1/135. Pure red cell aplasia evolving through the hyperfibrotic myelodysplastic syndrome to the acute myeloid leukemia: some pathogenetic aspects.The authors report a 58-year-old female who originally presented with acquired pure red cell aplasia (PRCA). At diagnosis, the karyotype was normal, the serum erythropoietin level was highly elevated and no T-cell mediated inhibition of erythropoiesis was demonstrated in coculture studies. Conventional immunosuppressive therapy proved ineffective. A year later a diagnosis of hyperfibrotic myelodysplastic syndrome was assessed. The sequential bone marrow examinations in the course of the three years showed a progressive increase in bone marrow fibrosis, erythroid hyperplasia and dysmegakaryocytopoiesis, terminating in the acute myeloid leukemia. This sequence of the events included the appearance of del(5)(q13q33), four years after setting a diagnosis of PRCA. The authors suggest that the absence of both cytogenetic abnormality and the signs of dyshematopoiesis at the diagnosis of PRCA does not exclude ultimately a "clonal" category of the disease. Thus, repeated hematological and cytogenetical reevaluations are recommended.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
2/135. Identification of novel chromosomal rearrangements in acute myelogenous leukemia involving loci on chromosome 2p23, 15q22 and 17q21.Chromosomal translocations are frequently linked to multiple hematological malignancies. The study of the resulting abnormal gene products has led to fundamental advances in the understanding of cancer biology. This is the first report of t(2;15)(p23;q22) and t(2;17)(p23;q21) translocations in human malignancy. Patient 1, a 73-year-old male, was diagnosed with myeloblastic (FAB M1 sub-type) AML. cytogenetic analysis showed a 47,XY,t(2;15)(p23;q22), 13 karyotype. Fluorescent in situ hybridization (FISH) showed that the PML gene was transferred intact to the short arm of chromosome 2 while the ALK gene on chromosome 2p23 was passively transferred to the long arm of chromosome 15. Patient 2 was a 60-year-old male diagnosed with monocytic (FAB M4-type) AML. cytogenetic analysis showed 46,XY,t(2;17)(p23;q21) karyotype. FISH analysis showed that neither RARalpha nor ALK were disrupted by the translocation. None of the coding region of the three genes studied were translocated in these patients. This raises the possibilities that other neighboring genes could be involved or that noncoding regulatory sequences of the studied genes could be put in contact and deregulate expression of other genes. Alternatively, displacement of ALK, RARalpha and PML to novel positions could lead to loss of their normal regulation- - - - - - - - - - ranking = 2keywords = karyotype (Clic here for more details about this article) |
3/135. Extramedullary myeloid cell tumor of the urinary bladder in a patient with myelodysplastic syndrome.We report a case of extramedullary myeloid cell tumor of the urinary bladder in an elderly male with a three year history of myelodysplastic syndrome (refractory anemia with excess blasts), noninvasive papillary transitional cell carcinoma of the urinary bladder, and in situ transitional cell carcinoma of the left ureter. light microscopy demonstrated a poorly differentiated neoplasm composed of medium to large cells with eosinophilic cytoplasm. The tumor cells showed immunohistochemical expression of myeloperoxidase, lysozyme, CD15, CD68 and CD43. bone marrow examination following cystectomy demonstrated refractory anemia with excess blasts (6-10%) and a normal karyotype. cytogenetics, approximately 1 year after cystectomy, demonstrated a deletion of the short arm of chromosome number 12. Four years after presentation, the patient succumbed to pulmonary aspergillosis.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
4/135. azathioprine-associated acute myeloid leukaemia with trilineage dysplasia and complex karyotype: a case report and review of the literature.A 66-year-old female with dermatomyositis (DM) who had received immunosuppressive therapy with azathioprine developed acute myeloid leukaemia (AML). cytogenetic analysis revealed a complex karyotype including monosomy 7, and trilineage dysplastic features strongly suggestive of a treatment-related aetiology. The literature on azathioprine-associated AML is reviewed.- - - - - - - - - - ranking = 5keywords = karyotype (Clic here for more details about this article) |
5/135. Two complex translocations in chronic granulocytic leukemia involving chromosomes 22, 9, and a third chromosome.Among 13 Ph-positive cases of chronic granulocytic leukemia (CGL), banding studies revealed two with complex rearrangements involving translocation of the long arm of number 22 to another autosome and a segment of that chromosome translocated to the long arm of number 9. In a patient with both CGL and sickle cell anemia, the 3-way rearrangement involved chromosomes 5, 9, and 22; and he also had a second philadelphia chromosome and two constitutional variants: pericentric inversion of the other number 9 chromosome and satellite polymorphism in the G group. The karyotype of the leukemic cells was interpreted as: 47,XY,inv(9) (p11q13),t(5;9;22)(q13;q34;q11) del(22)(q11). In the second patient, the complex translocation in the Ph-positive cells involved chromosomes 3, 9, and 22, resulting in a karyotype interpreted as: 46,XX,t(3;9;22)(p21;q34;q11). Several reports indicate that an abnormality of chromosome 9 is not essential for the development of Ph-positive CGL, but the very high frequency of its involvement (including these unusual translocations) suggests that some type of non-random somatic association may exist between 9q and 22q which makes simultaneous breakage likely. Attempts to correlate specific types of pH chromosome rearrangements with the clinical course of CGL must await the identification of more cases and longer follow-up.- - - - - - - - - - ranking = 2keywords = karyotype (Clic here for more details about this article) |
