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G Bardi

Publications and source records attributed to G Bardi.

At least 55 records · Page 3Linked to original sources
PubMed1995

Chromosome analysis of 97 primary breast carcinomas: identification of eight karyotypic subgroups.

Chromosome banding analysis of 97 short-term cultured primary breast carcinomas revealed clonal aberrations in 79 tumors, whereas 18 were karyotypically normal. In 34 of the 79 tumors with abnormalities, two to eight clones per case were detected; unrelated clones were present in 27 (34%) cases, whereas only related clones were found in seven. These findings indicate that a substantial proportion of breast carcinomas are of polyclonal origin. Altogether eight abnormalities were repeatedly identified both as sole chromosomal anomalies and as part of more complex karyotypes: the structural rearrangements i(1)(q10), der(1:16)(q10;p10), del(1)(q11-12), del(3)(p12-13p14-21), and del(6)(q21-22) and the numerical aberrations +7, +18, and +20. At least one of these changes was found in 41 (52%) of the karyotypically abnormal tumors. They identify a minimum number of cytogenetic subgroups in breast cancer and are likely to represent primary chromosome anomalies in this type of neoplasia. Other candidates for such a role are translocations of 3p12-13 and 4q21 with various partner chromosomes and inversions of chromosome 7, which also were seen repeatedly. Additional chromosomal aberrations that give the impression of occurring nonrandomly in breast carcinomas include structural rearrangements leading to partial monosomies for 1p, 8p, 11p, 11q, 15p, 17p, 19p, and 19q and losses of one copy of chromosomes X, 8, 9, 13, 14, 17, and 22. The latter changes were seen consistently only in complex karyotypes, however, and we therefore interpret them as being secondary anomalies acquired during clonal evolution.

Breast Neoplasms↗
PubMed1995

Cytogenetic findings in uterine epithelioid leiomyomas.

Epithelioid leiomyomas of the uterus, unlike ordinary leiomyomas, show substantial epithelial differentiation. No chromosome abnormalities have been reported in uterine epithelioid leiomyomas before. We analyzed short-term cultures from five such tumors and detected abnormal karyotypes in four. A del(7) (q21.2q31.2) was found in two tumors, in one as the only change and in the other as a secondary aberration acquired during clonal evolution. Rearrangement of chromosomal band 12q15, another of the cytogenetic hallmarks of ordinary uterine leiomyomas, was seen in the form of a t(10;12) in one tumor. Band 17q21 was involved in structural aberrations in two cases. The data we present indicate that epithelioid leiomyomas are fundamentally similar cytogenetically, and hence presumably also pathogenetically, to the much more common smooth muscle-differentiated uterine myomas. The only differences hinted at are that epithelioid tumors may be karyotypically more complex and more often have rearrangements of 17q21.

Adult↗
PubMed1995

Near-diploid karyotypes with recurrent chromosome abnormalities characterize early-stage endometrial cancer.

Cytogenetic investigation was attempted on 15 endometrial tumors. Whenever possible, a combination of direct harvesting and short-term culture (with or without prior methotrexate synchronization) was used. The analysis was successful in 13 cases: 12 carcinomas of stage I and one atypical hyperplasia. Clonal abnormalities were found in 10 tumors, whereas the remaining three showed a normal karyotype. The modal chromosome number was near-diploid. The abnormal karyotypes contained relatively simple numerical or structural aberrations in all but one tumor, a serous papillary carcinoma with multiple complex changes as well as cytogenetic evidence of intratumor heterogeneity. Gain of 1q, trisomy for chromosomes 2, 7, 10 (this trisomy was shown by in situ hybridization to be present also in a large number of interphase cells), and 12, and loss of chromosome 22 were recurrent aberrations; these are also the cytogenetic anomalies that have been consistently associated with endometrial carcinomas in previous studies. The utilization of both direct harvesting and short-term culture in several cases increased the frequency with which abnormal karyotypes were found; sometimes aberrations were found by the first method but not by the other, and vice versa. Never were different clonal anomalies found by the two approaches in the same case. Synchronization of the cultures generally led to chromosome preparations with more mitoses and of better quality. Again, no different anomalies were found in synchronized and standard cultures from the same tumor.

