13-cis retinoic acid treatment for myelodysplastic syndromes.

To test the biologic activity of 13-cis retinoic acid (13-CRA) in patients with myelodysplastic states (MDS), we administered 13-CRA orally (2.5 mg/kg/d initially, escalated to 4 mg/kg/d) for 8 weeks to 15 consecutive patients. Eight of 15 patients (53%) experienced an increase in peripheral granulocyte counts of greater than 20% (range, 22% to 700%).

Responses of hemopoietic precursors to 13-cis retinoic acid and 1,25 dihydroxyvitamin D3 in the myelodysplastic syndromes.

To determine the effects of the "maturation-inducing" agents 13-cis retinoic acid and 1,25 dihydroxyvitamin D3 on marrow cells from normal individuals and patients with myelodysplastic syndromes (MDS), we assessed marrow hemopoietic clonogenicity and differentiation response patterns to these agents. These vitamins caused increased proliferation in vitro of normal clonogenic marrow myeloid precursor cells (CFU-GM), decreased erythroid precursors (BFU-E), and no change in multipotent stem cells (CFU-GEMM). Marrow hemopoietic colony-forming cell incidence was generally subnormal in the 22 MDS patients evaluated.

The Philadelphia chromosome: a model of cancer and molecular cytogenetics.

Recent developments in molecular biology related to the Ph chromosome lead us to an evaluation of knowledge regarding this chromosome. The molecular advances are related to two cellular oncogenes, c-abl and c-sis, and also to the identification and molecular cloning of specific areas of DNA (e.g.

Chromosome clues to acute leukemia in Down's syndrome.

Surprisingly few cases of Down's syndrome with acute leukemia have been documented by chromosome banding studies of the leukemia cells. We studied a Down's syndrome child with acute myelomonocytic leukemia and found that, including this case, only 24 cases of Down's syndrome and acute leukemia have been reported with chromosome banding analysis. Twenty-three of the patients had a trisomy 21 chromosome complement, whereas, one had a translocation.

Genetic control over fragile X chromosome expression.

The cytogenetic expression of fragile sites is highly variable. Sites are seen in differing proportions of cells. To determine if part of this variability is genetic, the proportions of lymphocytes manifesting the fragile X were examined in a large cohort of males with the fragile X chromosome.

Cytogenetic and immunophenotypic analysis of cell lines established from patients with T cell leukemia/lymphoma.

Cell lines were established from five patients with T cell malignancies. Two patients had T cell lymphoblastic lymphoma (T-LL), whereas three patients had T cell acute lymphoblastic leukemia (T-ALL). Both T-LL cell lines expressed cell surface antigens characteristic of midthymocytes (Leu 2, 3, 6+).

Population cytogenetics of autosomal fragile sites.

The present investigation deals with a population chromosomal survey for autosomal fragile sites under conditions of folate deprivation in 405 mental retardates. A total of 13 ascertainments of folate sensitive autosomal fragile sites is observed, of which 10q23 fragility appears to be the most frequent. Further cytogenetic studies of normal and retarded individuals are required to help elucidate the possible phenotypic effect of these autosomal sites and mental retardation.

Congenital cutis laxa with retardation of growth and motor development: a recessive disorder of connective tissue with male lethality.

A syndrome of cutis laxa, ligamentous laxity and delayed motor development has been reported in 13 children. All are girls. Four are from Saudi Arabia.

Chromosome change in transitional cell carcinoma of ureter.

Primary transitional cell carcinoma of the ureter is a relatively rare cancer. A case of transitional cell carcinoma of the mid-portion of the ureter in an adult male has been studied cytogenetically and has been found to have trisomy of chromosome #7 (+7) as the only karyotypic abnormality. In an earlier instance of transitional cell carcinoma of the ureter, we observed trisomy 7 together with monosomy 9 and an isochromosome for 5p.

Leukemia with Down's syndrome: translocation between chromosomes 1 and 19 in acute myelomonocytic leukemia following transient congenital myeloproliferative syndrome.

A girl with Down's syndrome was born with a myeloproliferative disorder. The child had spontaneous regression of the myeloproliferation, with acute leukemia developing at a later date. Morphologic, cytochemical, immunologic, and immunoglobulin gene configuration studies all supported the diagnosis of acute nonlymphocytic leukemia.

Deletion of chromosome band 13q14: a primary event in preleukemia and leukemia.

Chromosome abnormalities were analyzed in 200 consecutive patients with preleukemia and leukemia, and four patients were found with a deletion of 13q14 for an incidence of 2%. Together with data on chromosome aberrations in cancer from the literature, our results indicate clearly that deletion of band 13q14 is a nonrandom chromosome anomaly in premalignant and malignant blood disorders. Deletion of 13q14 appears specifically to constitute a primary event in the initiation of preleukemia.

Translocation (1;7)(p11;p11): a new myeloproliferative hematologic entity.

Four cases with myeloproliferative syndromes or acute nonlymphocytic leukemia associated with t(1;7)(p11;p11) are presented. In each case, as in all cases published in the literature, the karyotypes of the affected cells contained two normal chromosomes #1, but only one chromosome #7, with the result that the basic karyotype was 46, -7, +t(1;7). This chromosome change is not geographically restricted, and appears to characterize a group of patients with myeloproliferative disorders and acute nonlymphocytic leukemia, including myeloproliferative syndromes, in whom exposure to previous chemotherapy, x-rays, or drugs is in the background history.

Enhanced expression of chromosome fragile site 10q25 in chronic myelogenous leukemia.

Spontaneous expression of a BrdU-sensitive fragile site at 10q25 was observed in normal lymphocytes and malignant blood and bone marrow cells in chronic myelogenous leukemia (CML). The cells were marked by a Philadelphia chromosome rearrangement due to insertion of 22q11----q13 at 11q13. The fragile site at 10q25 was expressed in larger proportions of malignant than normal cells.

Unexpected lambda chain expression in lymphocytic malignancy.

Specific chromosome changes occur in the initiation and progression of cancer. A translocation between chromosomes 14 and 18 arises as a primary cytogenetic event in the formation of non-Hodgkin, non-Burkitt lymphomas (BL), while a translocation between chromosomes 2 and 8 is seen in BL and BL-type acute lymphocytic leukemia (ALL-L3) with expression of kappa (kappa) light immunoglobulin chains. These two translocations were detected in a lymphocytic malignancy expressing not kappa, but lambda (lambda) light chains.

Nonreciprocal chromosome translocation t(5;14) in cancers of the kidney: adenocarcinoma of the renal parenchyma and transitional cell carcinoma of the kidney pelvis.

Chromosome studies were done on an adenocarcinoma of the kidney and a transitional cell carcinoma of the kidney. The adenocarcinoma was in the renal parenchyma, whereas the transitional cell carcinoma was in the kidney pelvis. The adenocarcinoma was moderately well differentiated, and the transitional cell tumor was poorly differentiated.