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Biomedical subjects

U Surti

Publications and source records attributed to U Surti.

At least 55 records · Page 3Linked to original sources
PubMed1993

Chromosome 7 biclonality in uterine leiomyoma.

Biclonal chromosome complements in uterine leiomyoma have been reported occasionally. These previous studies reported the presence of two unrelated clones containing mainly t(12;14) and del(7). We describe four cases of typical leiomyoma displaying two clones, both involving chromosome 7 but with a different deletion in each of the two clones. For two of the tumors, the biclonal origin is the only possible explanation; for the remaining two cases, the origin of the two deleted chromosomes 7 could also be explained by clonal evolution, since the more proximal deletion on chromosome 7 in one clone appears to be subsequent to the deletion of the other clone. Even in these cases, however, the biclonal origin cannot be excluded completely. Despite the mechanism of origin, deletion of chromosome 7 is the most common cytogenetic abnormality in leiomyoma, indicating that loss of genetic material from the long arm of this chromosome is critical for tumor development.

Adult↗
PubMed1993

Involvement of 10q22 in leiomyoma.

Cytogenetic investigation of uterine leiomyomas revealed a rearranged 10q22 present in nine tumors as a clonal change in most of the cells analyzed. These findings indicate that abnormalities involving chromosome 10 and, particularly 10q22, may characterize a cytogenetic subgroup of uterine leiomyomas.

Chromosome Aberrations↗
PubMed1993

Deletion 7q22 in uterine leiomyoma. A cytogenetic review.

The cytogenetic patterns of uterine leiomyomas have been extensively investigated, and cases characterized by specific clonal changes have been documented in detail. In these tumors one of the cytogenetic changes frequently observed has been a del(7), particularly del(7)(q22), usually as a sole anomaly. This is confirmed by our experience and by reports in the literature. The fact that del(7) is one of the most common abnormalities in leiomyoma raises the question of its role in tumor development. The main purpose of this review is to analyze the above aspect and to interpret its possible meaning. Our findings on cytogenetic abnormalities of chromosome 7 in leiomyoma, together with those reported in the literature, are reviewed and discussed. A listing of the genes located at 7q22 is also presented.

Chromosome Deletion↗
PubMed1992

Inversion (X)(p22q13) in a uterine leiomyoma.

We report a case of uterine leiomyoma which showed a karyotype 46,X,inv(X)(p22q13) as the only clonal change in most of the cells. A few cells had an additional del(7), though del(7) has been found to be a primary change in leiomyomas. These findings indicate that the abnormality involving the X chromosome and particularly Xp22 can be considered as a primary chromosomal abnormality. We discuss the findings together with few reports of cases involving chromosome X in leiomyomas.

Chromosome Aberrations↗
PubMed1992

Sister chromatid exchange and chromosome breakage in complete hydatidiform moles.

Women with complete hydatidiform moles (CHM) are at a 10% risk for developing persistent trophoblastic disease or choriocarcinoma. We studied sister chromatid exchange (SCE) as a prognostic indicator for malignancy in peripheral blood lymphocytes (PBL) from women with CHM and their husbands, but found no differences from normal control couples. SCE levels in cultured tissue derived from 11 CHM (avg. 7.9) and 2 choriocarcinomas (avg. 6.8) were not significantly different from those of 8 normal skin fibroblast cultures (avg. 7.8). These same tissues were then examined for chromosome breakage which was significantly higher for CHM (0.48/cell) and choriocarcinoma (0.87/cell) than normal fibroblasts (0.33/cell). Chromosome breaks occurred at 50-60% known fragile sites and at 50-55% of cancer breakpoints. Whereas SCE was only associated with 13% of breaks in the three tissues, half of these were at known fragile sites. Our results suggest that SCE is not an indicator of malignancy in PBL or cultured cells from CHM or choriocarcinoma and that the level of SCE is not elevated in CHM or choriocarcinoma. However, our results confirm the increased breakage seen in the latter two tissues which may represent general DNA instability predisposing to choriocarcinoma and its accompanying chromosomal rearrangements.

Cells, Cultured↗
PubMed1992

Genetics and biology of human ovarian teratomas. III. Cytogenetics and origins of malignant ovarian germ cell tumors.

This report presents cytogenetic data on three cases of malignant ovarian germ cell tumors. All were diagnosed as malignant teratoma; case 1 with yolk sac elements; case 2 with elements of endodermal sinus tumor, embryonal carcinoma, and choriocarcinoma; and case 3 with yolk sac elements and embryonal carcinoma. Metaphase cells from each tumor, and normal tissue from the host, were karyotyped and scored for centromeric heteromorphisms in an attempt to determine the mechanism of origin. The karyotypes were 79,XXX,+1,+3,-6,+8,+12,+14,-15,+17, +20,+21,+22;49,XX,+8,+12,+22; and 48,XX,+3,+14, respectively. The analysis of centromeric heteromorphisms and DNA fingerprints of host and teratoma using the M13 probe revealed that one case originated from a germ cell before the first meiotic division. Normal host tissue was not available in case 2, but several centromeric markers were heterozygous in the tumor, indicating either meiosis I error or complete failure of germ cell meiosis. In the third case the centromeric heteromorphisms that were heterozygous in the host appeared to be homozygous for certain chromosomes and heterozygous for others in the tumor. These results suggest that germ cell teratomas could arise by the fusion of two ova.