Chromosome Aberrations↗
PubMed1995

Chromosome analysis of uterine adenomyosis. Detection of the leiomyoma-associated del(7q) in three cases.

Adenomyosis is a uterine disease whose defining characteristic is the presence deep in the myometrium of endometrial glands and stroma. The condition is believed to arise from inordinate downward growth by contiguity from the endometrium rather than from in situ metaplasia or neoplasia. No acquired chromosome abnormalities have been associated with adenomyosis before. We analyzed short-term cultures from three cases and detected in all of them a del(7) (q21.2q31.2), a karyotypic anomaly that has hitherto been found repeatedly only in uterine leiomyomas. The cytogenetic similarity to leiomyoma suggests that the del(7q) was present in the mesenchymal or, more precisely, smooth muscle cells of the adenomyosis lesions. The very fact that clonal chromosome abnormalities were present questions whether the prevailing understanding of adenomyosis pathogenesis is adequate; the cytogenetic data would better fit a model of the disease envisioning the intramyometrial endometrial foci as having arisen through a neoplastic process.

Adult↗
PubMed1994

Karyotypic pattern of pancreatic adenocarcinomas correlates with survival and tumour grade.

The relationship between cytogenetic findings and clinicohistopathological parameters was assessed in 29 patients with pancreatic adenocarcinoma. Karyotypic analysis revealed normal karyotypes (N) in 8 carcinomas and abnormal karyotypes (A) in 21. Within the A group, 8 cases had simple chromosome abnormalities (As), i.e., only one numerical or structural aberration, whereas 13 had complex changes with multiple numerical and structural abnormalities (Ac). No significant differences between the N and A groups were detected in terms of tumour grade, clinical stage, type of surgery performed, tumour site or size or the patient's age and survival. A correlation analysis between groups As and Ac revealed a significant difference with regard to grade, poorly differentiated carcinomas being more frequent in the Ac group. Patients in the Ac group had also a significantly shorter survival time than those in the As group. None of the other potentially prognostic parameters, i.e., grade, tumour site, stage and type of surgery performed, correlated significantly with clinical outcome.

Adenocarcinoma↗
PubMed1994

Clonal karyotypic abnormalities in colorectal adenomas: clues to the early genetic events in the adenoma-carcinoma sequence.

Cytogenetic analysis of short-term cultures from colorectal adenomas revealed acquired clonal chromosome aberrations in 14 of 17 tumors. In 4 adenomas, only numerical changes were found, whereas 10 had structural rearrangements. Trisomy 7 was found as the sole change in one of the tumors and together with other numerical changes in another. A +7 was also present in one case with structural aberrations. Other recurrent numerical aberrations were -14 and -18, both found in 2 adenomas with structural karyotypic changes; in addition, one chromosome 14 was lost in one of the tumors with only numerical changes. The chromosome most often involved in structural aberrations was chromosome 1. In 6 cases, the rearrangements led to changes in 1p, always with loss of material. The breakpoints were at 1p32-36. One adenoma had deletion of 1p as the only change. Other chromosomes that were involved in changes in more than 2 cases were chromosomes 8, 13, and 17. These rearrangements typically led to gain of 8q and 13q and loss of 17p. The adenomas with structural abnormalities were generally larger and had a higher degree of dysplasia than did the adenomas with numerical changes only or those with a normal karyotype. All adenomas with a tubulovillous or villous architecture had structural rearrangements. Our findings confirm that a subset of colorectal adenomas exists that have only numerical chromosome aberrations. They also support our previous conclusion that loss of material from distal 1p is an early event in colorectal tumorigenesis, but that other cytogenetic aberrations follow and typically are present already at the adenomatous stage.(ABSTRACT TRUNCATED AT 250 WORDS)

Adenoma↗
PubMed1994

Complex karyotypic abnormalities in a primary carcinoma of the fallopian tube.

