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1/155. Congenital erythroleukemia in a neonate with severe hypoxic ischemic encephalopathy.

    We report a case of a neonate who presented with hypoxic ischemic encephalopathy, persistent hypoglycemia and hypotension, intractable metabolic acidosis, renal failure and a coagulopathy but who, at autopsy, was found to have massive infiltration of nonhematopoietic tissues with blasts. The diagnosis of congenital erythroleukemia was confirmed by the detection of glycophorin A, a major erythrocyte membrane protein, on the surface of the blasts. The clinical presentation and course of the case described here have not previously been reported for this extremely rare condition. ( info)

2/155. Derivative (1;7)(q10;p10) in a patient with de novo acute erythroblastic leukemia (AML-M6).

    A rare association of der(1;7)(q10;p10) with de novo acute erythroblastic leukemia (AML-M6) in a 63-year-old male is reported. While this unbalanced 1;7 translocation, der(1;7), has been reported often in therapy-related myelodysplastic syndrome (t-MDS) or therapy-related acute myeloid leukemia (t-AML), its associations with de novo AML-FAB-M6 have rarely been reported. Although der(1;7) has been reported as a cytogenetic factor for poor prognosis in t-MDS/AML, our patient showed a good response to chemotherapy and obtained complete remission, although longer observation is required to evaluate the prognosis. ( info)

3/155. G banding analysis of complex aneuploidy in a case of erythroleukaemia.

    The chromosomal abnormalities in bone marrow cells from a patient with erythroleukaemia are reported. The complicated pattern of aneuploidy includes 5 marker chromosomes originating from rcp (1;3), t(8;11), t(X;X) and del(7). ( info)

4/155. Isochromosome 17 in a case of chronic erythroleukaemia.

    In a patient with chronic erythroleukaemia in isochromosome 17q was identified in all bone marrow metaphases analyzed. In addition, these cells were characterized by hypodiploidy and the presence of 3 different marker chromosomes. Approximately 50% of dividing cells in the marrow were bizarre-looking polyploids. The identification by Giemsa banding of i(17q) in this case of erythroleukaemia supports the concept that there are common cytogenetic characteristics among malignant myeloproliferative disorders. ( info)

5/155. Acute erythroid leukemia after cyclophosphamide therapy for multiple myeloma: report of two cases.

    The diagnosis of multiple myeloma was made in two white men, aged 55 and 59 years. They were treated with cyclophosphamide for 98 and 44 months respectively. Patient 1 also received a nine-month course of combined therapy with melphalan, procarbazine, and prednisone. Both developed acute erythroid leukemia, 98 and 71 months after the original diagnosis of myeloma, and died of subarachnoid hemorrhage and cardiac arrest. Patient 1 developed squamous cell carcinoma of the skin with recurrence, and Patient 2 developed anaplastic carcinoma of the urinary bladder. Palliative radiation therapy was given. The development of erythroid leukemia plus carcinoma in these two men suggests mutagenic change secondary to cyclophosphamide therapy. ( info)

6/155. Erythroleukemia-like syndrome due to busulfan toxicity in polycythemia vera.

    Over a 19-year period, a patient with polycythemia vera who had undergone a splenectomy received six courses of busulfan for recurrent thrombocytosis. The total dose of busulfan given for the sixth course was greater than that used for the previous ones. Severe pancytopenia followed, which persisted for 4 months. During this period there was marked erythroid hyperplasia in the bone marrow with striking dyserythropoiesis; PAS-positive red cell precursors, as well as moderate numbers of circulating normoblasts and evidence of chronic and acute hemolysis, were present. All of these findings reverted to normal without therapy, and the polycythemic state eventually recurred. These events are interpreted as an unusual marrow reaction following busulfan overdosage rather than a transient erythroleukemia. ( info)

7/155. The morphology of dyserythropoiesis in a patient with acute erythroleukaemia associated with multiple myeloma.