6/135. polycythemia rubra vera progressing to Ph1-positive chronic myelogenous leukemia.polycythemia rubra vera and chronic myelogenous leukemia are both myeloproliferative disorders and, as such, share certain clinical features. Although some myeloproliferative disorders may transform into others, conversion of polycythemia rubra vera to chronic myelogenous leukemia has been denied. We report here an elderly man with polycythemia rubra vera and a normal leukocyte alkaline phosphatase who developed chronic myelogenous leukemia with a low leukocyte alkaline phosphatase and a marrow karyotype of 45, X, Ph1-positive. In addition, we have collected evidence of two similar cases and thus conclude that, although uncommon, polycythemia rubra vera may on occasion progress to chronic myelogenous leukemia.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
7/135. Chronic myelogenous leukemia presenting in the blastic phase and its association with a 45 XO Ph1 karyotype.A 58-yr-old male patient presented in the blastic phase of chronic myelogenous leukemia (CML). Cytogenetic studies revealed a 45 XO Ph1 chromosome pattern in bone marrow cells during a short remission and again in the blastic phase of the disease. The patient expired 8 mo following diagnosis. The blastic phase of CML can stimulate acute myelogenous leukemia (AML) clinically and hematologically; CML can be differentiated by the presence of the Ph1 chromosome and the stigmata of CML. Absence of the y chromosome from the bone marrow in CML is a recently described finding. Previous reports indicating the prevention of the blastic phase in patients with this karyotype could not be confirmed by our or other recently reported cases.- - - - - - - - - - ranking = 5keywords = karyotype (Clic here for more details about this article) |
8/135. Acute minimally differentiated myeloid leukemia (M0) with inv(3)(q21q26).We describe a 55-year-old Japanese man with acute minimally differentiated myeloid leukemia (M0) with an inversion in the long arm of chromosome 3, i.e., inv(3)(q21q26). patients with this chromosomal abnormality usually show normal or elevated platelet counts. However, our case had a low platelet count with megakaryocytic dysplasia at diagnosis. Furthermore, the 3q21q26 aberration is generally detected in patients with acute myelogenous leukemia (AML) or myelodysplastic syndrome. To the best of our knowledge, it has also been reported in two cases of AML-M0 with 3q21q26 and this is the third case of AML-M0 with 3q21q26. Thus it is suggested that there is some relationship between this type of karyotype abnormality and leukemogenesis and/or thrombopoiesis.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
9/135. Carcinocythemia (carcinoma cell leukemia). An acute leukemia-like picture due to metastatic carcinoma cells.observation of a unique population of cells on a Wright-stained blood smear of a patient with metastatic breast carcinoma prompted a study to determine their origin. The primary carcinoma contained a marker, the presence of "signet cells." These were demonstrated in direct peripheral smears and buffy coat preparation of peripheral blood and confirmed histochemically by showing positive periodic acid-Schiff, alpha-napthol and beta-glucuronidase reactions. "Carcinocythemia" is suggested as a name for this unusual process observed over a six month period. Studies of the patient's immunocompetence, of circulating cell surface immunoglobulins and karyotype analysis were made. Postmortem examination revealed retroperitoneal fibrosis, splenic atrophy and extensive metastatic carcinoma but no evidence of leukemia. The cells will be contrasted to those seen in a second patient who appeared to have acute myelocytic leukemia complicating extensive cancer involving the bone marrow. The observations suggest that a leukemia-like blood picture due to circulating cancer cells may occur during the course of metastatic breast carcinoma.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
10/135. Near-tetraploid minimally differentiated acute myeloid leukemia with extensive erythrophagocytosis by leukemic blasts.Numerical change of chromosomes is common in acute myeloid leukemia (AML). However, a chromosome number as high as near-tetraploidy is very rare, especially in minimally differentiated AML (AML-M0). Erythrophagocytosis by reactive or malignant histiocytes is common in malignant hematological diseases; however, erythrophagocytosis by leukemic blasts is also very rare, especially in AML-M0. We report here the first case of AML-M0 with both of these unique characteristics: a near-tetraploid karyotype and erythrophagocytosis by leukemic blasts.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
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