Short-term cultures from a primary carcinoma of the Fallopian tube, a tumor type not characterized before by chromosome banding, were examined cytogenetically. Complex chromosome aberrations were found in all mitoses, yielding the karyotype 41,XX,del(1)(p34),del(2)(q31),i(8)(q10),-9, + dic(9;19)(p13;p13), der(12)t(9;12)(p13;q22),-13,-16,-17,-18,-19,-22, +r [61]/84-86,idemx2[15]. Several of the aberrations in the present case are similar to changes found in adenocarcinomas of other organs, including carcinomas of the ovaries and uterus, indicating pathogenetic similarities between Fallopian tube malignancies and the more common gynecologic cancers.

Adenocarcinoma, Papillary↗
PubMed1994

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↗
PubMed1994

Cytogenetic characterization of a periampullary adenocarcinoma of the pancreas, its liver metastasis, and a cell line established from the metastasis and a cell line established from the metastasis in a patient with Gardner's syndrome.

A cell line was established from a liver metastasis of a periampullary pancreatic carcinoma in a patient with Gardner's syndrome. The primary tumor, the liver metastasis, and passages 6 and 15 of the cell line were characterized cytogenetically. The only aberration common to all samples was a der(15)t(8;15); this was probably the primary chromosomal abnormality. Loss of the short arm of chromosome 19 was also found in all samples but was brought about by different aberrations in the primary tumor and the metastasis. The secondary aberrations characteristic of clonal evolution often included further gain of 8q material but losses from 1p, 6q, and chromosomes 17 and 18, all of which have been seen before in sporadic pancreatic and colorectal carcinomas. This is the first cell line established from a tumor in a Gardner's syndrome patient and also the first characterization of an abnormal tumor karyotype associated with this autosomal dominant cancer syndrome.

Adenocarcinoma, Papillary↗
PubMed1994

Karyotypic changes in phyllodes tumors of the breast.

Cytogenetic analysis of short-term cultures of five phyllodes tumors of the breast-classified as benign (one tumor), borderline malignant (two tumors removed from the same breast in 1991 and 1993), and malignant (two tumors)--revealed clonal changes with simple structural abnormalities in the benign tumor, the borderline malignant tumors, and one malignant tumor in which benign areas and areas of borderline malignancy were also present. In contrast, the malignant tumor without admixed borderline malignant or benign areas had a complex karyotype. The karyotype of the benign phyllodes tumor was 46,XX,del(12)(p11p12)/46,XX,t(8;18)(p11;p11)/46,XX. The first borderline malignant phyllodes tumor had t(3;20)(p21;q13) as the sole abnormality. When the tumor recurred, this was no longer the only clone detected and the tumor karyotype was now 46,XX,t(3;20)(p21;q13)/46,XX,t(9;10)(p22;q22)/46,XX,t(1;8) (p34;q24)/46,XX,del(11)(q22-23)/46,XX. The malignant/borderline malignant/benign tumor had t(1;6)(p34;p22) as the sole clonal abnormality. Finally, the karyotype of the malignant phyllodes tumor which contained no benign or borderline malignant areas was 42,XX,der(1)t(1;4)(q21;q21),der(3)t(3;17)(q29;q21), -4,i(8)(q10), -10, -13,i(13)(q10),der(14)t(1;14)(q21;p11),der(14)t(4;14) (p12;p11), -17/80-90,idemx2, +del(1)(q12), +i(1)(p10), +dic(5;5)(p14;p14), +i(6)(p10), +del(7)(p11), +dup(7)(q11q36), +i(15)(q10),inc/46,XX. The findings indicate some cytogenetic similarities between benign/borderline malignant phyllodes tumors and fibroadenomas of the breast, presumably reflecting similar pathogenetic mechanisms in the two types of mixed-lineage tumors.

