Summary:We report an unusual case of AML, in which the patient showed extramedullary relapse in the pleural fluid and the skin without bone marrow recurrence even 3 years after allogeneic BMT. On examination of the pleural effusion and the skin, which relapsed 31 months and 40 months, respectively, after BMT, we found that most of cells were as the XY-type recipient by quantitative X/Y FISH (fluorescence in situ hybridization). However, 100% of the bone marrow cells remained XX-type donor cells. In the present case, we believe that the graft-versus-leukemia (GVL) response in the extramedullary site was not so effective as that in the bone marrow, where it remains effective. Bone Marrow Transplantation (2002) 30, 57-59. doi: 10.1038/sj.bmt.1703572 Keywords: extramedullary relapse; allogeneic BMT; quantitative X/Y FISH Extramedullary relapse is a recurrence of leukemia in sites other than the bone marrow. It is known to recur 'isolated' without recurrence in the bone marrow. Since the introduction of bone marrow transplantation (BMT) for the treatment of leukemia, extramedullary relapse is often reported after allogeneic BMT in patients with acute myeloid leukemia (AML). The frequent sites of recurrence are the central nervous system (CNS) and the skin (in the form of leukemia cutis), although it rarely occurs in other sites. However, isolated extramedullary relapse is especially rare without recurrence in bone marrow. 1 We report an unusual case of extramedullary relapse in the pleura and the skin, with no evidence of bone marrow recurrence at death, some 40 months after allogeneic BMT. Case reportThe patient was a 41-year-old man having no special past medical history. At the time of hospitalization, the patient appeared chronically ill with a blood pressure of 110/80 mmHg, a pulse rate of 120/min, a respiration rate of 22/min and a body temperature of 37.5°C. He had slightly pale conjunctivae and palpable liver and spleen (each 4 cm). A blood cell count revealed a hemoglobin level of 10.8 g/dl, the white blood cell count was 58.2 ϫ 10 9 /l and the number of platelets was 30 ϫ 10 9 /l. Large myeloblasts with relatively large N/C (nuclear/cytoplasmic) ratio were present at up to 61% in the differential count of peripheral blood cells. Bone marrow sections showed a cellularity of nearly 100% and a diffuse infiltration of myeloblasts. The blasts accounted for up to 46% of the bone marrow nucleated cells and were positive for CD33, CD13, HLA-DR, CD7 and CD34 by flow cytometry (FACScan; Becton Dickinson, San Jose, CA, USA). BCR/ABL and PML/RARA rearrangement by RT-PCR were negative. Conventional cytogenetics revealed a normal karyotype of 46,XY [20]. A diagnosis of FAB classification, M2 was made (Table 1).After induction chemotherapy, the patient showed complete remission and underwent bone marrow transplantation from his HLA-identical sister. The conditioning regimen used was busulfan and cyclophosphamide. The patient was treated with prednisolone and cyclosporin due to chronic graft-versus-host disease (GVHD) acc...
We report a case of myelodysplastic syndrome (MDS), associated with prominent elliptocytosis. A 66-year-old male presented with peripheral pancytopenia, and was diagnosed with MDS [refractory anaemia (RA)]. Apart from marked elliptocytosis, dyshaematopoietic features were not evident in his peripheral blood or hypercellular bone marrow. After 18 months, he had progressed to RA with excess blasts in transformation. Analysis of red blood cell membrane proteins by sodium dodecyl sulphate-polyacrylamide gel electrophoresis (SDS-PAGE) showed a reduced quantity of protein 4.1 (30% of control). Deletion of chromosome 20q was identified by conventional cytogenetic analysis and fluorescence in situ hybridization. Marked elliptocytosis, persistent for more than 17 months, decreased strikingly after chemotherapy with idarubicin and Ara-C. These findings suggest that acquired elliptocytosis occurred as an unusual morphological feature of MDS, associated with abnormalities of protein 4.1 and chromosome 20q.
A statistical analysis was made on 19,140 primary malignant tumors histopathologically diagnosed at Seoul National University Hospital during 9 year period from 1978 to 1986. The study was performed to understand the recent trend of the relative frequency of the primary malignant tumors among Koreans and to compare it with the previous studies using same hospital materials, twice presented in 1968 and 1978, respectively. Sex distribution of the cases was 10,025 (52.38%) males and 9,115 (47.62%) females. Among males the frequency rank was stomach (33.88%), lung and bronchus (8.73%), leukemia (7.02%), liver (4.79%) and oral cavity (4.70%). And among females it was uterine cervix (24.48%), stomach (20.45%), thyroid (7.87%), breast (6.48%) and leukemia (4.78%). The relative frequency of malignant tumors in this study was generally similar to the previous data published in 1978 at this department, except for the fact that stomach and lung cancers were more commonly seen in both sexes during this study period than the previous periods of years.
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