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09.06.2020 | Case Report

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

verfasst von: Akifumi Nozawa, Michio Ozeki, Shiho Yasue, Saori Endo, Tomonori Kadowaki, Hidenori Ohnishi, Hideki Muramatsu, Asahito Hama, Yoshiyuki Takahashi, Seiji Kojima, Toshiyuki Fukao

Erschienen in: International Journal of Hematology | Ausgabe 5/2020

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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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Metadaten
Titel
Myelodysplastic syndromes in a pediatric patient with Cri du Chat syndrome with a ring chromosome 5
verfasst von
Akifumi Nozawa
Michio Ozeki
Shiho Yasue
Saori Endo
Tomonori Kadowaki
Hidenori Ohnishi
Hideki Muramatsu
Asahito Hama
Yoshiyuki Takahashi
Seiji Kojima
Toshiyuki Fukao
Publikationsdatum
09.06.2020
Verlag
Springer Singapore
Erschienen in
International Journal of Hematology / Ausgabe 5/2020
Print ISSN: 0925-5710
Elektronische ISSN: 1865-3774
DOI
https://doi.org/10.1007/s12185-020-02909-7

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