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Biomedical subjects

I Rosman

Publications and source records attributed to I Rosman.

10 recordsLinked to original sources

Deletion 20q in association with Philadelphia chromosome positive acute lymphoblastic leukemia. A report of two cases.

Cytogenetic deletions involving the long arm of chromosome 20 are thought to be characteristic of myeloid disorders. We report clinical and cytogenetic observations of two adult patients with Philadelphia chromosome positive acute lymphoblastic leukemia: one with a smaller 20q deletion that was the sole cytogenetic abnormality in a persisting remission clone, the other with a larger 20q deletion that was a late addition to the leukemic clone at disease relapse following allogeneic bone marrow transplantation.

Adolescent↗

Growth characteristics in vitro of myeloid leukaemic cells with t(6;9).

We report an analysis of in vitro growth characteristics of leukaemic cells from five patients with t(6;9)(p23;q34). Consistent with other reports of this abnormality, our patients were comparatively young (median age at diagnosis, 29 years), and responded poorly to conventional treatment (median survival from diagnosis, 10 months). During active disease the CFU-GM growth patterns were characterized by an abundance of granulocytic aggregates (mostly 20-100 cells in size) whose leukaemic origin was confirmed by cytogenetic analysis. During remission induction, colonies derived from regenerating normal progenitor cell colonies could be distinguished from those derived from persisting leukaemic cells on the basis of differences in size, morphology, in situ staining characteristics, and karyotype. Remission growth patterns were those of a normal bone marrow. Our findings add to a growing recognition that the t(6;9) identifies a subset of leukaemic patients with distinctive clinical, haematologic, molecular, and in vitro growth characteristics for whom conventional treatment offers little hope of cure or long survival.

Adolescent↗

A cytogenetic and molecular analysis of five variant Philadelphia translocations in chronic myeloid leukemia.

Three patients had complex translocations involving 9q34, 22q11, and a third chromosome (Xq11, 7q11.2, or 15q11.2). Two patients had apparently simple variant Philadelphia (Ph) translocations, t(19;22) and t(11;22), with no obvious involvement of chromosome 9, and the Ph was masked in the t(11;22). In situ hybridization studies showed transposition of the abl gene from chromosome 9q34 to the breakpoint cluster region (bcr) of chromosome 22 in all five patients; this was confirmed by rearrangements of the bcr gene in leukemic DNA. In situ hybridization also showed that the bcr-3' and c-sis probes consistently translocated to recipient chromosomes X, 1, 7, 11, and 15, whereas IgC lambda remained on chromosome 22q. These results confirm that association of abl and bcr is a consistent feature of chronic myeloid leukemia irrespective of the cytogenetic presentation and support the conclusion of Hagemeijer that all simple variant Ph translocations are, in fact, complex and involve at least three chromosomes.

Adult↗

Abnormal chromosome 16 in clonogenic eosinophils from a case of acute myeloid leukemia (FAB,M2).

A case of acute myeloid leukemia (AML, FAB M2) is described in which the leukemic karyotype showed several numerical and structural cytogenetic abnormalities including an abnormal chromosome 16 with breakpoint at band q22, monosomy for chromosomes 5 and 7, and a single pair of double minute chromosomes. There was no patient history of treatment for a previous malignancy or occupational exposure to mutagens. Bone marrow eosinophilia was seen at presentation for refractory anemia with excess blasts in transformation and when AML was diagnosed. When bone marrow buffy coat cells were cultured in soft agar in the presence of colony stimulating factor, 19% of the colonies and 20% of the clusters were of eosinophils. Cytogenetic examination of pooled eosinophil colonies showed the marker chromosomes that identified the leukemic population.

Bone Marrow↗

An identical t(Y;1)(q12;q21) in two patients with myelodysplastic syndromes.

Two male patients with myelodysplastic syndromes, one with refractory anemia with excess blasts (RAEB), the other with chronic myelomonocytic leukemia both had in their bone marrow and peripheral blood cells the same abnormal karyotype 46,X,-Y, + der (Y)t(Y;1)(q12;q21). This abnormality produced trisomy for the 1q21-1qter region of chromosome 1. In addition to the t(Y;1), the patient with RAEB had a del(20)(q11) abnormality in separate CFU-GM and BFUe progenitor cell populations. The t(Y;1) clone of this patient underwent chromosomal evolution with the acquisition of trisomies for chromosomes 2, 6, 8, and 9. Cytogenetic analysis of serial peripheral blood samples showed that the t(Y;1) clone and its derivatives gradually replaced that with the 20q- abnormality. Metaphase cells trisomic for chromosomes 2, 6, 8, and 9 were found predominantly in the CFU-GM population and only rarely in BFUe colonies, suggesting that chromosomal evolution was largely confined to the granulocytic lineage.

