1/62. Transient leukemia with extreme basophilia in a phenotypically normal infant with blast cells containing a pseudodiploid clone, 46,XY i(21)(q10).PURPOSE: Transient leukemia and extreme basophilia occurred in a phenotypically normal newborn with expression of isochromosome (21)(q10) in the blast population. patients AND methods: A newborn boy was found to have an elevated white blood cell count of 120,800 with 33% blasts. The peripheral blood also contained elevated numbers of basophils and neutrophils with unusual staining properties. The blasts, evaluated by flow cytometry and light and electron microscopy, had the properties of megakaryoblasts. Cytogenetic studies revealed 46,XY karyotype in peripheral blood lymphocytes; however, analysis of the blast cells from the bone marrow showed an abnormal chromosome 21. RESULTS: The blast cells in the peripheral blood disappeared by day 42 without chemotherapy. The red blood cell count and platelet count normalized by 2 months. Chromosomal analysis of skin fibroblasts and bone marrow after the disappearance of the blast cells in the peripheral blood showed a 46,XY phenotype. CONCLUSIONS: The leukemic cell of transient leukemia has the potential of forming cells of basophil and megakaryocyte lineages. trisomy of the q arm of chromosome 21 contains sufficient genetic information for the development of transient leukemia in a phenotypically normal newborn.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
2/62. Clinical outcome in three patients with myelodysplastic syndrome showing polyclonal hematopoiesis.The clinical outcome of 3 myelodysplastic syndrome (MDS) patients with polyclonal hematopoiesis is reported. All patients were heterozygous for the phosphoglycerate kinase (PGK) gene. The presence of polyclonal hematopoiesis was determined by the X-chromosome-linked restriction fragment length polymorphism-methylation method using the PGK gene as a marker. The patients were initially diagnosed as having refractory anemia (RA), RA with ring sideroblasts (RARS), and RA with an excess of blasts (RAEB), respectively. Their pancytopenia persisted during the follow-up period of 11.4 years for the RA patient, 19.5 years for the RARS patient and 0.8 years for the RAEB patient. Although the RARS patient continues to be in good health, leukemic transformation occurred in the other 2 patients. A karyotype change from 46,XX to 45,XX,t(3;21),-7 was observed at the time of disease progression in the RA patient. The coexistence of a monoclonal MDS clone and normal bone marrow cells is thought to be the most probable reason for the polyclonal hematopoiesis of these patients.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
3/62. 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) |
4/62. Karyotypic abnormalities and clinical aspects of patients with multiple myeloma and related paraproteinemic disorders.Karyotypic abnormalities were detected in the malignant cells of 6 of 18 patients with multiple myeloma (MM). Six patients with benign monoclonal gammopathy, one with amyloidosis of immunoglobulin origin, and two with Waldenstrom's macroglobulinemia had normal karyotypes. All six MM patients with aneuploidy were in a group of 10 patients in an accelerated or relapse phase of their disease and four had high serum paraprotein levels (7.92, 6.24, 6.80, and 4.24 g/dl, respectively) when their abnormal karyotypes were detected. Five of the 6 MM patients with aneuploidy had received prior chemotherapy. aneuploidy was not observed in 8 stable MM patients. Abnormalities of chromosome 14 were present in all 6 patients, with a 14q marker in 5 and loss of No. 14 in 1. A translocation between Nos. 11 and 14 was found in aneuploid cells of 2 patients who had plasma cell leukemia (PCL). However, the break point in the long arm of No. 11 differed in the 2 patients. A gain of Nos. 5, 9, and 11 was seen in 3 patients, a gain of No 1 in 2, and rearrangements of No. 1 in 5 MM patients, including all 4 who had a 14q marker chromosome initially. A deletion of chromosome 6 at band q25 was detected in 2 MM patients and a pericentric inversion of No. 6 (6p21 to 6q13) was seen in the patient with PCL. Three of 4 MM patients had a nonrandom loss of one chromosome 8. Two other MM patients, who were treated with melphalan and prednisone, developed acute nonlymphocytic leukemia (ANLL) 2 and 4 years after the diagnosis of MM. Marrow cells of one patient showed a 5q- chromosome and a constitutional translocation involving Nos. 13 and 14 during the preleukemic stage; during the leukemic phase, the karyotype evolved to 50 chromosomes including extra chromosomes 1, 6, 8, 10, and 21 and a missing 7, in addition to the originally detected 5q- and the 13/14 translocation. The peripheral blood from the other patient was hypodiploid, with a missing chromosome 7 and a translocation between 3q and 9p. These patterns of chromosome change resemble those of ANLL rather than MM and are similar to the changes seen in ANLL after treated malignant lymphoma.- - - - - - - - - - ranking = 16.755167425548keywords = abnormal karyotype, karyotype (Clic here for more details about this article) |
