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

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.