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PubMed1992

Trisomy 2 as the sole chromosomal abnormality in a hepatoblastoma.

Short-term cultures of a fine-needle aspirate from a hepatoblastoma were analyzed cytogenetically. Trisomy 2 was found as the sole abnormality, yielding the karyotype 47,XY, + 2/46,XY. Because trisomy for all or part of chromosome 2 has been described, although together with other aberrations, in seven of the 11 hepatoblastomas hitherto reported, the finding of + 2 as the only anomaly in the present case strongly indicates that additional chromosome 2 material is of pathogenetic significance in this tumor type.

Carcinoma, Hepatocellular↗
PubMed1990

Chromosomal abnormalities in clear cell sarcoma. Implications for histogenesis.

Cytogenetic analysis was performed on three specimens of clear cell sarcoma, a rare neoplasm of uncertain histogenesis. Chromosomal analysis of clear cell sarcoma has not been reported previously. Two of the specimens analyzed consisted of the primary foot lesion and subsequent lymph node metastasis in a 29-year-old male. The other specimen was a primary foot lesion in a 61-year-old male. Clonal abnormalities were detected in all three of the specimens. The significance of these results with regard to the origin of this uncommon neoplasm is discussed.

Adult↗
PubMed1990

[Acute myelogenous leukemia (M2) simultaneously associated with multiple myeloma with special reference to chromosome abnormality of t(6; 14) (p21.1; q32.3)].

A 73-year-old male was admitted to our hospital in October 1987 because of severe anemia, anorexia, and loss of weight. The hemoglobin level was 5.7 g/dl, the white blood cell count 2,500/microliters with 5% myeloblasts positive for peroxidase, and the platelet count 8.6 x 10(4)/microliters. The LDH was 656 mU/ml, the total protein in the serum 7.4 g/dl, IgG 419 mg/dl, IgA 104 mg/dl, IgM 10 mg/dl, and urine Bence Jones (BJ) protein 8.8 g/day. The X-ray survey of the bones showed multiple osteolytic lesions. A bone marrow aspirate was hypercellular with 91.4% plasma cells, and was cultured a whole day for chromosome study. It revealed an abnormal karyotype of 46, XY, -15, t(6; 14) (p21.1; q32.3), +der(15)t(1; 15) (q23; q24). Immunoelectrophoresis demonstrated lambda type BJ protein. He was treated with melphalan and prednisolone. Proteinuria and marrow plasma cells decreased in amount. In December a white cell count was 6,030/microliters with 80% myeloblasts. A bone marrow aspirate revealed an increase of 82.6% myeloblasts or promyelocytes. The patient was refractory to chemotherapy and died of sepsis in April 1988. An unrelated abnormal karyotype; 48, XY, +8, +13 appeared concomitant with an increase of the leukemic cells, but no cells showed the t(6; 14). We cytogenetically discussed the simultaneous presence of multiple myeloma with acute myelogenous leukemia.

Aged↗
PubMed1986

Acute myeloid leukemia with marrow hypereosinophilia and chromosome 16 abnormality.

This article reports six cases of acute nonlymphocytic leukemia (ANLL) and an abnormal chromosome #16. All had the same hematologic pattern at diagnosis, i.e., peripheral blood hyperleukocytosis with a high percentage of monocytes and blast cells. The bone marrow showed three different cell populations: (a) myeloblasts, (b) monocytes and promonocytes, and (c) abnormal eosinophils. In three cases, an ultrastructural study confirmed the cytologic data. In all six cases, the diagnosis was acute myelomonocytic leukemia with bone marrow eosinophilia (M4-Eo). All cases showed an abnormal chromosome #16 in the bone marrow cells; in four cases, well-banded chromosomes were obtained, showing a pericentric inversion inv(16)(p13;q22). One patient had a 4-year remission, and another is still in remission 14 months after diagnosis. Three patients relapsed 7, 9, and 20 months after diagnosis. The last patient died soon after diagnosis. Thus, we do not support the hypothesis that patients with M4-Eo ANLL and chromosome #16 abnormality have a favorable prognosis.

Adult↗
PubMed2000

Rapid prenatal diagnosis of chromosome abnormalities.

