Korean J Hematol 2007; 42(1):
Published online March 30, 2007
https://doi.org/10.5045/kjh.2007.42.1.43
© The Korean Society of Hematology
정희정, 박찬정, 지현숙, 장성수, 서을주, 이제환
울산대학교 의과대학 서울아산병원 내과학
Typical myelodysplastic syndrome (MDS) associated with isolated del(5q) consists of an interstitial deletion of the band between q13 and q33 on chromosome 5. Generally, patients with isolated deletion 5q have better outcomes than those who have the deletion 5q with additional karyotypic abnormalities. Here we report a 47 year-old female with an isolated del(5q) chromosomal abnormality with an atypical breakpoint of 5q11q35 and rapid progression to acute leukemia, which had an exceptionally poor outcome. The peripheral blood revealed pancytopenia and occasional giant platelets, and the patient had hypercellular bone marrow with 4.8% blasts, as well as dysmegakaryopoiesis and dyserythropoiesis. Cytogenetically, the patient was del(5q)(q11.2q35)[18]/46,XX[2], showing that her deleted region was larger than that found for typical del 5q syndrome. Three months later, the patient presented with acute myelomonocytic leukemia with multilineage dysplasia. The cytogenetic findings were identical. Two months after allogeneic bone marrow transplantation, the patient died from severe graft-versus host disease.
Keywords Myelodysplastic syndromes, Isolated deletion(5q)
Korean J Hematol 2007; 42(1): 43-47
Published online March 30, 2007 https://doi.org/10.5045/kjh.2007.42.1.43
Copyright © The Korean Society of Hematology.
정희정, 박찬정, 지현숙, 장성수, 서을주, 이제환
울산대학교 의과대학 서울아산병원 내과학
Hee Jung Chung, Chan Jeoung Park, Hyun Sook Chi, Seong soo Jang, Eul Ju Seo, Je Hwan Lee
Departments of Laboratory Medicine and, Internal Medicine, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea
Typical myelodysplastic syndrome (MDS) associated with isolated del(5q) consists of an interstitial deletion of the band between q13 and q33 on chromosome 5. Generally, patients with isolated deletion 5q have better outcomes than those who have the deletion 5q with additional karyotypic abnormalities. Here we report a 47 year-old female with an isolated del(5q) chromosomal abnormality with an atypical breakpoint of 5q11q35 and rapid progression to acute leukemia, which had an exceptionally poor outcome. The peripheral blood revealed pancytopenia and occasional giant platelets, and the patient had hypercellular bone marrow with 4.8% blasts, as well as dysmegakaryopoiesis and dyserythropoiesis. Cytogenetically, the patient was del(5q)(q11.2q35)[18]/46,XX[2], showing that her deleted region was larger than that found for typical del 5q syndrome. Three months later, the patient presented with acute myelomonocytic leukemia with multilineage dysplasia. The cytogenetic findings were identical. Two months after allogeneic bone marrow transplantation, the patient died from severe graft-versus host disease.
Keywords: Myelodysplastic syndromes, Isolated deletion(5q)
Yoon Hwan Chang
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