Sonia Brieux de Salum

Heterochromatic variants and their association with neoplasias. II: Preleukemic states

A study of the heteromorphism of chromosomes #1, #9, and #16 was performed in the cells of 55 normal subjects and in those of 40 preleukemic patients including those with refractory anemia (RA) and sideroblastic anemia (SA), classified on the basis of the FAB nomenclature. Heteromorphism was present in 85% of the preleukemic patients, compared with 44% in normal controls (p less than 0.01). The patient population presented an increased incidence of C-band size variants in chromosome #1 (1qh+ and 1qh-), while chromosomes #9 and #16 showed no difference, compared with the findings in the control group.

Abnormalities of chromosome No. 1: Two cases with lymphocytic lymphomas

Abstract Two cases of lymphocytic lymphoma with a duplication of part of the long arm of chromosome #1, between bands 1q25 and 1q32, are presented. The coincidence between this finding with others in the literature supports the concept that this specific chromosome segment is related to the proliferative advantage of malignant cells in neoplasia.

Translocation t(1;5) in a case of carcinoma of the cervix

We report a case of carcinoma of the cervix uteri, which presented both numerical and structural chromosome changes. The tumor showed the coexistence of lines with different modal chromosome numbers, but all of them with the t(1;5)(q25;132). We also observed the presence of double minutes, dicentric chromosomes, small acentric fragments, and/or tri- and quadriradial figures in 11% of the cells.

Sister chromatid exchanges in leukemic patients

Sister chromatid exchange (SCE) was studied in PHA-stimulated peripheral blood lymphocytes from 36 newly diagnosed and untreated leukemic patients: 16 with acute lymphoblastic leukemia (ALL), 10 with acute nonlymphocytic leukemia (ANLL), and 10 with chronic myelocytic leukemia (CML). The metaphases analyzed show no chromosomal abnormalities. The mean SCE frequency (mean +/- SE) for each group of patients was: 6.8 +/- 0.4, 6.6 +/- 0.3, and 7.0 +/- 0.6 per mitosis, respectively, which was significantly lower than the mean SCE score for 30 controls (8.7 +/- 0.2). No differences in SCE score among ALL, ANLL, and CML and a similar SCE frequency by chromosome number and group allowed consolidation of all the cases into a single group of 36 leukemic patients (6.8 +/- 0.3). When the frequency of SCE was compared by chromosome number and group between the leukemic patients with the control group, a significant decrease in SCE frequency was observed due to a low SCE score in almost all the complements, except chromosome #1. It is suggested that the low SCE rate is related to the leukemic process itself.

Ph1-negative chronic myelocytic leukemia (CML) with an unusual karyotype☆

Abstract A case of Ph 1 -negative chronic myelocytic leukemia is reported. Cytogenetic analysis and the development of colonies in soft agar culture 2 months before the clinical manifestation of the acute phase of the disease clearly indicated the bad prognosis of the patient. An extra #8 chromosome was found in 23% of his cells. Also of note was the presence of an abnormal clone characterized by t(12;13).