Aged↗

Essential thrombocythaemia and the Philadelphia chromosome.

Six adult patients presented with clinical features of essential thrombocythaemia. Five of the patients, although Ph-positive, have maintained these features without evidence of leukaemia; in one case for 9 years. A sixth patient developed leukaemic blast crisis following a persistently high platelet count over 4 years. Her cells were Ph-negative, but hybridization of gene probes to chromosomes in situ and to leukaemic DNA showed that the abl oncogene had moved to the breakpoint cluster region (bcr) on the normal chromosome 22. This patient has the same molecular gene change as occurs in some cases of Ph-negative chronic myeloid leukaemia (CML) whose leukaemic cells likewise show no evidence of chromosomal translocation. Molecular studies are essential for the correct diagnosis of these patients. The Ph genomic lesion appears to have a range of leukaemic expression which includes thrombocythaemia as well as chronic myeloid leukaemia and acute lymphatic leukaemia.

Adult↗

Karyotypic evolution in a B-cell lymphoma.

A B-cell lymphoma in the lung of a 59-year-old woman showed a near-pentaploid karyotype and chromosomal changes indicating a t(8;14) in cells from a pleural aspirate. Cells from metastases to the skin and a second pleural aspirate were pseudodiploid, but showed separate further complex cytogenetic changes. Among these was a 14q+ chromosome, but the #8 chromosomes apparently were normal. It is suggested that there was a loss of the derivative 8q- chromosome from the t(8;14) followed by homozygozity of the normal #8 chromosome.

Aged↗

Sex chromosome loss and clones characterized by autosomal abnormality in cultured corneal fibroblasts of man.

Cultured fibroblasts from 7 of 14 corneas showed loss of a sex chromosome in 20-100% of metaphase cells. An X chromosome was lost from female cells, a Y from male cells. Sex chromosome loss was more common in ophthalmologically abnormal corneas but did not show a strong correlation with donor age or with longer time in culture. Clones characterized by autosomal aneuploidy and aberrations were present in corneal cultures from seven donors. Their presence was not related to the incidence of sex chromosomal loss or prolonged culture time. Our results suggest that human corneal cells have a tendency toward loss of a sex chromosome and toward autosomal change, and that such cells form clones. It has yet to be determined if corneal cells undergo these cytogenetic changes and clone formation in vivo.

Adolescent↗

The wound fibroblast and macrophage. I: Wound cell population changes observed in tissue culture.

The number and type of cells which migrated from sequential explants of wounded fascia in rats reflected the dense and changing cell populations observed in healing wounds. Macrophages appeared in large numbers from explants taken in the 5 days following injury, thereafter fibroblast-like cells predominated. The results support the hypothesis that the fibroblast-like cell of tissue culture is the same as the wound fibroblast. The technique can be used to obtain wound cells and provides a useful bridge between in vivo and in vitro means of investigating wound repair.

Animals↗

Hydrogen-dependent organisms from the human gingival crevice resembling Vibrio succinogenes.

Twenty-eight strains of microaerophilic, motile, slightly curved gram-negative rods isolated from the gingival crevice of patients with gingivitis were studied. They seemed similar to Vibrio sputorum, though eleven strains differed in minor characters from Bergey's description under the new name Campylobacter sputorum, subspecies sputorum. The oral strains studied appeared to be closely related to several species of the genus Campylobacter and to Vibrio succinogenes. The oral strains were able to utilize gaseous hydrogen and to grow in a mineral medium with either nitrate of fumarate as hydrogen acceptor. Formate could replace hydrogen as hydrogen donor. In contrast the Campylobacter strains were not dependent on hydrogen or formate as energy source and grew poorly in mineral medium. In these nutritional and metabolic aspects the oral strains are more related to Vibrio succinogenes than to Campylobacter species. Serologically the oral strains differed from all the Campylobacter species. The GC ratio in the DNA of the oral strains varied between 48 and 50%, conform to the values described for Vibrio succinogenes. Vibrio sputorum seems a nomen conservandum and vibrio-like organisms from human infections should be tested for hydrogen-dependence before they are classified as Campylobacter species.

Agglutination Tests↗