Coexistence of deletion, ring, and monosomy of chromosome 7 in a patient with MDS-RAEB-2

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Aydin C., YÜCEL O. K., SALİM O., Undar L., AKKAYA B., Karauzum S. B.

Eastern Journal of Medicine, cilt.23, sa.4, ss.328-331, 2018 (Scopus) identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 23 Sayı: 4
  • Basım Tarihi: 2018
  • Doi Numarası: 10.5505/ejm.2018.65487
  • Dergi Adı: Eastern Journal of Medicine
  • Derginin Tarandığı İndeksler: Scopus, TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.328-331
  • Anahtar Kelimeler: Monosomy 7, Myelodysplastic syndromes, Ring chromosome 7
  • Akdeniz Üniversitesi Adresli: Evet

Özet

Monosomy 7 or partial deletion of chromosome 7 is a frequent cytogenetic finding in myelodysplastic syndrome (MDS). However, only a few cases of MDS with a ring chromosome 7 have been reported. We report a first case of MDS with 46,XX, der(7)del(7)(p22)del(q22)[7]/46,XX,r(7)(p22q22)[7]/46,XX[23] karyotype in a 30 year old female patient at diagnosis. The patient was diagnosed as MDS-refractory anemia excess blast type 2 (RAEB-2) (IPSS): 3, high risk). Acute myeloid leukemia (AML) induction type-chemotherapy was initiated. After second allogeneic hematopoietic stem cell transplantation, 46,XX [15] karyotype were detected in patient. She died due the acute graft versus host disease of th e liver at the second month of the transplantation. Herein, we report a first case of MDS having the three abno rmalities; ring 7, derivative 7; due to p and q arm deletion on the chromosome 7 and monosomy 7.