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J Limon

Publications and source records attributed to J Limon.

At least 73 records · Page 4Linked to original sources

[Specific chromosome aberrations in human soft-tissue tumors and their diagnostic significance].

Recent cytogenetic studies have revealed that several types of benign and malignant human soft tissue tumors are characterized by highly specific chromosome abnormalities. In this article, we review the primary and secondary chromosome aberrations detected in lipoma, uterine leiomyoma, Ewing sarcoma, rhabdomyosarcoma, myxoid liposarcoma, synovial sarcoma, and clear cell sarcoma of tendons and aponeuroses. The primary aberrations are unique for the particular tumor type and therefore are of diagnostic value. Most recent molecular studies indicate that several sarcoma-specific translocations result in the gene fusion and creation of tumor-specific proteins that are novel DNA transcription factors.

Chromosome Aberrations↗

Abnormal karyotypes in three carcinomas of the gallbladder.

Short-term cultures from three carcinomas of the gallbladder were cytogenetically analyzed. All three had an abnormal karyotype. The modal chromosome number was near- or hypertriploid in two tumors and near diploid in the third. Structural rearrangements of chromosomes 1 and 3, loss of material from the long arm of chromosome 18, and loss of chromosome 21 material were common to all three tumors and would seem to be the best candidates for nonrandom karyotypic changes in carcinomas of the gallbladder.

Aged↗

Aberrations of chromosome 22 and polysomy of chromosome 8 as non-random changes in clear cell sarcoma.

Cytogenetic analysis was performed on a primary tumor and a metastatic lesion of a clear cell sarcoma of tendons and aponeuroses (CCS), a rare soft tissue neoplasm of uncertain histopathologic origin. Clonal chromosomal abnormalities resulting in two related clones were found in both tumors. The karyotype was near-triploid with several structural and numerical changes, comprising a der(15;22) (q10;q10). Including the present case, 14 of 15 cases of CCS have had structural or numerical aberrations of chromosome 22 and nine of them (65%) displayed a similar or identical t(12;22)(q13-14;q12-13). Our findings suggest that in the absence of specific t(12;22), other abnormalities of chromosome 22 may be significant. In addition, increased doses of chromosome 8 found in 70% of the tumors strongly suggest a significant role for this chromosome in the development of clear cell sarcoma.

Adult↗

Characteristic karyotypic features in lacrimal and salivary gland carcinomas.

Short-term cultures from 12 non-squamous cell carcinomas (NSCCs) of the head and neck were cytogenetically investigated. Three tumours were acinic cell carcinomas, two adenoid cystic carcinomas, three mucoepidermoid carcinomas, two carcinomas in pleomorphic adenoma, and two adenocarcinomas. Clonal chromosome aberrations were detected in all but one adenocarcinoma. Including our data, a total of 40 head and neck NSCCs with clonal aberrations have been described. Deletions of the long arm of chromosome 6 are the most common aberrations (11/40 cases); they have been detected in all types of NSCC except carcinoma in pleomorphic adenoma. Two aberrations seem to be closely associated with tumour type: t(6;9)(q21-24;p13-23), which has been seen in three of 11 adenoid cystic carcinomas (in two as the sole aberration), and structural rearrangements of 8q12-13, which have been detected in three of four carcinomas in pleomorphic adenoma.

Adenocarcinoma↗

Cytogenetics of astrocytomas.

Cytogenetic and molecular genetic analyses of all grades of human astrocytomas have provided interesting information on the mechanisms of their origin and malignant progression. Specific genetic events such as amplification and deletion are seemingly related to the stages of malignancy of astrocytic tumors. Genetic studies of human astroglial tumors can be significantly valuable as an additional tool in histopathology and in forecasting prognosis of patients.

Astrocytoma↗

[Significance of chromosomal abnormalities in solid tumors of humans].

Solid tumours in man are characterized by acquired genetic rearrangements that, in most cases, can be detected by cytogenetic methods as clonal chromosomal abnormalities. Whereas primary abnormalities contribute to the establishment of the tumour and often are seen as solitary changes, secondary aberrations accrue during clonal evolution. Both abnormalities are nonrandom in distribution. Some primary abnormalities are so characteristic as to be virtually pathognomonic for particular types of solid tumours, eg, t (11;22)(q24;q12) in Ewing's sarcoma, t (9,22)(q22;q12) in extraskeletal myxoid chondrosarcoma, t (X;18)(p11;q11) in synovial sarcoma, and t (12;16)(q13;p11) in myxoid liposarcoma. To these purely cytogenetic data implicating specific genetic changes in carcinogenesis may now be added a growing evidence of molecular specificity emerging from recombinant DNA-studies. It appears that both currently known classes of directly cancer-relevant genes, the dominant oncogenes and the recessive tumour suppressor genes, are located at precisely those genomic sites that are visibly involved in neoplasia-associated chromosomal rearrangements. The importance of cytogenetic characterization of solid tumors is thus twofold. First, the recurrent aberrations provide insight into the pathogenetic mechanisms that are operative. They pinpoint areas of the human genome that carry genes or regulatory sequences whose function is disrupted in neoplastic cells. Second, even before the long-term goal of a more fundamental understanding of the neoplastic process is reached, the cytogenetic aberrations have direct clinical importance. The finding of an acquired clonal chromosomal abnormality identifies the presence of a neoplastic disease, and the specific type of aberration may reveal the true nature of the tumor and thus improve the diagnostic precision.

