Long-arm deletions in chromosome 6 in acute myelogenous leukemia: update on two cases.
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Biomedical subjects
Publications and source records attributed to T S Sundareshan.
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The expression of bleomycin-induced fragile sites (FS) in the blood lymphocytes of 150 individuals (100 oral cancer patients and 50 age and sex matched controls) is described. FS expression frequencies in oral cancer patients were significantly higher when compared with controls. FS expression was site specific in oral cancer patients. Chromosome 5 was the most affected, with four of its FS expressing in high frequencies. Enhanced expression of FS at the centromeric region was observed in the patient group. This study emphasizes the role of FS in the genetic susceptibility to oral cancer.
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We report cytogenetic findings from fine-needle aspiration samples of two synovial sarcoma patients. The cases are of interest because (1) one case is of a rare site (submandibular region) of the head and neck, and (2) the other is a patient with synovial sarcoma of the toe showing additional cytogenetic abnormalities along with t(X;18). The literature of this tumor is reviewed.
We report a case of acute myeloid leukemia (AML) [FAB-M5a] showing a deletion of the short arm of chromosome 2 at band p23 as a sole abnormality in the bone marrow cells. This abnormality deserves to be considered as an established nonrandom entity in AML.
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Chromosomal analysis was performed in fine needle aspiration samples of 98 primary Ewing tumors (ETs) prior to treatment. Among the 58 (59.18%) successful cultures, t(11;22)(q24;q12) was observed in 87.9% and 6.8% had abnormalities other than t(11;22), viz., del(22)(q12), der(16)t(1;16)(q12;q11), and variant t(8;22)(q24;q12). Involvement of breakpoints 1q21, 1q22, 3p14, 16q22, and 17p13 was also observed. Numerical abnormalities such as trisomies 8 and 12 were found in 29.3% and 20.6% and trisomy 18 in 17.2%. An attempt was made to evaluate the role of these additional changes in the process of tumor development, metastasis, and progression of the disease. This is the largest cytogenetic study on ET from a single center using a simple and reliable technique of fine-needle aspiration culture. The literature on cytogenetics of ET is reviewed.
Cytogenetic analysis of six non-small cell lung carcinomas (NSCLC) was carried out on overnight cultures of tumor material obtained from transthoracic fine needle aspirates to determine karyotype changes involved in the early stages of the disease. Multiple chromosome alterations were characterized. Numerical abnormalities included additional copies of chromosomes 3, 7, 8, 16, 17, and loss of chromosomes 1, 2, 6, 9, 12, 20, 21, and 22. Structural alterations included deletion or derivative chromosome 3 (band p14 or p21) in 5 patients. Clustering of other break points including 16q21, 17p13, 11p15, 15p12, 8p23, 4q27, 9p21, 12p13, 14p12, and i(Xq) was observed in the descending order of their involvement. These clonal abnormalities may be indicative of critical molecular events in the etiology of NSCLC.
Fragile site (FS) analysis was performed in 10 bronchogenic carcinoma families (non-small cell type) each represented by the patient and one adult offspring. Twenty age- and sex-matched controls were evaluated simultaneously for FS expression. The question whether increased fragility at band 3p14 exists in lung cancer patients or their offspring was examined. The expression level was found to be similar among patients, offspring, and controls.
Fragile site expression in blood lymphocytes of 56 individuals, including 11 Wilms tumor patients, family members, and controls, was studied by 5-fluorodeoxyuridine induction with caffeine enhancement. Significantly elevated expression of fra(11)(p13) was observed in the patient group, compared with controls. One patient clinically diagnosed with the Wilms tumor, aniridia, and genitourinary and retardation (WAGR) syndrome revealed constitutional deletion of 11p13. Expression of fra(11)(p13) in this individual was observed only on the nondeleted homologue. Among the family members studied, only one sibling showed elevated expression of fra(11)(p13).
A 13-year-old girl presented with swelling in the neck, fever, bleeding of the gums, and hepatosplenomegaly. Bone marrow morphology was suggestive of erythroleukemia (AML-M6). Chromosome analysis of the marrow revealed 48,XX, +21, +21 as the sole clonal abnormality.
The expression of fragile sites (FS) in the blood lymphocytes of 54 individuals, including 11 retinoblastoma (Rb) patients, their clinically healthy family members, and corresponding age- and sex-matched controls is presented. 5-fluorodeoxyuridine (5-FdU) and caffeine were used for FS induction. Enhanced expression of fra(13)(q13.2) was observed in the patient group as compared with controls. One of the patients had a constitutional del(13)(q14.2q21.2). In this individual, only the nondeleted homologue expressed the fra(13)(q13.2). Expression of fra(13)(q13.2) in two of the patients' unaffected younger siblings of different families showed statistically significant values. The possible relation between enhanced expression of FS and the inheritance of a genetic predisposition to Rb requires further examination.
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Complex translocation t(8;15;21)(q22;q21;q22) in a 9-year-old female with acute myeloblastic leukemia (M2) with bilateral chloroma is described. This particular variant type of translocation in M2 type is rare. The importance of variant translocation in defining the critical segment on the chromosomes responsible for phenotypic expression of the disease is emphasized.
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We report on apparently nonmosaic trisomy 22 in a liveborn girl with multiple congenital anomalies. The abnormalities were growth retardation; microcephaly; hypertelorism; epicanthic folds; anti-mongoloid slant; apparently low-set, malformed ears; highly arched, cleft palate; short webbed neck; and hypoplastic nails. The extra 22 was found to be of maternal origin by chromosome polymorphism.
During a 7-year-period (1980-1986) trisomy 21 was confirmed in 635 cases (257 males and 278 females). There were 611 cases of trisomy 21 (96.2%), 12 of different translocations (1.9%), 9 of mosaicism (1.4%), and 3 with nonclassical karyotypes (0.5%). The frequency of chromosome aberrations in our study is compared to that of major world-wide cytogenetic surveys comprising 17,738 Down syndrome cases. These surveys showed that regular trisomy 21 constitutes 92.9%, translocations 4.3%, mosaicism 2.2%, and nonclassical karyotypes 0.5%.