5/62. Abnormalities of chromosome 1 in myeloproliferative disorders.Three patients with myeloproliferative disorders showed a similar chromosome abnormality, accompanied by other abnormalities that were different in each case. Marrow cells from all three patients were trisomic either for the entire chromosome 1 or for its long arm. Patient 1 had a brief period of anemia and thrombocytopenia which preceded a terminal acute leukemia; Patient 2 had polycythemia vera (P.V.) that terminated in acute leukemia; and Patient 3 has P.V. The detection of an abnormal karyotype in patients 1 and 2 was an important factor in establishing the diagnosis of acute leukemia. Preliminary evidence supports the suggestion that some chromosomal changes are nonrandom in myeloproliferative diseases. Nonrandom abnormalities involving the same chromosome have been observed in several human neoplastic disorders.- - - - - - - - - - ranking = 14.755167425548keywords = abnormal karyotype, karyotype (Clic here for more details about this article) |
6/62. Multiple telomeric aberrations in a telomerase-positive leukemia patient.Bone marrow samples from a pancytopenia/leukemia patient were routinely analyzed at first and second admission. At the first presentation, the karyotype was normal, whereas 17 months later several chromosome aberrations were recognized including presumed additions to the short arms of chromosomes 1 and 16 in all cells, and numerous other aberrations in subpopulations of cells. From the predominance of aberrations at chromosome ends, we suspected insufficient telomere maintenance as an underlying mechanism behind the karyotype changes, in particular as an interstitial deletion in the region harboring the gene for the rna component (hTERC) of the telomerase enzyme was also noticed; however, while molecular cytogenetic investigation confirmed the terminal aberrations, we found the malignant cells positive for telomerase activity and the presence of an hTERC gene on both chromosomes 3. A presumed chromosome 1 addition turned out to reflect an amplification of a tandemly repeated sequence element. Labeling of multiple tandem repeat sequences in situ by a novel multicolor primed in situ hybridization showed no evidence of instability of other repeated dna elements.- - - - - - - - - - ranking = 2keywords = karyotype (Clic here for more details about this article) |
7/62. del11(p11-13) with overexpression of Wilms' tumor gene during leukemic transformation of myelodysplastic syndrome.We report a case of leukemic transformation from myelodysplastic syndrome (MDS) with a sole chromosome abnormality of del11(p11-13). The patient had been diagnosed as having MDS (refractory anemia with excess of blast cells, RAEB) in May 1998. At that time, cytogenetic analysis of bone marrow cells showed a normal karyotype. The patient received sequential chemotherapy with low-dose cytosine arabinoside (AraC) and macrophage colony-stimulating factor (M-CSF). Complete remission was obtained with this treatment, but the disease gradually progressed after June 1999. Cytogenetical analysis showed del11(p11-13) in 6 of 40 cells analyzed at that time, and the disease had evoluted to overt leukemia in December 1999 with a gradual increase in the abnormal clone. Furthermore, mRNA of the WT1 gene located at chromosome 11p13 was overexpressed during leukemic transformation, whereas it was not detected at the time of the initial diagnosis of MDS (RAEB) in May 1998. It was thought that this chromosome deletion and overexpression of WT1 resulted in the leukemic transformation in this patient. This is the first case report of del11(p11-13) being considered to be the primary cause of leukemic transformation from MDS.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
