Search PubMed⌕ Search

Biomedical subjects

J D Rowley

Publications and source records attributed to J D Rowley.

At least 307 records · Page 17Linked to original sources
PubMed1978

Chromosome abnormalities in patients with hairy cell leukemia.

We evaluated chromosomes from 20 patients with hairy cell leukemia (HCL) to ascertain the frequency and type of consistent chromosomal abnormalities. Samples from 17 patients were obtained from peripheral blood cultures grown 24 and 48 hours without phytohemagglutinin, or from bone marrow samples. Two male patients had similar, consistent abnormalities; one patient's karyotype was 46,X,+12; that of the second was 46,X,+C marker. In the latter case, the distal long arm of the C marker most closely resembled chromosome No. 12 from band q14 to q terminal, but the short arm and proximal long arm were of undetermined origin. Both karyotypes lacked the Y chromosome. A third patient had, in one sample, a single abnormal cell with an extra No. 3 and an extra No. 12 (48,XY,+3,+12), and in a later sample, a second cell of poor morphology which also could have been trisomic for no. 12. The two patients with consistent chromosome abnormalities had rapidly progressive disease and a relatively short clinical course from the time of diagnosis (5 and 7 months, respectively). Further data are needed, but the results thus far suggest that patients with consistent chromosome abnormalities could be considered as candidates for aggressive combination chemotherapy.

Adult↗
PubMed1978

Banding studies of chromosomes in a patient with mycosis fungoides.

Chromosomes from a patient with mycosis fungoides were examined in detail with banding techniques. Hyperdiploid cells from a lymph node had common anomalies of certain chromosomes which formed three similar clones. The abnormalities involved chromosomes No. 1, 2, 5, 8, 9, 10, 14, and 18, in addition to an unkwown small metacentric marker (M3). Although there were a number of mitotic cells in peripheral blood cultured both with and without PHA, none of the few cells with abnormal karyotypes was similar to the clonal cells of the lymph node. One of the abnormalities in the lymph node was a 14q rearrangement, which could be the result of a translocation of Nos. 8 and 14 involving a third chromosome, No. 2. An abnormality in the blood resulted from a translocation between the long arms of Nos. 1 and 14. These findings could be useful for studies in which mycosis fungoides is compared with the Sézary syndrome and other lymphoid malignancies.

Bone Marrow Examination↗
PubMed1978

Hypergranular promyelocytic leukemia (APL): cytogenetic and ultrastructural specificity.

Cytogenetic and ultrastructural findings were important diagnostic indicators of hypergranular promyelocytic leukemia (APL) in a patient whose bone marrow morphology appeared, by light microscopy, to be similar to that in acute myeloblastic leukemia (AML) with maturation. Peripheral blood smears and bone marrow specimens examined by light microscopy showed few cells with the numerous coarse, azurophilic granules typical of APL. Cytogenetic analyses, with several banding techniques, of cells from bone marrow and unstimulated peripheral blood revealed the 15;17 translocation, which has been observed only in APL. A reinterpretation of the reciprocal translocation, based on R banding, suggests that the breakpoints are distal to q24 in No. 15 and at or near the junction of q21 and q22 in No. 17. In addition, the patient had disseminated intravascular coagulation. The characteristic morphology of granules seen in APL was observed in this case only when transmission electron microscopy was used, since the granules were quite small. Since treatment for AML differs from that for APL, identification of the 15;17 translocation and ultrastructural evidence of granules represent valuable diagnostic aids for APL.

Adult↗
PubMed1978

Cytogenetic evidence for recurrence of acute myelogenous leukemia after allogeneic bone marrow transplantation in donor hematopoietic cells.

A 22-yr-old man with acute myelocytic leukemia received a bone marrow transplant from a genotypically HLA-identical female sibling after cyclophosphamide preparation. He remained in complete remission for 18 mo, when he developed a chloroma in the perineum. The chloroma was treated with local radiotherapy. The chloroma recurred 8 mo later and was treated with radiotherapy followed by combination chemotherapy. At 34 mo after transplant, marrow relapse and chloroma were documented. The first chloroma contained host cells by fluorescent Y-chromatin body analyses of interphase nuclei. All metaphase cells and karyotypes from peripheral blood and marrow samples showed no evidence of host cells from 3 wk after transplant through the time of marrow relapse. Data from autosomal and sex chromosome studies indicate that the marrow relapse occurred in cells of donor origin. A new consistent chromosome abnormality [45, X, -X, t(8;21) (q22; q22)] was observed in a majority of donor cells. The patient received a second bone marrow transplant from the same donor after preparation with busulfan and cyclophosphamide and attained a complete remission with full hematologic engraftment.

Adult↗
PubMed1978

Banding studies on chromosomes in diffuse "histiocytic" lymphomas: correlation of 14q+ marker chromosome with cytology.

