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S Heim

Publications and source records attributed to S Heim.

At least 163 records · Page 9Linked to original sources
PubMed1993

Clonal karyotypic evolution in an embryonal rhabdomyosarcoma with trisomy 8 as the primary chromosomal abnormality.

An embryonal rhabdomyosarcoma was analyzed cytogenetically. In primary cultures fed a serum-containing medium, 11 clones with karyotypic abnormalities were found. One had trisomy 8 only. The other 10 clones had trisomy 8 as well as additional evolutionary changes that included trisomy for part or all of chromosome 2, isochromosomes for the short and long arms of chromosome 11, isochromosomes for the long arm of chromosome 8, and extra copies of chromosome 8, some of which had an interstitial deletion in 8q. In those primary cultures that had grown in a chemically defined, serum-free medium and in all passaged cultures, trisomy 8 was the only aberration. Our findings and a survey of published information point to gain of one chromosome 8 as a frequent primary karyotypic abnormality in embryonal rhabdomyosarcomas. Trisomy for part or all of chromosomes 2 and 11 and additional gains of chromosome 8 material seem to be common secondary changes.

Abdominal Neoplasms↗
PubMed1993

Mapping of the 19p13 breakpoint in an ovarian carcinoma between the INSR and TCF3 loci.

Chromosome rearrangements involving band 19p13 have been described in about half of all ovarian carcinomas. Four ovarian carcinomas with translocations of 19p13 were investigated with 11 DNA probes for markers localized to this band. All markers exhibited normal restriction patterns, suggesting that they were not rearranged. The 19p13 breakpoint of one tumor was mapped to a location between the INSR and the TCF3 loci.

Carcinoma↗
PubMed1993

Simple numerical chromosome aberrations in two pituitary adenomas.

Cytogenetic analysis of short-term cultures of one non-secreting and one prolactin-producing pituitary adenoma revealed simple clonal numerical abnormalities in both tumors. The karyotype of the non-secreting adenoma was 48,XX, +4, +9[42]/49,XX, +4, +9, +20[2]/46,XX[6]. In the prolactin-secreting adenoma, three aberrant clones were detected, giving the karyotype 45,X, -Y[20]/47,XY, +Y[6]/45,XY, -21[3]/46,XY[21]. One cell had the chromosome complement 46,X, -Y, +9; no other nonclonal aberrations were detected. The only hitherto published case of pituitary adenoma analyzed by banding techniques (Rey et al. [1986]: Cancer Genet Cytogenet 23:171-174) also had only numerical clonal changes that included extra copies of chromosome 9. We conclude that pituitary adenomas may be karyotypically characterized by numerical aberrations and that trisomy 9 seems to be the best candidate for a primary chromosomal anomaly.

Adenoma↗
PubMed1993

Cytogenetic analysis of six bronchial carcinoids.

Short-term cultures from four typical and two atypical primary bronchial carcinoids were cytogenetically analyzed. A lung metastasis from one of the atypical carcinoids was also analyzed. Of the four typical carcinoids, two had normal chromosome complements, while the other two had the karyotypes 46,X, -X, +7/47,XX, +7/47,XX, +X/46,XX and 47,XX, +7/46,XX. Both atypical carcinoids had chromosome abnormalities. One had the karyotype 45-46,X, -X,del(1)(q32),add(17)(p13), +add(19)(p13), -22, +r/47,XX, +X. The second carcinoid had the karyotype 78-81,XXY, +Y, +1,t(2;8)(q21;q24), +3, +4, +del(4) (q25), +5, +6,der(6)t(6;6)(q21;p21)x2, +7, +7, -10,add(14)(p11-13), +19, -21, +1-4mar. The metastasis from this carcinoid had the same aberrations, except that the del(4)(q25) had been lost and one to two markers had been gained.

Bronchial Neoplasms↗
PubMed1993

Karyotypic abnormalities in tumours of the pancreas.

Short-term cultures from 20 pancreatic tumours, three endocrine and 17 exocrine, were cytogenetically analysed. All three endocrine tumours had a normal chromosome complement. Clonal chromosome aberrations were detected in 13 of the 17 exocrine tumours: simple karyotypic changes were found in five carcinomas and numerous numerical and/or structural changes in eight. When the present findings and those previously reported by our group were viewed in conjunction, the most common numerical imbalances among the 22 karyotypically abnormal pancreatic carcinomas thus available for evaluation turned out to be, in order of falling frequency, -18, -Y, +20, +7, +11 and -12. Imbalances brought about by structural changes most frequently affected chromosomes 1 (losses in 1p but especially gains of 1q), 8 (in particular 8q gains but also 8p losses), and 17 (mostly 17q gain but also loss of 17p). Chromosomal bands 1p32, 1q10, 6q21, 7p22, 8p21, 8q11, 14p11, 15q10-11, and 17q11 were the most common breakpoint sites affected by the structural rearrangements. Abnormal karyotypes were detected more frequently in poorly differentiated and anaplastic carcinomas than in moderately and well differentiated tumours.