Adolescent↗
PubMed1992

Cytogenetic analysis of a uterine lipoleiomyoma.

We cytogenetically analyzed a uterine lipoleiomyoma. A primary chromosomal abnormality, t(12;14), was found in all 62 cells studied. A secondary change involving chromosomes 1 and 5 was detected in 15 of 62 cells. These findings suggest that lipoleiomyomas share the same chromosomal abnormalities found in common leiomyomas. We speculate that the secondary chromosomal change involving chromosomal 5 may be responsible for the lipomatous change.

Chromosomes, Human, Pair 1↗
PubMed1992

Uterine leiomyomas: cytogenetic and histologic profile.

OBJECTIVE: The main purpose of this study was to determine whether there is any correlation between the cytogenetic abnormalities and histology in uterine leiomyomas. METHODS: A total of 93 benign uterine leiomyomas were included in the study. The majority (88 of 93) were classified as typical benign leiomyomas, four as cellular, and one as atypical symplastic. RESULTS: A normal chromosome complement (46,XX) was observed in approximately 50% of the cases (41 of 93). Seventeen leiomyomas did not grow sufficiently in culture to yield cells for chromosome analyses. Of the 35 cases with clonal abnormalities, 28 could be divided into four major subgroups, each representing one of the most common abnormalities observed, such as those of chromosomes 1, 7, and 13, and t(12;14). CONCLUSIONS: Our findings indicate that approximately 50% of leiomyomas show clonal abnormalities, which can be subdivided into four different major categories; four of five (80%) of the atypical leiomyomas showed clonal chromosome abnormalities, which in one case were complex. The results indicate that different specific chromosome abnormalities may characterize the same tumor type.

Adult↗
PubMed1991

Associated leukemia and mixed germ cell tumor in a patient with gonadal dysgenesis.

A 16-year-old phenotypic female developed acute myeloblastic leukemia with a fulminant course very shortly after surgery and chemotherapy for a mixed germ cell tumor of the ovary. The karyotype (46, XY, 47, XY + 8) suggested de novo rather than therapy-associated leukemia. The relationship between germ cell tumors and leukemia, their common yolk sac derivation and the role of the Y chromosome are discussed. The idea that XY gonadal dysgenesis may be familial also is discussed.

Adolescent↗
PubMed1991

Subgroups of uterine leiomyomas based on cytogenetic analysis.

Chromosomes from 39 cases of benign uterine leiomyomas were studied. Consistent chromosomal abnormalities were detected in 15 cases (38.5%). Abnormalities involving chromosomes 12 and 14 with or without additional chromosomal changes were found in five cases (12.8%). Deletion of chromosome 7 was detected in five cases; in three cases (7.6%), this was the only abnormality present. Complex translocations involving X, 5, and 14 as well as X, 3, and 14 were observed in one case each. Insertion of a portion of chromosome 4 to chromosome 1, deletion involving chromosome 3, and nonreciprocal translocation between chromosomes 14 and 15 were observed in one case each. Monosomy 22, with a derived chromosome 14, was observed in one case. Trisomy 7 was also identified in one case. The structural and numeric abnormalities involved chromosomes X, 1, 2, 3, 4, 5, 6, 7, 9, 10, 12, 13, 14, 15, and 22. A normal 46,XX stem line with one or two abnormal cells was observed in 20 cases. Only normal karyotypes were obtained in the remaining four cases. A review of the literature and the results of our study indicate that uterine leiomyomas may be divided into eight groups based on cytogenetic analysis.

Chromosome Aberrations↗
PubMed1991

Deletion of chromosome 13 in leiomyomas of the uterus.

We report two cases of leiomyomas of the uterus with a deletion of the long arm of chromosome 13. To our knowledge this cytogenetic abnormality as a single change has not been reported previously. One of our cases showed a del(13)(q14q32) and the other a del(13)(q13q33). We discuss the cases and compare our findings with previous ones reported in the literature.

Adult↗
PubMed1991

Nonrandom cytogenetic changes in leiomyomas of the female genitourinary tract. A report of 35 cases.

Cytogenetic analysis of short-term cultures from 35 leiomyomas of the female genitourinary tract showed abnormal karyotypes in 14 cases. In 11 of 14 aberrant tumors, normal cells were also observed. Structural changes were most frequent, resulting in modal chromosome numbers in the diploid range. Our data confirm preferential breakpoint clusters at 7q, 12q14-15, and 14q23-24, mainly resulting from consistent, specific chromosome rearrangements such as t(12;14)(q14-15;q23-24) and del(7)(q21) or del(7)(q22q32). Together with previously published cases, we describe trisomy 12, ring chromosomes, and monosomy 22 as new additional recurrent findings in myomas. Statistical analyses of possible coherencies between tumor karyotype (abnormal versus normal) and clinicopathologic data, as well as age of the patients, menopausal status, and tumor size showed no correlations.

