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Myelodysplastic syndromes in a pediatric patient with Cri du Chat syndrome with a ring chromosome 5

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Abstract

Few hematological complications have previously been reported in association with Cri du Chat syndrome (CdCS). A case of myelodysplastic syndromes (MDS) in a pediatric patient with CdCS is herein presented. A 17-year-old female with CdCS caused by ring chromosome 5 was admitted to the hospital for investigation of a 1-month history of anemia. Based on the morphological findings of bone marrow, the patient was diagnosed with refractory cytopenia with multilineage dysplasia. The risk group was classified as intermediate-1 in the International Prognostic Scoring System (IPSS), and low in the revised IPSS. Assessment by microarray comparative genomic hybridization (CGH) identified the breakpoints of ring chromosome 5 as 46,XX,r(5)(p14.3q35.3). This revealed that the 5q terminal deletion did not include the common deleted region of MDS with del(5q). Treatment with azacitidine was initiated to control disease progression and improve quality of life. At baseline, the patient had a mean transfusion requirement of 3 units/month, which decreased to 2 units/month after six cycles of azacitidine and to 1 unit/month after 10 cycles of azacitidine. Cytopenia observed in the presented case seemed irrelevant to ring chromosome 5 which is the causative cytogenetic abnormality of CdCS, and further analyses may be needed to clarify the pathogenesis.

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Acknowledgements

The authors thank Dr. Natsuko Suzui and Dr. Tatsuhiko Miyazaki of Gifu University Hospital for their helpful comments and staff of the Department of Pediatrics at Gifu University for their contributions. They thank Dr. Yusuke Okuno in Nagoya University for providing technical assistance of gene analysis. they thank Sarah Williams, PhD, and H. Nikki March, PhD, from Edanz Group (www.edanzediting.com) for editing a draft of this manuscript.

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Authors and Affiliations

  1. Department of Pediatrics, Graduate School of Medicine, Gifu University, 1-1 Yanagido, Gifu, 501-1194, Japan

    Akifumi Nozawa, Michio Ozeki, Shiho Yasue, Saori Endo, Hidenori Ohnishi & Toshiyuki Fukao

  2. Department of Pediatrics, National Hospital Organization Nagara Medical Center, Gifu, 502-8558, Japan

    Tomonori Kadowaki

  3. Department of Pediatrics, Nagoya University Graduate School of Medicine, Showa-ku, Nagoya, 466-8650, Japan

    Hideki Muramatsu, Yoshiyuki Takahashi & Seiji Kojima

  4. Department of Hematology and Oncology, Children’s Medical Center, Japanese Red Cross Nagoya First Hospital, Nakamura-ku, Nagoya, 453-8511, Japan

    Asahito Hama

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  1. Akifumi Nozawa
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  2. Michio Ozeki
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  3. Shiho Yasue
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  8. Asahito Hama
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  9. Yoshiyuki Takahashi
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  11. Toshiyuki Fukao
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Correspondence to Michio Ozeki.

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The authors have no conflicts of interest or funding to disclose.

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The authors assert that all procedures contributing to this work comply with the ethical standards of the relevant national and institutional guidelines on human experimentation (Akifumi Nozawa, Michio Ozeki, Shiho Yasue, Saori Endo, Tomonori Kadowaki, Hidenori Ohnishi, Hideki Muramatsu, Asahito Hama, Yoshiyuki Takahashi, Seiji Kojima, and Toshiyuki Fukao) and with the Helsinki Declaration of 1975, as revised in 2008.

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Nozawa, A., Ozeki, M., Yasue, S. et al. Myelodysplastic syndromes in a pediatric patient with Cri du Chat syndrome with a ring chromosome 5. Int J Hematol 112, 728–733 (2020). https://doi.org/10.1007/s12185-020-02909-7

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  • DOI: https://doi.org/10.1007/s12185-020-02909-7

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