Aged↗
PubMed1993

Recombinations of chromosomal bands 6p21 and 14q24 characterise pulmonary hamartomas.

Cytogenetic analysis of short-term cultures from seven pulmonary hamartomas revealed an abnormal karyotype in six of them. The most characteristic aberration was an exchange of material between 6p21 and 14q24, found in three tumours. Abnormalities of either 6p or 14q were seen in another two hamartomas. Other regions that were rearranged more than once were 12q (three times) and 17p (twice), sometimes in exchange with 6p or 14q and giving rise to complex derivative chromosomes. Only one tumour had aberrations that did not involve 6p, 12q, 14q, or 17p. These results-together with the data on three previously reported pulmonary hamartomas, two of which also had t(6;14)-show that recombinations between 6p21 and 14q24 are common, and hence probably pathogenetically important. The data support the view that these tumours are genuine neoplasms rather than developmental anomalies. The coexistence of a common 14q24 breakpoint in uterine leiomyomas and pulmonary hamartomas indicates that a gene important in the genesis of both tumours exists in this band.

Adult↗
PubMed1993

Clinical impact of breakpoint position within M-bcr in chronic myeloid leukemia.

We have analyzed the M-bcr breakpoint position in 133 Philadelphia-positive chronic myeloid leukemia patients and correlated the findings with clinical, hematologic, and cytogenetic data. We also investigated the splicing pattern of the BCR-ABL mRNA in 30 patients, using reverse transcriptase PCR. No statistically significant differences were found between breakpoint position within M-bcr and clinical parameters at diagnosis, the karyotypic evolution pattern, or the leukemic phenotype during blast crisis. Furthermore, the breakpoint position within M-bcr did not correlate with the duration of chronic phase or survival time. When the splicing pattern of the BCR-ABL mRNA was compared with the results of the genomic breakpoint mapping, it was found that approximately 60% (8/14) of the patients with a 5' break expressed b2a2 fusion mRNA, whereas all patients (10/10) with a 3' break expressed b3a2 BCR-ABL mRNA.

Adolescent↗
PubMed1992

["Psychogenic" bulbar paralysis].

This 58-year-old female presented with a history of difficulties in swallowing for 30 years. No diagnosis was made in spite of repeated investigations including barium-contrast radiography. A probative strumectomy and psychotherapy were unsuccessful. After an episode of major depression the swallowing disturbances increased. In addition the patient complained of mastication difficulties and was dysarthric. Finally, neurological examination and neurophysiological studies established the diagnosis of progressive bulbar palsy.

Bulbar Palsy, Progressive↗
PubMed1992

Pseudodiploid karyotypes in adenosquamous carcinomas of the lung.

Pseudodiploid karyotypes with clonal structural rearrangements were observed in short-term cultures from two adenosquamous carcinomas (ASC) of the lung, a tumor type hitherto virtually uncharacterized cytogenetically. The karyotypes were 46,XX,der(1)t(1;14)(q44;q22),add(9)(q34) in the first tumor and 46,XX,i(17)(q10) in the second tumor. We suggest that ASC of the lung differ from other lung cancers by having pseudodiploid instead of massively aneuploid tumor stemlines.

Aneuploidy↗
PubMed1992

Trisomy 7 in nonneoplastic focal steatosis of the liver.

Cytogenetic analysis of short-term cultures of a nonneoplastic focal steatosis of the liver showed trisomy 7 as the sole chromosomal change. This finding, especially when viewed in light of previous reports describing +7 in nonneoplastic tissues, strongly suggests that trisomy 7 cannot be considered a tumor-specific abnormality when it occurs as the only change. The cell type in which +7 is present is not yet known.

Adult↗
PubMed1992

Cytogenetic analysis in the diagnosis of acute leukemia.

Acute leukemias 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 leukemia and often are seen as solitary changes, secondary aberrations accrue during clonal evolution. Both abnormalities are nonrandom in distribution. The pattern differs between acute lymphocytic leukemia (ALL) and acute nonlymphocytic leukemia (ANLL) and from subtype to subtype. Some abnormalities are so characteristic as to be virtually pathognomonic for particular types of leukemia. The importance of cytogenetic characterization of leukemias is thus two-fold. 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 in hematopoietic cells identifies the presence of a neoplastic disease. The aberration profile may reveal whether the patient has ALL or ANLL and which subtype it is. Remission and relapse can be monitored by cytogenetic analyses. Finally, the karyotypic pattern is an independent prognostic parameter that should be considered when the choice of therapy is made.

