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Rinsho Ketsueki. 1996 Aug;37(8):725-30.

[Myelodysplastic syndrome with multiple chromosome aberrations in a patient with Werner's syndrome].

[Article in Japanese]

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Department of Hematology, Hoshi General Hospital, Koriyama.


An unusual case of Werner's syndrome with myelodysplastic syndrome (MDS) in a 63-year-old male is reported. He was transferred to our hospital for evaluation of pancytopenia in August 1994. He had surgery for cataracts at age 47. On admission, his weight was 39 kg and his height was 148 cm. He looked pale, had thin limbs, a bird-like face, loss of hair, a hoarse voice, and atrophic skin with ulcers. A complete blood count showed: hemoglobin 8.7 g/dl; platelet count 1.5 x 10(4)/microliters; and white blood cell count 2,900/microliters with 3% blasts. A bone marrow aspiration revealed hypercellularity with 11.8% blasts and trilineage myelodysplasia. A diagnosis of RAEB was made according to the FAB classification. Cytogenetic analysis of the bone marrow cells revealed multiple aberrations such as 44, XY, -3, -5, add (4) (q?31), add(6) (p2?), del(7) (q22), add(10) (q24), del(12) (q?), add(14) (q32), -15, -16, -17, + mar1, +mar2, +mar3. He died of pneumonia on day 11. Although approximately 700 cases (about 300 cases in Japan) of Werner's syndrome have been reported, the occurrence of hematopoietic malignancies in Werner's syndrome is rare, and the literature includes 8 cases of leukemia and 4 cases of MDS.

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