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Abstract
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.
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Fig. 1
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).
Fig. 2
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).
Fig. 3
(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).
Table 1.
Clinical and pathologic characteristics of MDS associated with isolated del(5q) and the comparison with this patient
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