Chromosome Aberrations↗
PubMed1992

Nonrandom chromosomal rearrangements in pancreatic carcinomas.

Short-term cultures were initiated from 20 carcinomas of the pancreas, 17 of which could be successfully cytogenetically analyzed. In eight carcinomas, only normal karyotypes were detected, probably representing dividing stromal cells. Three cases had -Y as the sole anomaly, which also may have occurred in cells that do not belong to the tumor parenchyma. Massively rearranged karyotypes with modal chromosome numbers in the triploid (five cases) and diploid-triploid (one case) ranges were found in the remaining six carcinomas. Structural rearrangements, including deletions and unbalanced translocations, of the long arm of chromosome 6, involving bands q13 and q15 twice and q11 and q16 once, occurred in four tumors. All of these aberrations led to loss of chromosome material from 6q, always involving 6q15. Deletions and unbalanced translocations of the short arm of chromosome 1 also were found in four cases, affecting band p32 in three of them. In all four cases, the abnormalities resulted in loss of genetic material distal to 1p32. Chromosome 17 was involved in structural aberrations in three cases, twice as unbalanced translocations leading to loss of 17p material. Deletions of the short arms of chromosomes 3 and 8 were detected in two carcinomas. The most consistent numerical abnormalities were +2, +10, +11, +14, and tetrasomy 20, which were seen in all six cases. The findings suggest that structural rearrangements, or loss, of genes located on 1p, 3p, 6q, 8p, and 17p are of pathogenetic importance in pancreatic carcinogenesis.

Aged↗
PubMed1992

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↗
PubMed1992

Chromosome aberrations in 35 primary ovarian carcinomas.

Cytogenetic analysis was performed on short-term cultures of primary ovarian carcinomas from 62 patients. Cytogenetic analysis was successful in 59 cases. Clonal chromosome aberrations were detected in 35 tumors. Only numerical changes or a single structural change were found in five carcinomas: trisomy 12 was the sole anomaly in two tumors, one tumor had the karyotype 50,XX, + 5, + 7, + 12, + 14, a fourth tumor had a balanced t(1;5), and the fifth tumor had an unbalanced t(8;15). The fact that four of these five carcinomas were well differentiated suggests that simple karyotypic changes are generally characteristic of these less aggressive ovarian tumors. The majority of the cytogenetically abnormal tumors (n = 30) had complex karyotypes, with both numerical and structural aberrations and often hypodiploid or near-triploid stemlines. The numerical imbalances (comparison with the nearest euploid number) were mostly losses, in order of decreasing frequency -17, -22, -13, -8, -X, and -14. The structural aberrations were mostly deletions and unbalanced translocations. Recurrent loss of genetic material affected chromosome arms 1p, 3p, 6q, and 11p. The breakpoints of the clonal structural abnormalities clustered to several chromosome bands and segments: 19p13, 11p13-15, 1q21-23, 1p36, 19q13, 3p12-13, and 6q21-23. The most consistent change (16 tumors) was a 19p + marker, and in 12 of the tumors the 19p + markers looked alike.

Adult↗
PubMed1992

Trisomy 2 as the sole chromosomal abnormality in a hepatoblastoma.

Short-term cultures of a fine-needle aspirate from a hepatoblastoma were analyzed cytogenetically. Trisomy 2 was found as the sole abnormality, yielding the karyotype 47,XY, + 2/46,XY. Because trisomy for all or part of chromosome 2 has been described, although together with other aberrations, in seven of the 11 hepatoblastomas hitherto reported, the finding of + 2 as the only anomaly in the present case strongly indicates that additional chromosome 2 material is of pathogenetic significance in this tumor type.

Carcinoma, Hepatocellular↗
PubMed1992

Clonal structural chromosome aberrations in nonneoplastic cells of the skin and upper aerodigestive tract.

Cytogenetic analyses of tumors of the skin and upper aerodigestive tract have repeatedly revealed small, pseudodiploid clones characterized by balanced structural rearrangements and a high frequency of cells with nonclonal structural aberrations. However, the lack of common cytogenetic denominators within the different histologic subtypes, the discrepancy between cytogenetic findings and data obtained from flow cytometric DNA content studies, and the occasional identification of tumors with massively rearranged karyotypes indicate that the chromosome rearrangements present in pseudodiploid cells have little to do with the tumorigenesis or progression. Further support for this conclusion, and indirect evidence that the pseudolipid clones probably do not represent the tumor cell populations, derives from the present study in which clonal and nonclonal structural rearrangements were also found in short-term cultures from nonneoplastic skin and pharyngeal mucosa. It is possible that the aberrations are present in subepithelial fibroblast that have accumulated DNA damage due to extensive exposure to potentially carcinogenic agents.

Adult↗