kjh The Korean Journal of Hematology Korean J Hematol 1738-7949 2092-9129 Korean Society of Hematology 10.5045/kjh.2007.42.1.43 kjh-42-43 Case Report A Case of Myelodysplastic Syndrome Associated with an Isolated del(5q) Chromosomal Abnormality Showing Poor Prognosis ChungHee-JungM.D. ParkChan-JeoungM.D. ChiHyun-SookM.D. JangSeongsooM.D. SeoEul JuM.D. LeeJe-HwanM.D. 1 Departments of Laboratory Medicine, Seoul, Korea Internal Medicine, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea Correspondence to：Chan-Jeoung Park, M.D. Department of Laboratory Medicine, Asan Medical Center, University of Ulsan College of Medicine 388-1, Pungnap 2-dong, Songpa-gu, Seoul 138-736, Korea Tel: +82-2-3010-4508, Fax: +82-02-478-0884 E-mail: cjpark@amc.seoul.kr 032007 19032007 42143 47 10102007 03122007 21122007 Copyright © 2007 Korean Society of Hematology 2007 This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

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.

 Myelodysplastic syndromes Isolated deletion(5q) REFERENCESNimer SD Clinical management of myelodysplastic syndromes with interstitial deletion of chromosome 5q J Clin Oncol 200624 257682 Boultwood J Lewis S Wainscoat JS The 5q-syndrome Blood 199484 325360 Mathew P Tefferi A Dewald GW The 5q-syndrome: a single-institution study of 43 consecutive patients Blood 199381 10405 Pedersen B Jensen IM Clinical and prognostic implications of chromosome 5q deletions: 96 high resolution studied patients Leukemia 19915 56673 Jaffe ES Harris NL Stein H Vardiman JW Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality 1st ed. Lyon IARC Press 2001 73 Giagounidis AA Germing U Aul C Biological and prognostic significance of chromosome 5q deletions in myeloid malignancies Clin Cancer Res 200612 510 Boultwood J Fidler C Strickson AJ Transcription mapping of the 5q-syndrome critical region: Cloning of two novel genes and sequencing, expression, and mapping of a further six novel cdnas Genomics 200066 2634 Horrigan SK Arbieva ZH Xie HY Delineation of a minimal interval and identification of 9 candidates for a tumor suppressor gene in malignant myeloid disorders on 5q31 Blood 200095 23727 Pedersen B 5q(-)survival: importance of gender and deleted 5q bands and survival analysis based on 324 published cases Leuk Lymphoma 199831 32534 Figures and Tables

The findings at the diagnosis of myelodysplastic syndrome associated with isolated del(5q). (A) Occasional microme-gakaryocytes with hypolobulated nucleus in the bone marrow aspirates (Wright stain, ×1,000). (B) Numerous mega-karyocytes of various sizes. Frequent hypolobulated micromegakaryocytes in the hypercellular bone marrow biopsy specimen (H&E stain, ×1,000).

The findings of bone marrow aspiration at the diagnosis of acute myelomonocytic leukemia with multilineage dysplasia (AML M4 according to the FAB classification). (A) Blasts with prominent nucleoli and relatively abundant cytoplasm with small vacuoles (Wright stain, ×1,000). (B) Erythroid dysplasia, including multinucleation, nuclear fragmentation, and basophilic stippling in the bone marrow aspirates (Wright stain, ×1,000).

(A) Karyotype analysis of the patient. del(5q)(q11.2q35) was observed in 18 of 20 me-taphases, indicating that the deleted region was larger than that in typical 5q deletion. (B) Ideogram of chromosome 5: break point of the patient (dotted line) and ordinary break point of MDS associated with isolated del(5q) (solid line).

Clinical and pathologic characteristics of MDS associated with isolated del(5q) and the comparison with this patient

solated del(5q) This patient
•Clinical presentation •Clinical presentation
Older age (median 68 yea rs) Old age (47 year-old)
Female predominance (7：3 female to male) Female
Refractory anemia Pancytopenia
Low risk of leukemic progression Leukemic progression
Good prognosis Poor prognosis
•Hematologic •Hematologic
presentation presentation
Macrocytic anemia Normocytic anemia
Modest leukopenia Modest leukopenia
Normal/High platelet count s Low platelet count
del(5q)(q13q33) del(5q)(q11.2q35)
BM erythroid hypoplasia No BM erythroid hypoplasia
Hypolobulated Markedly hypolobulated
megakaryocytes in BM megakaryocytes in BM
＜5% BM blast count 4.8% of BM blast count