Aged↗
PubMed1994

Interrelationship between methodological choices and conceptual models in solid tumor cytogenetics.

Scientific methods and models are interdependent. That the techniques one uses determine which findings one gets, is evident. But equally important is the influence of our a priori expectations; they may cause us to choose inadvertently those methods that are most likely to yield results that appear to confirm an already preconceived picture of reality. The conceptual models and methods of solid tumor cytogenetics are to a large extent inherited from leukemia and lymphoma cytogenetics. We illustrate how this may bias the generation and interpretation of new findings, especially when carcinomas are investigated. These malignant epithelial tumors much more often harbor cytogenetically unrelated clones than do hematologic or mesenchymal neoplasms. Carcinoma cytogenetics is therefore extremely susceptible to selection differences, making the results heavily dependent on which sample is processed, how it is disaggregated, how and for how long the cells are cultured, and on how the analysis is performed and the results presented. This calls for more efforts to be directed toward establishing also the phenotypic nature of those cells that are being karyotyped. As one cannot yet quality-grade most clonal chromosome changes in any reliable manner, meaning that one cannot determine to what extent each aberration or each clone contributes to the neoplastic process, statements about the "true" karyotypes of tumor parenchymas should be viewed with suspicion. A complete carcinoma karyotype may be much more complex than extrapolations from the analysis of a few cells may lead one to believe.

Chromosomes, Human↗
PubMed1994

Cytogenetic analysis of multifocal breast carcinomas: detection of karyotypically unrelated clones as well as clonal similarities between tumour foci.

Cytogenetic analysis was performed on short-term cell cultures of two foci (A and B) from each of three multifocal breast carcinomas. In case I, four clones (three related and one unrelated) were detected in sample A. In sample B, two of the three related clones and the unrelated clone seen in A were found, as was also a third subclone showing a pattern of clonal evolution slightly different from that detected in A. In cases II and III, multiple cytogenetically unrelated clones were found in A and B, with only one clone being shared by both foci in each case. Our finding of cytogenetic similarities between macroscopically distinct tumour lesions indicates that the multifocality reflects intramammary tumour spread rather than the synchronous emergence of pathogenetically independent carcinomas within the same breast. On the other hand, the detection of karyotypic heterogeneity in the form of cytogenetically unrelated clones in all foci suggests that human breast carcinoma may be polyclonal. This polyclonality may be part of the explanation for the cellular heterogeneity commonly seen at the phenotypic level in breast cancer.

Aged↗
PubMed1993

Cytogenetic analysis of 52 colorectal carcinomas--non-random aberration pattern and correlation with pathologic parameters.

Cytogenetic analysis of short-term cultures from 52 colorectal carcinomas revealed a normal karyotype in 13 and clonal chromosome aberrations in 39 tumors. In the abnormal group, 13 tumors had simple numerical changes only, whereas 26 had at least one structural rearrangement with or without concomitant numerical changes. The most common numerical abnormalities were, in order of decreasing frequency, +7, -18, -Y, +8, +13 and -14. The most common structural rearrangements affected, again in order of decreasing frequency, chromosomes 8, 1, 6, 7, 17, 3, 11, 13, 14, 16, 2 and 10. The chromosome bands most frequently involved in the structural changes were 8q10, 17p11, 11q13, 8p11, 6q21, 7p15, 7q36, 12q13, 13q10, and 16q13. The most frequent genomic imbalances brought about by the structural rearrangements were losses from chromosome arms 8p, 1p, 6q, 17p, 7p, and 16q, as well as gains of 7q, 8q, 13q, and 11q. A statistically significant (p < 0.05) correlation between the karyotypic pattern and tumor grade was found, with the poorly differentiated carcinomas generally having more massive chromosomal abnormalities.