    A patient with multiple myeloma in whom acute erythroleukaemia developed 5 years following treatment with irradiation and melphalan is reported. Immunoglobulin synthesis and immunofluorescence investigations provided evidence that the blast cells in the peripheral blood did not belong to the plasma cell series; ultrastructure examination demonstrated their myeloid origin. Chromosomally abnormal cells were observed in both the bone marrow and peripheral blood. light-and electron microscopy of erythropoiesis in this case showed distinct features of dyserythropoiesis, similar to those described in other entities. The erythroid cell abnormalities are discussed in the light of their being either indications of malignancy or of a reactive process. ( info)

8/155. Refractory anemia with ringed sideroblasts with a low IPSS score progressed rapidly with de novo appearance of multiple karyotypic abnormalities and into acute erythroleukemia (AML-M6A).

    We report here a case of refractory anemia with ringed sideroblasts (RARS) with a low risk group by the International Prognostic Scoring System (IPSS) at the time of diagnosis but had a rapid disease progression. Although the patient showed a normal male karyotype at the time of RARS diagnosis, his marrow cells had del(5)(q14) and add(17)(p12) abnormalities 2 months after the diagnosis, and later the marrow cells had multiple abnormalities and the patient expired 6 months after the initial diagnosis of RARS. The patient was diagnosed as having RARS with a low risk group by the IPSS classification, however, one should keep in mind that some patients with myelodysplastic syndromes with low risks by either the French-American-British (FAB) classification or the IPSS classification may have progressive disease and subsequential cytogenetic analysis could predict the disease progression. ( info)

9/155. Sweet's syndrome and pneumocystis carinii pneumonia: two sequelae of low-dose cytosine arabinoside therapy in a patient with acute myeloid leukemia.

    cytosine arabinoside in low dose is sometimes employed for treating acute myeloid leukaemia. We report here a case of acute myeloid leukemia, treated with low-dose cytosine arabinoside, who developed acute febrile neutrophilic dermatosis and pneumocystis carinii pneumonia after attainment of remission. A direct effect of cytosine arabinoside on neutrophil function and an immunosuppressive potential in lower doses could be speculated. ( info)

10/155. Triple philadelphia chromosomes with major-bcr rearrangement in hypotriploid erythroleukaemia.

    The philadelphia (Ph) chromosome is observed in approximately 1% of patients with acute myeloblastic leukaemia (AML), especially subtypes M1 and M2 in the French-American-British classification. We describe here a cytogenetic and molecular investigation of a rare case with Ph-positive AML M6 (erythroleukaemia). A 63-yr-old woman was diagnosed as having erythroleukaemia. Leukaemic cells were positive for CD4 and CD7 as well as CD13, CD33, CD34 and HLA-DR. They were analyzed by G-banding, fluorescence in situ hybridization (FISH), Southern blot and reverse transcriptase polymerase chain reaction analyses. The karyotypes at diagnosis were as follows: 61, XX, -X, -1, -2, -3, -4, -5, -7, t(9;22)(q34;q11)x 2, -15, -16, -17, -18, 19, 21, 22 [3]/61, idem, -22, der(22)t(9;22) [36]. FISH with BCR/ABL probes showed that 39% and 57% of interphase nuclei had double and triple BCR/ABL fusion signals, respectively. Chromosome analysis in complete remission showed a normal karyotype in all 20 metaphases, confirming the diagnosis as Ph positive-acute leukaemia. FISH at relapse showed that 92% of interphase nuclei had triple fusion signals. Rearrangement of major breakpoint cluster region (M-bcr) in the BCR gene and coexpression of p210-type (b2a2) and p190-type (e1a2) BCR/ABL fusion transcripts due to alternative splicing were also detected. We conclude that clonal evolution from double to triple Ph chromosomes may be implicated in the disease progression. Considering other two reported cases, Ph-positive erythroleukaemia appears to be correlated with coexpression of myeloid/T-lymphoid markers and hyperdiploidy with double or triple Ph chromosomes, although breakpoints in the BCR gene are heterogenous. ( info)
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