The aim of the present work was to examine the efficacy of using FISH for the rapid prenatal diagnosis of common chromosome aneuploidies. A total of 100 analyses over a six month period were included in the study. Diagnosis was possible in all cases. A mosaic for trisomy 21 proved, by comparison with an extensive analysis of long term cultures, to be an apparent false positive. Otherwise the technique was reliable, accurate and relatively straightforward to perform. Results could be available within 24 hrs. In most cases an additional long term full analysis was also done, so as to exclude rarer aneuploidies and structural rearrangements. This methodology is seen as a useful addition to the prenatal diagnostic repertoire.

Chromosome Aberrations↗
PubMedDate not supplied

Nonrandom chromosomal abnormalities in lymphocyte cultures of individuals with colorectal polyps and of asymptomatic relatives of patients with colorectal cancer or polyps.

We studied chromosomal alterations in the peripheral blood lymphocytes of 10 individuals with colorectal polyps and 10 asymptomatic first-degree relatives of patients with colon cancer or colorectal polyps. The analysis was performed on T-lymphocytes using short term blood cultures and on B-lymphocytes by establishing lymphoblastoid cell lines by Epstein-Barr virus transformation. Chromosomal changes were not common in T- and B-lymphocytes. Chromosomes 1 and 5 were most frequently involved in numerical or structural changes in the patients with polyps as well as in the asymptomatic relatives. These alterations were observed in either the T-lymphocytes or the B-lymphocytes but rarely in both, thus accentuating the importance of studying both the cultures concurrently. Chromosome 5, which is known to play an important role in the development of adenomatous polyps, was found to be involved in 6 (60%) of 10 patients with polyps and 4 (40%) of 10 asymptomatic relatives. These findings show that lymphocytic chromosomal analysis can aid in identifying individuals who are genetically susceptible and are at a higher risk of developing colorectal cancer. Because lymphocytic chromosomal analysis is relatively simple and inexpensive, we expect that it will be very useful in screening asymptomatic individuals who are at a higher risk due to inherited or environmental factors.

Adult↗
PubMed1989

Acute nonlymphocytic leukemia with marrow eosinophilia and chromosome 16 abnormality: a report of 18 cases.

This article reports 18 cases of acute nonlymphocytic leukemia (ANLL) and abnormal chromosome 16. Thirteen had the same hematological pattern at diagnosis, i.e., peripheral blood hyperleukocytosis with high percentage of monocytes and blast cells, and bone marrow showing three different cell populations: (a) myeloblasts, (b) monocytes and promonocytes, and (c) abnormal eosinophils. In these cases the diagnosis was acute myelomonocytic leukemia with bone marrow eosinophilia, as described. However three other cases were of the M5 type and two others of the M2 type, all showing an abnormal eosinophilia in their bone marrow. All cases showed an abnormal chromosome 16 in the bone marrow cells: inv (16) in 13 cases, t (16;16) in two, del (16) in one of poor quality, and in two other translocations involving band 16q22. In one case the inv (16) was found in a subclone, indicating that it could be a secondary cytogenetic defect. Five patients died soon after diagnosis; the other 13 had a median complete remission duration of 8 months. The central nervous system was frequently involved upon relapse. We do not support the hypothesis that patients with M4-Eo ANLL and chromosome 16 abnormality have a favorable prognosis.

Adolescent↗
PubMed1986

Abnormalities of chromosome 7q and Tac expression in T cell leukemias.

Clonal chromosome abnormalities were demonstrated in 13 cases of T cell leukemia with a mature membrane phenotype. The cases comprised two adult T cell lymphoma leukemia (ATLL), five Sézary syndrome (SS), three T prolymphocytic leukemia (T-PLL), and three T chronic lymphocytic leukemia (T-CLL). The presence of clonal chromosome abnormalities in the three cases of T-CLL supports the view that although clinically benign, this disorder probably represents a neoplastic process. Cells from six of 11 patients were tested and found to be reactive with monoclonal antibody (McAb) anti-Tac in the absence of mitogens (two ATLL, two SS, and two T-PLL). Only the two ATLL patients were serologically positive for the human T cell leukemia virus I (HTLV-I), and their cells showed a higher anti-Tac reactivity. Chromosome 7 abnormalities were observed in seven cases (two ATLL, three SS, two T-PLL), and a strong correlation was seen between the presence of a 7q abnormality and the expression of the Tac antigen (T cell growth factor receptor). These findings are discussed in relation to the localization of T cell receptor genes on chromosome 7 and possible mechanisms for the activation of the Tac gene.

Antibodies, Monoclonal↗