Adult↗
PubMed1993

Deletion of 1p36 as a primary chromosomal aberration in intestinal tumorigenesis.

Cytogenetic analysis of short-term cultures from benign intestinal tumors revealed clonal chromosome aberrations in five colorectal adenomas, one adenoma of the papilla Vateri, and one hyperplastic polyp of the rectum. One adenoma had numerical aberrations only, but in all other tumors structural rearrangements were found that led to loss of genetic material from 1p. In three of the cases, the deletion was restricted to the 1p36 band; the rest had lost larger 1p segments. The rearrangement of chromosome 1 was the sole karyotypic anomaly in three adenomas, all with mild or moderate dysplasia, and in the hyperplastic polyp. Both adenomas that had additional aberrations beyond the 1p loss showed severe dysplasia. We conclude that cytogenetically detectable loss of genetic information from 1p36 is an early, seemingly primary, premalignant event in intestinal tumorigenesis. The fact that the adenomas with 1p- as the sole change showed only mild or moderate dysplasia and that the del(1p) was found also in the hyperplastic polyp suggests that this aberration is more related to the induction of hyperproliferation than to differentiation disturbances in the intestinal mucosa.

Adenoma↗
PubMed1993

Cytogenetic aberrations in colorectal adenocarcinomas and their correlation with clinicopathologic features.

BACKGROUND: Little is known about the karyotypes of colorectal carcinomas and, in particular, about how the cytogenetic findings correlate with clinicopathologic features. METHODS: Short-term cultures from 49 colorectal adenocarcinomas were analyzed cytogenetically. The karyotypes were correlated with grade, stage, lymphocytic infiltration, and site (using the chi-square test), with patient age and tumor size (using the Student t test), and with survival (using the log-rank or Mantel-Haenszel test). RESULTS: Normal karyotypes were detected in 17, simple numeric changes in 22, and multiple structural and numeric abnormalities in 10. The most common numeric aberrations were +7, -Y, -18, and -22. The most common structural rearrangements were, in decreasing order of frequency, of chromosomes 1 (eight samples, leading to loss of 1p material in five), 3, 11, 17, 6, 8, 13, and 20. Marked or moderate lymphocytic infiltration was seen significantly less often (P < 0.05) in tumors with complex chromosomal abnormalities than in those with simple anomalies or normal karyotypes. The subset of patients who had tumors with multiple chromosomal abnormalities had a significantly shorter survival time (P < 0.025) than those who had lesions with simple changes or normal karyotypes. CONCLUSIONS: Loss of 1p material is the most consistent chromosomal change in colorectal carcinomas but probably represents a progressional rather than a primary event. Structural changes of chromosomes 3 and 11 seem to be more common in tumors located in the distal part of the large intestine. The significantly shorter survival time of patients with complex aberrations indicates that the karyotype could be used as a prognostic parameter in patients with colorectal cancer.

Adenocarcinoma↗
PubMed1993

Chromosome analysis of 20 breast carcinomas: cytogenetic multiclonality and karyotypic-pathologic correlations.

Short-term cultures from 20 breast carcinomas were analyzed cytogenetically. A normal female chromosome complement was found in 4 cases. Clonal chromosome aberrations were detected in 16 tumors. In 10 tumors, multiple cytogenetic clones were found; in 2 cancers the clones were related, reflecting clonal evolution, but in the remaining 8 tumors the clones were cytogenetically unrelated, indicating clonal heterogeneity in the origin of the tumor parenchyma. Correlation analysis between karyotypic and pathologic parameters indicated that cases with complex karyotypes and/or cytogenetically unrelated clones, when compared with cases with a single simple karyotypic abnormality, were generally of higher histologic malignancy grade, had more mitoses in the histologic sections, and also more often had carcinoma in situ lesions in the same breast.

Aneuploidy↗
PubMed1993

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↗