Myelodysplastic syndromes in a pediatric patient with Cri du Chat syndrome with a ring chromosome 5
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CASE REPORT
Myelodysplastic syndromes in a pediatric patient with Cri du Chat syndrome with a ring chromosome 5 Akifumi Nozawa1 · Michio Ozeki1 · Shiho Yasue1 · Saori Endo1 · Tomonori Kadowaki2 · Hidenori Ohnishi1 · Hideki Muramatsu3 · Asahito Hama4 · Yoshiyuki Takahashi3 · Seiji Kojima3 · Toshiyuki Fukao1 Received: 29 November 2019 / Revised: 12 May 2020 / Accepted: 29 May 2020 © Japanese Society of Hematology 2020
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. Keywords Pediatric hematology · Neurofibromatosis type 1 · Ring chromosome 5 · Microarray comparative genomic hybridization · Heterozygous missense mutation
Introduction Myelodysplastic syndromes (MDS) are a rare group of blood disorders that occur as a result of disordered development of blood cells within the bone marrow (BM) [1]. MDS are rare in children, accounting for less than 5% of childhood hematologic malignancies [1].
* Michio Ozeki michioo@gifu‑u.ac.jp 1
Department of Pediatrics, Graduate School of Medicine, Gifu University, 1‑1 Yanagido, Gifu 501‑1194, Japan
2
Department of Pediatrics, National Hospital Organization Nagara Medical Center, Gifu 502‑8558, Japan
3
Department of Pediatrics, Nagoya University Graduate School of Medicine, Showa‑ku, Nagoya 466‑8650, Japan
4
Department of Hematology and Oncology, Children’s Medical Center, Japanese Red Cross Nagoya First Hospital, Nakamura‑ku, Nagoya 453‑8511, Japan
In adult patients with MDS, DNA methyltransferaseinhibiting azanucleosides, such as azacitidine, are superior to optimal supportive care alone and are therefore considered the current standard of care [2]. Azacitidine is also reported to be effective in some children with MDS [3]. Cri du Chat syndrome (CdCS) is a chromosomal abnor
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