Biomedical subjects
Publications and source records attributed to F Prieto.
We studied a family in which three of the members present one chromosome 6 with an isochromatid gap at the band 6q15 level. Studies of the chromosomes by various banding techniques suggested that the secondary constriction represents a stalk from an acrocentric chromosome inserted into 6q15. The possible influence of the abnormal localization is considered.
Complete or partial trisomy of the long arm of chromosome #1 was observed in six patients with malignant disorders. Four patients suffered from hematologic diseases (two cases of refractory anemia with excess of blasts and one case each of acute myeloblastic leukemia and Burkitt lymphoma), and two had solid tumors (retinoblastoma and Ewing's sarcoma). In all cases the excess material included the distal part of chromosome #1. Such material was translocated to chromosomes #16 (three patients), #3, #9, and Y (one patient each), and this was accompanied by additional cytogenetic changes in five of the six patients. The present and other previously published observations support the hypothesis of the localization of genes responsible for malignant growth in the distal segments of chromosome #1.
We present herein a case of acute nonlymphocytic leukemia, type M2 of the FAB classification, in which the cytogenetic study of the bone marrow cells showed a trisomy 4 as the only alteration. This case was detected from among 118 cases of acute nonlymphocytic leukemia under cytogenetic study.
We present a case of refractory anemia with monosomy 2 in the 41 cells of the bone marrow studied and a double minute chromosome (dmin) in 68% of these cells. The illness developed over a period of 3 years and the patient died of cerebral hemorrhage without developing leukemia.
A complete staged reconstruction has been performed on a 4-year-old girl with imperforate anus, rectovestibular fistula, and colonic atresia. The rectal remnant was a small 10 cm long segment, widely separated from the right colon. An end colostomy had been performed in the neonatal period elsewhere. Associated urinary anomalies were treated first. At the age of 4 years, distal colon remnant dilatations were started using a balloon catheter through the vestibular orifice. Four months later, end-to-end ascending colon-sigmoid anastomosis was done, after colonic mobilization and tapering. A temporary loop ileostomy was left at the left upper quadrant. Three months later a posterior sagittal anorectoplasty was successfully performed. At the age of 5 years she has achieved fecal continence, after the ileostomy closure.
We present a dysmorphic syndrome in eight males of the same family (four brothers, three cousins and one uncle) that is characterised by: mental retardation, facial dysmorphia, abnormal growth of teeth, skin dimple at the lower back, clinodactyly, patella luxation, malformation of lower limbs, abnormalities of the fundus of the eye and subcortical cerebral atrophy. These physical defects do not correspond to any previously described syndrome, which suggests that it is a new syndrome. According to the model of heredity this syndrome could be due to a mutant gene situated in the X-chromosome.
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Cytogenetic studies were carried out in 18 patients with secondary blood diseases; 15 patients had a history of prior malignancy, two had been professionally exposed to carcinogenic agents, and one patient had been treated with immunodepressors. The interval between initial therapy and secondary disease ranged from 13 to 123 months, with a mean of 57.8 months; the mean survival time from the diagnosis of secondary disease was 6 months. Cytogenetic abnormalities were present in 83% of cases, with a trend to hypodiploidy in 90%. The most often involved chromosomes were #5, #7, and 3p. A correlation between the cytogenetic abnormalities and etiologic factors has been analyzed; data from the present series and from the literature suggest a correlation between chromosome #7 and chemical agents, and chromosomes #11, #12, and #17 and physical agents.
A cytogenetic study carried out on affected tissues of six children with Burkitt's lymphoma revealed five cases with a typical translocation (8q-; 14q+) and one with a variant t(2p-; 8q+). Additional cytogenetic variations were present in three cases. One had two acrocentric marker chromosomes comprised of material from chromosome #1 (1q21----q44) translocated to the Y gonosome. The other two cases had a cytogenetic alteration of chromosome #12. Cytogenetic studies carried out systematically in Burkitt's lymphoma could be a great help in possibly establishing differences in the biologic and clinical aspects of cases presenting with the t(8;14) versus cases with variant translocations, as this would allow for classification of these patients into groups which, at present, cannot be differentiated using other diagnostic methods.
A cytogenetic study carried out by a direct method on the tumor of a patient with Ewing's sarcoma showed a t(11;22) in the six cells studied. The fact that this structural alteration was detected by a direct method indicates that the translocation is present in Ewing's sarcoma cells and that this alteration, when detected in established cell lines and short-term cultures, is not an alteration induced by the conditions of culture.
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We present the cytogenetic and hematologic study of a 6-year-old child with a variant form of acute promyelocytic leukemia (M3) who died of a brain hemorrhage. The brief survival and the hyperleukocytosis (greater than 200,000 mm3) suggests a very bad prognosis in children with this variant form of M3 leukemia.
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One hundred and nine patients with Ph1-positive chronic myelocytic leukemia were cytogenetically studied with banding methods. Seventy-eight patients were studied in the chronic phase and 39 patients in the blastic phase. The standard translocation was present in 107 cases. Two patients showed complex translocations involving chromosomes No. 6, 9, 22, 11 and No. 9, 22, 11, respectively. Ph1-negative cells were detected in 8 cases (7%). Chromosome aberrations in addition to the Ph1 chromosome were observed in 6 cases (8%) during the chronic phase. The karyotypic findings during the blastic phase were similar to those reported in the past [trisomy 8, iso(17q), and a second Ph1]. The significance of Ph1-negative cells, the geographic heterogeneity of the chromosomal aberrations, the effect of chemotherapy on the appearance of new clones, and the importance of the materials and methods used for the comparison of cytogenetic patterns at different laboratories are discussed.
Two hematologic cases with translocations involving chromosomes #3 and #12 are described. The first case is that of a myeloproliferative disorder (preleukemia?) associated with a (3;12)(q29;q24) translocation in the bone marrow cells. No evidence of leukemic transformation has appeared to date. The second case is that of acute leukemia (AL) (M4 type) in which leukemic cells with t(3;12)(p14;q24) were seen. The roles of chromosomes #3 and #12 in hematopoiesis are considered, and the abnormalities affecting these chromosomes in various hematologic disorders have been tabulated and correlated. Abnormalities in chromosomes #3 and #12 appear to be common and nonrandom in hematologic diseases of a premalignant and a malignant type.