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Biomedical subjects

F Solé

Publications and source records attributed to F Solé.

17 recordsLinked to original sources

Cytogenetic studies in acute nonlymphocytic leukemia.

Cytogenetic studies were performed in 74 untreated patients with acute nonlymphocytic leukemia (ANLL) between 1985 and 1988. Among 56 patients who were examined successfully at the time of diagnosis, 36 had abnormal karyotypes (64.2%). The distribution of chromosome abnormalities was uneven, according to the categories of the French-American-British (FAB) nomenclature. The highest frequency of chromosome abnormalities was observed in ANLL M4 with bone marrow (BM) eosinophilia (M4Eo). Numerical changes were observed in 11 cases; chromosome 8 was most frequently gained (11 patients), whereas chromosome 7 was most frequently lost (4 patients). Structural rearrangements were detected in 18 patients. Involvement of 16q22 was noted in 7 patients, 5q- was noted in 5, t(8;21) in 3, t(1;7) in 2, del(20) in 2, and involvement of 11q23 was noted in 2. The inversion of chromosome 16 was restricted to the M4Eo subtype. This study identified a novel abnormality [inv(2) (p11.2q11.2)] that had not been reported previously by other investigators.

Adolescent

New chromosomal abnormality. t(1;19;?) in a case of B-chronic lymphocytic leukemia.

Cytogenetic analysis was performed on peripheral blood cells stimulated with interleukin 6 (IL-6), lipopolysaccharide from Escherichia coli (LPS), phytohemagglutinin (PHA), pokeweed mitogen (PWM) and tetradecanoyl-phorbol-acetate (TPA), in a patient with B-chronic lymphocytic leukemia, showing a t(1;19;?) translocation as the sole abnormality. To our knowledge, this translocation has not been described before in any human neoplasia. In this case, the poor response to therapy (survival time 4 months) suggested that t(1;19;?) could be related to an aggressive course of the disease.

Aged

Cytogenetic studies in 112 cases of untreated myelodysplastic syndromes.

Cytogenetic studies were performed in 112 untreated cases of myelodysplastic syndrome (MDS) between 1985 and 1990. Among 112 patients who were examined at the time of diagnosis, 54 had an abnormal karyotype (48%). The highest frequency of chromosome abnormalities was observed in refractory anemia with excess of blasts (RAEB) and RAEB in transformation (RAEB-t) and the lowest in refractory anemia with ring sideroblasts (RARS) and chronic myelomonocytic leukemia (CMMoL). Numerical changes were observed in 19 cases and structural in 17; chromosome 8 was most frequently gained (11 cases), whereas chromosome 7 was most frequently lost (6 cases), 5q- in 14 (4 as a sole anomaly); involvement of 7q22 was seen in 3 cases, 11p in 2 patients, 11q in 3 (one patient as a sole anomaly), 12p in 4 (2 patients as a sole anomaly), i(17q) in 4 (3 patients as a sole anomaly), and complex chromosomal defects in 10 patients. If one takes into account the prognosis value, a complex karyotype and the presence of ring chromosomes were correlated with the worst prognosis, followed by -7/7q-; an intermediate prognosis corresponds to i(17q), 12p as a sole anomaly, +8 (as a sole anomaly or plus other anomalies), and involvement of 12p. Patients with a 5q- as a sole anomaly or with a normal karyotype, had the best prognosis.

Adolescent

[Description of 2 patients with cytogenetically abnormal clones].

We present two patients with two cytogenetically unrelated clones. A patient was diagnosed of refractory anaemia and showed an abnormal clone with trisomy 8 and other clone with 5q-; the other patient, diagnosed as chronic lymphocytic leukaemia showed a clone with an inversion of chromosome 2, inv(2) (p23q12) and the other clone with a 47,XX,+5,t(16;17)(p13;q11),+2ac karyotype. The discussion is focused on the presence of unrelated clones in relation to the monoclonal origin of cancer.

Aged

Trisomy 12 in chronic lymphocytic leukemia: an interphase cytogenetic study.

Interphase cytogenetics by means of in situ hybridization with the chromosome 12-specific biotinylated alpha satellite DNA probe pSP 12-1 was used for the study of trisomy 12, the most common chromosomal abnormality in chronic lymphocytic leukemia. In situ hybridization was performed on methanol/acetic acid fixed cells of conventional cytogenetic preparations from eight patients and on morphologically and immunologically classified cells of cytospin preparations from seven patients. The results show that trisomy 12 is more common than assumed on the basis of karyotype analysis of metaphase chromosomes: 2 of 13 patients with a normal karyotype in G-banding analysis were shown to have trisomy 12 by interphase cytogenetics. Immunophenotyping of the cells of one patient showed that the trisomy was restricted to cells with Ig light chain clonality. For the evaluation of the prognostic, therapeutic, and biologic significance of trisomy 12, in situ hybridization should be used in parallel with karyotype analysis because it allows the study of all cell populations of both interphase and mitotic cells, whether neoplastic or normal.

Aged

G-banding improvement for the MAC method.

Satisfactory identification of the neoplastic cell as well as an optimal G-banding of its chromosomes are routinely obtained in our laboratory using a modification of the method described by Knuutila et al. Mitotic cells are first identified by either cytochemical or immunological staining. For G-banding, the preparations are then destained with methanol:acetic acid, treated with 2 x SSC at 65 degrees C and restained with Wright stain.

Chromosome Banding

[Isochromosome 17q as the sole alteration in 2 patients with a myelodysplastic syndrome and its relation to myeloperoxidase activity].

Two patients diagnosed of myelodysplastic syndrome with an isochromosome i (17q) as the only chromosomal alteration are presented. The MAC method (i.e., morphology, antibodies, chromosomes) was applied in the study of one of the patients, it being found that all the myeloperoxidase-positive cells carried the i (17q) anomaly. Such finding might suggest that those patients with i (17q) as the only chromosomal alteration could have specific clinical and cytological features.

Aged

Cytogenetic study of a patient with the Sézary syndrome.

A cytogenetic study was performed in a patient with Sézary syndrome, which is a T-helper lymphoproliferative disorder. Metaphases were obtained from a phytohemagglutinin-stimulated lymphocyte culture. Normal, hypodiploid (42 to 45 chromosomes) and hypotetraploid (84 to 88 chromosomes) cells were observed. Both abnormal cell lines showed the same abnormalities involving chromosomes 1, 2, 4, 6, 10, 11, 12, 14, 16, and 20.

Aged

Translocation (2;7)(p13;q36) in a case of acute nonlymphocytic leukemia evolving from a myelodysplastic syndrome.

A case of acute nonlymphocytic leukemia with a new translocation, t(2;7)(p13;q36), as the sole karyotypic abnormality is reported. The patient's leukemia evolved from a cytogenetically normal myelodysplastic syndrome of 4 years' duration. Following treatment the patient entered complete remission with loss of the cytogenetically abnormal clone. Subsequent bone marrow analyses showed recurrence of the myelodysplastic syndrome with a normal karyotype. Although both chromosomes 2 and 7 are known to be involved in nonrandom karyotypic changes in human cancer and leukemia, t(2;7)(p13;q36) has not been reported previously.

Aged