Chromosome Aberrations↗

Retrospective analysis of prognostic significance of the estrogen-inducible pS2 gene in male breast carcinoma.

BACKGROUND: The estrogen-inducible pS2 gene, originally isolated from a breast cancer cell line, is correlated with hormone-dependent female breast tumors and its expression is associated with longer overall and disease-free survival. METHODS: The authors have investigated 38 samples of carcinomas of the male breast for pS2 expression by using a monoclonal antibody. The immunostaining was compared with clinical data, in particular, to the progesterone receptor status, to assess a possible prognostic value of this parameter. RESULTS: Although most cases (27 of 38) were immunopositive (i.e., above the 5th percentile of immunoreactive cells), no correlation with tumor grade and survival was notable. CONCLUSIONS: Therefore, on the contrary to the situation in female breast cancer, pS2 activity failed to constitute a new prognostic parameter in male breast carcinomas.

Adult↗

Interstitial deletion of the short arm of chromosome 3 as a primary chromosome abnormality in carcinomas of the breast.

Interstitial deletions of the short arm of chromosome 3 were found in short-term cultures of five breast carcinomas (of 41 breast cancers with clonal aberrations analyzed by us during the same period). They were the only clonal structural change in three tumors; in the remaining two, the clone with 3p-coexisted with seemingly unrelated clones that had other structural and numerical aberrations. The deletions were identical, del(3)(p12p14), in four cases. The fifth tumor seemed to have a smaller deletion, interpreted as del(3)(p13p14). Our findings constitute karyotypic evidence that 3p deletions are relatively common in breast carcinomas and concur with the molecular genetic detection of loss of heterozygosity in this chromosome arm. The fact that the deletions were found as solitary changes indicates that loss of genetic information from 3p loci is an early, possibly primary, event in tumorigenesis.

Adenocarcinoma, Mucinous↗

Anhidrotic ectodermal dysplasia gene region cloned in yeast artificial chromosomes.

Anhidrotic ectodermal dysplasia (EDA), an X-chromosomal recessive disorder, is expressed in a few females with chromosomal translocations involving bands Xq12-q13. Using available DNA markers from the region and somatic cell hybrids we mapped the X-chromosomal breakpoints in two such translocations. The breakpoints were further mapped within a yeast artificial chromosome contig constructed by chromosome walking techniques. Genomic DNA markers that map between the two translocation breakpoints were recovered representing putative portions of the EDA gene.

Base Sequence↗

Cytogenetic analysis of 57 primary prostatic adenocarcinomas.

Cytogenetic analysis after short-term culture in vitro of primary tumor samples was attempted in 82 patients with prostatic cancer. Tumor material was obtained by radical prostatectomy or transurethral resection. Successful cytogenetic studies were performed on 57 tumors of which five were well, 30 moderately, and 22 poorly differentiated adenocarcinomas. Only normal karyotypes were found in 24 tumors. Structural nonclonal aberrations were detected in 18 and clonal karyotypic abnormalities in 15 tumors. The most common clonal numerical aberration was loss of the Y chromosome; a missing Y was found in six tumors, in three of these as the sole anomaly. Clonal structural chromosomal rearrangements, usually accompanied by numerical changes, were detected in 12 tumors. The rearrangements involved 18 of the 22 autosomes and the X chromosome. Chromosomes 1, 7, and 10 were most frequently affected. Deletions, duplications, inversions, insertions, and balanced as well as unbalanced translocations were represented. The breakpoints in chromosome 1 were scattered along both the short and long arms with no obvious clustering, whereas those in chromosomes 7 and 10 were clustered at bands 7q22 (two deletions and two duplications in four different tumors) and 10q24 (two translocations, one deletion, and one inversion in four tumors). One additional tumor displayed a derivative chromosome 10 with a breakpoint in 10q23, and one had monosomy 10. Altogether, these abnormalities resulted in loss of 10q24----qter in five tumors. Monosomy 8 and rearrangements of the short arm of chromosome 8 leading to loss of 8p21----pter were seen in four tumors. Double minute chromosomes were found in two tumors.

Adenocarcinoma↗

Improved technique for short-term culture and cytogenetic analysis of human breast cancer.

Various growth media and procedures for tissue disaggregation and culturing were tested with regard to cell attachment, the type of cells to grow out, and the emergence of cytogenetically abnormal clones in cultures of 20 primary breast carcinomas. Clonal chromosome abnormalities were detected in 16 cases (80%). Our findings allow us to suggest a series of modifications of existing culturing and chromosome preparation techniques for breast cancer cytogenetic analysis. The improvements include: (1) combined mechanical and enzymatic disaggregation of the tumor samples, (2) initiation of short-term cultures in plastic flasks that have a Primaria-modified tissue culture surface or have been coated with Vitrogen 100, (3) use of serum-free growth medium, CDM-5, but with temporary (24 hours) enrichment with 20% FBS if rapid cell attachment is not achieved, (4) partial and sequential harvesting of the cultures, and (5) use of minimal volumes of hypotonic and fixative solutions during harvesting.

