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Coexistence of deletion, ring, and monosomy of chromosome 7 in a patient with MDS-RAEB-2 [Eastern J Med]
Eastern J Med. 2018; 23(4): 328-331 | DOI: 10.5505/ejm.2018.65487  

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

Cigdem Aydin1, Orhan Kemal Yucel2, Ozan Salim2, Levent Undar2, Bahar Akkaya3, Sibel Berker Karauzum4
1Mehmet Akif Ersoy University, Bucak School of Health, Department of Nursing, Burdur, Turkey
2Akdeniz University, Faculty of Medicine, Department of Hematology, Antalya, Turkey
3Akdeniz University, Faculty of Medicine, Department of Pathology, Antalya, Turkey
4Akdeniz University, Faculty of Medicine, Department of Medical Biology And Genetics, Antalya, Turkey

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 the liver at the second month of the transplantation. Herein, we report a first case of MDS having the three abnormalities; ring 7, derivative 7; due to p and q arm deletion on the chromosome 7 and monosomy 7.

Keywords: Myelodysplastic syndromes, ring chromosome 7, monosomy 7


Cigdem Aydin, Orhan Kemal Yucel, Ozan Salim, Levent Undar, Bahar Akkaya, Sibel Berker Karauzum. Coexistence of deletion, ring, and monosomy of chromosome 7 in a patient with MDS-RAEB-2. Eastern J Med. 2018; 23(4): 328-331

Corresponding Author: Sibel Berker Karauzum, Türkiye


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