Chromosomes were studied in cells from tissues primarily involved by diffuse "histiocytic" lymphoma in nine patients. Two of the patients had stage II disease; their tumors were fibrotic and had no mitotic cells. One patient was in stage III, and the remaining six patients had stage IV disease. The modal chromosome number of abnormal cells from these last seven patients was hypodiploid in two, hyperdiploid in four, and near-triploid in one. Complete banding studies of six cases and partial analysis of the seventh indicate that (1) every patient had a distinct cell line with common markers, with a few cells showing minor variants; (2) although certain chromosomes (Nos. 1, 2, 3, 9, 12, and 14) were structurally affected more often than others, no markers with the same banding pattern were noted among them; and (3) the cytologic type of lymphoma could be correlated with the karyotype in all seven patients. When the Lukes and Collins classification was used, three patients whose tumors were composed predominantly of large noncleaved cells showed a 14q translocation leading to the formation of a 14q+ marker chromosome. This marker was not observed in four patients whose tumors had a majority of large cleaved cells. These preliminary results, if confirmed in a larger series of patients, will provide additional evidence that there are consistent chromosome changes associated with specific subtypes of lymphoproliferative disorders analogous to the Ph1 chromosome in chronic myelogenous leukemia.

Chromosome Aberrations↗
PubMed1978

Deletion of the long arm of chromosome 20 [del(20)(q11)] in myeloid disorders.

Detailed clinical and cytogenetic studies were performed in five patients who had abnormal hematopoiesis and an acquired deletion of an F-group chromosome. Cytogenetic analyses, with banding techniques, of cells from bone marrow, spleen, or unstimulated peripheral blood showed a partial deletion of the long arm of one chromosome 20 [del(20)(q11)] in all five patients. Three patients had myeloproliferative disorders of uncertain classification, the fourth had possible preleukemia, and the fifth had acute myelomonocytic leukemia. Although the five cases showed certain similarities, the clinical and hematologic findings seen with the 20q- abnormality were not specific. None of the patients showed evidence of polycythemia vera or idiopathic acquired refractory sideroblastic anemia, two diseases previously associated with the 20q-. Our studies indicate that the 20q- abnormality is not limited to diseases primarily affecting erythropoiesis but that it can be found in the broader spectrum of myeloid disorders. In polycythemia vera, the 20q- has sometimes been regarded as a possible result of previous therapy with cytotoxic agents; however, four of our patients were untreated when the deletion was first noted.

Aged↗
PubMed1977

Further evidence for a non-random chromosomal abnormality in acute promyelocytic leukemia.

We have previously reported on two patients with acute promyelocytic leukemia (APL) who had what appeared to be a deletion of chromosome No. 17. We now describe a third patient with APL. All three patients had a structural rearrangement involving No. 15 and No. 17. Our current interpretation of the chromosomal abnormality is that it is a reciprocal translocation, t (15;17) (q22; q21). Evidence that this is a consistent rearrangement associated with APL comes not only from our three patients, but also from two other published cases of APL, studied with banding, who also had an identical abnormality.

Adult↗
PubMed1977

Chromosomal aneuploidy in a patient with hypereosinophilic syndrome. Evidence for a malignant disease.

A patient with rapidly fatal hypereosinophilic syndrome and a bone marrow chromosomal abnormality, 49,XYY,t(3:5),+8,+mar, is described. Scanning and transmission electron microscopy of eosinophils failed to reveal any significant abnormalities. Previous cytogenetic data on patients with hypereosinophilic syndrome have been deficient in that few studies have been performed with banding technics. These technics may help in the classification of hypereosinophilic syndrome and predict which patients will have a rapidly fatal course.

Aneuploidy↗
PubMed1977

Mapping of human chromosomal regions related to neoplasia: evidence from chromosomes 1 and 17.

In clonal aberrations leading to an excess or partial excess of chromosome 1, trisomy for bands 1q25-1q32 was noted in the myeloid cells from all of 34 patients who had various disorders such as acute leukemia, polycythemia vera, and myelofibrosis. This was not the result of a particularly fragile site in that region of the chromosome because the break points in reciprocal translocations that involve it occurred almost exclusively in the short arm. Two consistent rearrangements that have been observed in chromosome 17 produced either duplication of the entire long arm or a translocation of the distal portion of the long arm to chromosome 15. The nonrandom chromosomal changes found in hematologic disorders can now be correlated with the gene loci on these chromosomes or chromosomal segments. Seventy-five genes related to various metabolic enzymes have been mapped; it may be significant that chromosomes carrying gene loci related to nucleic acid metabolism are more frequently involved in hematologic disorders (and other malignancies as well) than are gene loci related to intermediary or carbohydrate metabolism. Furthermore, the known virus-human chromosome associations are closely correlated with the chromosomes affected in hematologic disorders. If one of the effects of carcinogens (including viruses) is to activate genes that regulate host cell DNA synthesis, and if translocations or duplications of specific chromosomal segments produce the same effect, then either of these mechanisms might provide the affected cell with a proliferative advantage.

Chromosome Aberrations↗
PubMed1977

Idiopathic acquired refractory sideroblastic anemia: Banded chromosome analysis in six patients.

Chromosome analyses with banding were performed on six patients with idiopathic acquired refractory sideroblastic anemia (IARSA). One patient was found to have an extra chromosome No. 8, but had a normal level of red cell glutathione reductase. Bone marrow chromosomes from the other patients showed a normal karyotype. 28 patients with IARSA, including our 6 patients, have had chromosomal analyses. Two consistent chromosomal abnormalities have been described: a + 8 in three patients and a 20q- in three others. Despite the presence of chromosomal abnormalities in abouut one half of the patients, no patients has yet developed acute myelogenous leukemia. Several have died of hemochromatosis. The presence of a chromosomal abnormality appears to have no influence on the early course of IARSA.

Adult↗