8/62. Mantle cell lymphoma with 8q24 chromosomal abnormalities: a report of 5 cases with blastoid features.The t(11;14)(q13;q32) resulting in cyclin d1 overexpression is consistently present in mantle cell lymphoma. However secondary chromosomal aberrations are also extremely common. Of these, 8q24 abnormalities associated with the t(11;14) are rare. Over the course of 10 years at M.D. Anderson Cancer Center, we identified five cases of mantle cell lymphoma in which conventional cytogenetic analysis revealed complex karyotypes, including the t(11;14) and 8q24 abnormalities: one with t(8;14)(q24;q32), one with t(2;8)(q13;q24), and three with add(8)(q24). We performed fluorescence in situ hybridization (FISH) studies on all cases. In the case with the t(8;14), IgH/myc fusion signals were identified, and in the case with the t(2;8), split c-myc signals were detected. In the three cases with add(8)(q24), one case had split c-myc signals and two cases had three copies of c-myc. Thus, the c-myc gene was involved in all cases. All five neoplasms had blastoid morphologic features, and four cases, including the cases with the t(8;14) and t(2;8), had leukemic involvement. We conclude that 8q24 abnormalities involving the c-myc gene are uncommon secondary abnormalities that occur in a subset of mantle cell lymphomas. C-myc gene abnormalities are associated with blastoid cytologic features and also may be associated with leukemic involvement.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
9/62. Leukemic manifestation in a case of alpha-chain disease with multiple polypoid intestinal lymphocytic lymphoma.We describe a female aborigine from taiwan with alpha-chain disease associated with multiple polypoid intestinal lymphocytic lymphoma and leukemic manifestation. Initially, the patient experienced intermittent diarrhea, abdominal pain, and leukemic manifestation. No evidence of bone marrow involvement was found. Alpha-chain protein was demonstrated in the serum. Gastroendoscopy and a series of radiographs of the small intestine revealed multiple polypoid tumors involving the entire length of the small intestine. Duodenal biopsy showed diffuse lymphocytic lymphoma. Immunohistochemical staining of tumor samples revealed features typical of alpha-chain disease. cytogenetic analysis showed the same abnormal karyotypes of neoplastic clones in intestinal tumor cells and in circulating leukemic cells. The data suggest that alpha-chain disease can present initially with intestinal multiple polypoid lymphocytic lymphoma and leukemic manifestation without evidence of bone marrow involvement. The data also support the homing theory of lymphomas from mucosa-associated lymphoid tissue.- - - - - - - - - - ranking = 14.755167425548keywords = abnormal karyotype, karyotype (Clic here for more details about this article) |
10/62. Biphenotypic acute leukemia: a case report.We describe an uncommon case of acute leukemia in which leukemic blasts expressed myeloid antigens and cyCD79alpha molecule. In this 49-year old male patient, two distinct blast populations were detected in peripheral blood and bone marrow samples: one of small size resembling lymphoblasts and another with pink cytoplasmic granules resembling myeloblasts. Cytochemical reaction for myeloperoxidase was negative in both cell types. Conventional cytogenetic analysis showed a normal karyotype (46 XY) in all metaphases studied, while gene rearrangement analysis by seminested PCR of the immunoglobulin heavy chain (Ig-H) and T-cell-gamma chain (TCR-gamma) receptor, showed a germline configuration of the TCR and clonal rearrangement of Ig-H chain genes. Multicolour cytofluorimetric analysis showed that bone marrow and peripheral blood blasts expressed CD19, CD79alpha bright, CD22 and terminal deoxynucleotidyl transferase (TdT) as lymphoid markers, CD13, CD117, CD15 as myeloid markers, CD34, HLA-DR as stem cell markers. CD33 myeloid antigen was expressed by 50% of the blastic population. No differences in the immunophenotypic profile were detected in the two blast populations which were identified by morphology. According to EGIL (European Group of Immunological classification of Leukemias) and WHO (world health organization) criteria, a diagnosis of biphenotypic acute leukemia (BAL) was made. The patient was treated with AML induction therapy followed by autologous stem cell transplantation, but relapse free survival was 6 months. The patient died a few weeks later due to unresponsiveness to salvage chemotherapy regimens. We conclude that patients with BAL should have a risk stratification with treatment tailored to their immunophenotype and gene rearrangement profiles.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
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