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Biomedical subjects

P Philip

Publications and source records attributed to P Philip.

At least 109 records · Page 6Linked to original sources

Fourth International Workshop on Chromosomes in Leukemia 1982: Abnormalities of chromosome 7 resulting in monosomy 7 or in deletion of the long arm (7q-): review of translocations, breakpoints, and associated abnormalities.

In summary, of 64 patients with total or partial monosomy 7, 21 cases showed a deletion of 7q, and a translocation resulting in loss of the whole or major portion of 7q was detected in six other cases; a consistent translocation involving chromosomes #7 and #17 was observed in four of the latter cases, resulting in an effective loss of 7q. In 23 of these 27 patients reviewed with loss of 7q, the common segment deleted involved 7q32 to 7q34 (Table). The most common abnormalities associated with -7 or 7q- were -5 or 5q- (26 cases) and monosomy 17 (16 cases); except for two patients, all of the latter also had -5 or 5q-. Fifteen of the 64 patients with -7 or 7q- had a secondary leukemia (23.4%). Other abnormalities, such as complete and partial trisomy 7 and various balanced translocations involving #7, were far less common. Only one of 16 cases had an associated 5q- chromosome, one was -17, and only one case had secondary leukemia.

Acute Disease↗

Triploidy with cyclopia and identical HLA alleles in the parents.

A 22-week pregnancy was terminated after discovery of serious echographic abnormalities. Fetal examination showed cyclopia, sacral meningocele, and syndactyly. The karyotype was 69,XXX. The parents had identical HLA alleles A1, A2, and Bw21. The mechanism of the triploidy was determined by chromosome marker analysis to be digyny. The association of triploidy with holoprosencephaly and the parents' identical immunological status are discussed.

Abnormalities, Multiple↗

Abolished production of interferon by leucocytes of patients with the acquired cytogenetic abnormalities 5q -- or -- 5 in secondary and de-novo acute non-lymphocytic leukaemia.

Interferon production by leucocytes on stimulation with inactivated antigens from herpes simplex virus, varicella zoster virus and cytomegalovirus was determined in 19 patients with preleukaemia or acute non-lymphocytic leukaemia, in 15 following treatment for other tumours. Production of interferon was abolished in 10 patients and preserved in nine cases after stimulation with herpes simplex antigen. Cytogenetic studies of bone marrow demonstrated an abnormal karyotype in 13/15 patients with secondary preleukaemia or leukaemia. Characteristics were (a) hypodiploid cell lines demonstrated in eight cases, (b) a B-chromosome defect found in five cases and verified as 5q -- in four, and (c) defects in C-group chromosomes in 10, verified as monosomy 7 in nine. All four patients with de-novo preleukaemia or leukaemia had abnormal cytogenetic findings, two B-chromosome abnormalities verified as monosomy 5. A relationship between abnormalities in chromosome no. 5 and abolished production of interferon was demonstrated, as only one of seven patients with 5q --, --5 or --B produced interferon by the leucocytes, compared with eight of a total of 12 patients with other cytogenetic defects or a normal karyotype (P=0.04). The results are remarkable, as chromosome no. 5 has recently been discovered to contain a gene for interferon production. Furthermore abolished production of interferon by leucocytes seemed correlated to previous irradiation and to disease-related fever.

Acute Disease↗

Cytoplasmic labelling of eosinophils with tritiated thymidine triphosphate.

A new technique which detects the presence of DNA polymerase and primer-template DNA by measuring the incorporation of 3H-thymidine-5-triphosphate (3H-TTP) showed cytoplasmic labelling of eosinophilic granulocytes and eosinophilic myelocytes in normals, in acute leukaemia, in chronic myeloid leukaemia and in patients with eosinophilia of unknown origin.

Bone Marrow Cells↗

Preleukaemia (haemopoietic dysplasia) developing in a patient with psoriasis treated with 8-methoxypsoralen and ultraviolet light (PUVA treatment).

A 73-year-old man who had suffered for many years from psoriasis was treated with systemic psoralen and longwave ultraviolet light. After 1 year he developed a preleukaemic condition characterized by a refractory anaemia, a slight thrombocytopenia and a normo- to hypercellular bone marrow with an excess of myeloblasts. Karyotyping revealed an abnormal chromosome (12p-) and agar cultures of bone marrow showed moderate growth with a high cluster/colony ratio. He died 1 year later of renal failure precipitated by an acute pancreatitis. Owing to the possible causal relationship we would like to advise increased attention to the haematopoietic system of patients treated with psoralen.

Aged↗

Brief reports.

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Chromosome Aberrations↗

Marker chromosome 14q+ in non-endemic Burkitt's lymphoma.

The chromosomal aberrations in tumor cells obtained by bone marrow aspiration from a patient with non-endemic Burkitt's lymphoma (BL) are reported. Twenty percent of the cells contained the marker chromosome 14q+ earlier described in endemic Burkitt's tumors. Other marker chromosomes were dound only in mitoses which did not contain the 14q+.

Adolescent↗

Trisomy 8 in acute myeloid leukaemia: A non-random event. Lack of correlation with prognosis and cytokinetic parameters.

6 cases of AML with a supernumerary chromosome 8 as the only aberration in practically all bone marrow mitoses and 10 cases with a normal chromosome composition of the marrow cells were investigated in order to evaluate the possible influence of trisomy 8 on some clinical and cytokinetic parameters. No significant differences between the groups were found. In our laboratory a supernumerary chromosome 8 is present in 36% of AML cases with chromosomal aberrations.

Adolescent↗