Aneuploidy↗

Trisomy 12 and 4 in a thecoma of the ovary.

Cytogenetic analysis of short-term tissue culture from a thecoma of the ovary demonstrated the presence of trisomies of chromosomes 12 and 4 in all analyzed cells. Our finding confirms the consistency with which trisomy 12 is observed in benign sex cord/stromal tumors and suggests that trisomy 4 may be a second event in tumorigenesis of thecoma.

Chromosomes, Human, Pair 12↗

Translocation (6;16) in a case of granulosa cell tumor of the ovary.

We performed a cytogenetic study of an ovarian granulosa cell tumor (GCT). Tumor cells showed a translocation (6;16); the full karyotype was 45,XX-6,dic(6;16)(q11;q22)/44,XX,-6,-22,dic(6;16)(q11;q22),-22/46,XX,- 6,dic(6;16)(q11;q22), +dic(6;16)(q11;q22). This is the second case of GCT with structural changes of chromosome 6 leading to loss of 6q material.

Adult↗

High frequency of telomeric associations and chromatid exchanges and breaks in human ovarian carcinoma.

Cytogenetic analysis of an unselected series of twenty human serous adenocarcinomas and undifferentiated carcinomas of the ovary revealed the presence of telomeric associations (tas) and unstable chromosomal aberrations, including chromatid-type exchanges (cte) and breaks (ctb) in high proportion of tumors studied. Tas and cte & ctb were present in 75% and 55% of tumors, respectively. Involvement of different chromosome telomeres in tas seemed to be random. This is the first report describing telomeric associations in ovarian cancer. Our findings suggest that the frequency of extensive spontaneous chromosome breakage in ovarian carcinoma may be higher than that reported in the literature.

Adult↗

Translocations t(X;7) and t(7;14) in a synovial sarcoma.

Cytogenetic analysis of a metastatic biphasic synovial sarcoma showed two structural abnormalities: t(X;7)(q11 or 12;q32) and t(7;14)(q22;q11.2). This is the first report of a synovial sarcoma without the involvement of either Xp11 or 18q11.

Adult↗

Cytogenetics of synovial sarcoma: presentation of ten new cases and review of the literature.

Cytogenetic study of five biphasic and five monophasic synovial sarcomas revealed the specific abnormality t(X;18) (p11;q11) in eight cases and t(X;15;18) (p11;q15;q11) and t(X;7) (q11-12;q32) in one case each. Additional, secondary aberrations were present in eight of these tumors. By combining our data with information on previously published cytogenetically abnormal synovial sarcomas, we were able to evaluate 32 tumor samples from 29 patients. The modal chromosome number was pseudodiploid or near diploid in 26 of the 32 tumors. A t(X;18) was present in 21 of 29 cases (72%). Complex translocations involving chromosomes X and 18 and another autosome were present in five cases, and one displayed a t(5;18). There was no visible rearrangement of chromosome bands Xp11 or 18q11 in only 2 of the 32 synovial sarcomas. Half of the primary tumors (6 of 12) had the X;18-translocation as the sole abnormality. Of the remaining 20 specimens from recurrent or metastatic tumors (in three cases two tumors could be analyzed), only one had t(X;18) as the sole change. The secondary aberrations in cases exhibiting clonal evolution were also generally more extensive in the metastatic and recurrent than in the primary sarcomas (five additional aberrations per case, compared with two). Chromosomes 1 and 12 were the chromosomes most frequently (one fourth of the cases) involved in additional structural changes, but with several different breakpoints. No differences were identified between the karyotypic profiles of monophasic and biphasic synovial sarcomas.

Adolescent↗

AgNOR staining in benign hyperplasia and carcinoma of the prostate.

We have modified existing techniques for silver staining of nucleolar organizer regions of intact interphase cells by hypotonic swelling and by formic acid treatment to reduce background staining. This allowed the microscopic identification and counting of individual AgNORs in the nucleoli. The method was used on nine adenomatous prostatic samples (including one of normal prostate tissue outside a localized tumor) and on seven prostatic adenocarcinomas. In general, the adenomatous samples displayed fewer AgNORs (mean 13 dots/cell) than did the carcinomas (mean 24 dots/cell). Although no cells with very high AgNOR counts were found in specimens from nonmalignant tumors, two of the adenomatous prostates did have AgNOR profiles that to a large extent overlapped with those of carcinomas. A highly differentiated carcinoma (of which only very small amounts were present in the sample) had low AgNOR counts. The three moderately differentiated carcinomas had more silver-positive material than the nonmalignant prostates but less than the three poorly differentiated carcinomas. The latter tumors also had a substantial proportion of cells with greater than 60 AgNOR counts, something that was never seen in carcinomas with higher differentiation. The data indicate that analysis of silver staining-positive material in intact interphase cells may help distinguish between benign and malignant prostatic tumors and between highly malignant and low malignant carcinomas.

Adenocarcinoma↗