Medical University, Fukushima, Fukushima, 960-1295, Japan

    Naohiko Gunji

  5. Department of Rheumatology, Fukushima Medical University, Fukushima, Fukushima, 960-1295, Japan

    Shuhei Yoshida & Kiyoshi Migita

Authors
  1. Yuki Sato
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  2. Masahiko Fukatsu
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  17. Takayuki Ikezoe
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Correspondence to Daisuke Koyama.

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Sato, Y., Fukatsu, M., Suzuki, T. et al. Successful allogeneic hematopoietic stem cell transplantation for myelodysplastic neoplasms complicated with secondary pulmonary alveolar proteinosis and Behçet's disease harboring GATA2 mutation. Int J Hematol 118, 642–646 (2023). https://doi.org/10.1007/s12185-023-03603-0

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  • DOI: https://doi.org/10.1007/s12185-023-03603-0

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