Adult↗
PubMed1991

Squamous cell carcinoma in situ arising in an ovarian mature cystic teratoma. Report of one case with histopathologic, cytogenetic, and flow cytometric DNA content analysis.

A squamous cell carcinoma in situ arose in an ovarian mature teratoma (ie, dermoid cyst) in a 62-year-old woman. Flow cytometric DNA content analysis of paraffin-embedded in situ carcinoma showed a normal DNA content with moderate to high proliferative activity (S-phase fraction estimate, 16% to 18%). Cytogenetic analysis of the in situ cancer and the benign cystic portion of the tumor revealed a 46,XX karyotype. In addition, the benign cystic portion of the tumor revealed homozygous chromosomal heteromorphisms, compared with heterozygous markers found in peripheral blood lymphocytes. These results show that this squamous cell carcinoma in situ was euploid and suggest that the mature cystic teratoma was derived from a single germ cell after meiosis I.

Carcinoma in Situ↗
PubMed1990

Rearrangement of band 10q22 in leiomyoma and leiomyosarcoma of the uterus.

Cytogenetic analysis of a uterine leiomyoma from a 56-year-old woman revealed an interstitial deletion of chromosome 10, del(10)(q22q24), as the only chromosomal abnormality. Band 10q22 was also rearranged in a previously reported leiomyosarcoma of the uterus showing a t(10;17)(q22.1;p13) as the only change. These findings provide an additional example in soft tissue tumors for involvement of the same chromosomal regions in benign and malignant proliferation of cells from the same lineage.

Chromosome Banding↗
PubMed1990

The physical organization of the human immunoglobulin heavy chain gene complex.

Two dimensional DNA electrophoresis (2D-DE) was used to map the variable (VH) region of the human heavy chain immunoglobulin gene cluster. Seventy-six VH gene segments were mapped to specific SfiI, BssHI and NotI fragments by 2D-DE. We have determined that a common insertion/deletion polymorphism of 80 kb, involving three VH gene segments, occurs in the VH region. The physical map suggests that the evolution of the human IGH gene complex involved duplication of blocks containing different VH families. This physical map will allow comparison of the usage of VH loci in human ontogeny with their proximity to the CH region. Knowledge of the germline repertoire of a particular DNA source studied in essential as the number of the dispersed VH gene segments of VH families, especially of the VH5 family, is variable. 2D-DE, as illustrated here for the IGH gene cluster, has general application in the development of large scale physical maps of gene and repeat families.

Chromosome Deletion↗
PubMed1990

Correlation between pathologic and ultrasound findings in first trimester spontaneous abortions.

We compared the pathologic and ultrasonographic findings of 31 first trimester spontaneous abortions to determine the benefits of such studies. The ultrasound diagnoses included empty gestational sac (n = 11), intrauterine fetal death (n = 11), abortion in progress or incomplete abortion (n = 8), and live embryo (n = 1). Two subgroups of empty sacs were identified by pathologic examination. Embryonic development appeared to be more advanced in one group as indicated by the presence of embryonic red blood cells (RBC's) in the placental vessels. Although an embryo or fetus was identified more frequently by sonar than by pathologic examination, we were able to diagnose developmental anomalies in small embryos that current ultrasound equipment cannot resolve. Such anomalies were identified even in the presence of fetal heart activity. Pathologic examination was also informative when heavy bleeding obscured the contents of the uterine cavity to sonar and was thus supplementary of a suboptimal ultrasound examination. Placental examination proved to be reliable in assessing gestational age at the time of embryonic/fetal death. There was a good correlation between RBC morphology and sonographic measurement of crown-rump length. First trimester ultrasound and pathologic examination of the embryo and placenta are informative and complement each other.

Abortion, Spontaneous↗
PubMed1990

Genetics and biology of human ovarian teratomas. II. Molecular analysis of origin of nondisjunction and gene-centromere mapping of chromosome I markers.

Chromosomal heteromorphisms and DNA polymorphisms have been utilized to identify the mechanisms that lead to formation of human ovarian teratomas and to construct a gene-centromere map of chromosome 1 by using those teratomas that arise by meiotic nondisjunction. Of 61 genetically informative ovarian teratomas, 21.3% arose by nondisjunction at meiosis I, and 39.3% arose by meiosis II nondisjunction. Eight polymorphic marker loci on chromosome 1p and one marker on 1q were used to estimate a gene-centromere map. The results show clear linkage of the most proximal 1p marker (NRAS) and the most proximal 1q marker (D1S61) to the centromere at a distance of 14 cM and 20 cM, respectively. Estimated gene-centromere distances suggest that, while recombination occurs normally in ovarian teratomas arising by meiosis II errors, ovarian teratomas arising by meiosis I nondisjunction have altered patterns of recombination. Furthermore, the estimated map demonstrates clear evidence of chiasma interference. Our results suggest that ovarian teratomas can provide a rapid method for mapping genes relative to the centromere.

Adolescent↗