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M Nilbert

Publications and source records attributed to M Nilbert.

44 records · Page 3Linked to original sources

Complex karyotypic anomalies in a bizarre leiomyoma of the uterus.

Cytogenetic investigation of short-term cultures from a bizarre leiomyoma of the uterus, a tumor type not hitherto karyotypically characterized, revealed two abnormal clones with multiple complex rearrangements. Three-fourths of the aberrant cells were hypodiploid with the composite karyotype 38-44,XX,-6,-7,-10, -11,+20,-22,r(1),der(2)(:2p23----cen----2q13::1q21---- 1qter),der(2)t(2; 9)(p21;q13),t(5;?)(q35;?), t(5;?),(q35;?),+der(5)t(5;15)(q11;q15), der(8)t(8;11)(q24;q13),t(15;?)(p12;?),der(16)t(12;16)(q13;p13),+r,+mar. The remaining abnormal mitoses were hypotetraploid, with chromosome numbers ranging from 74 to 86. These massively rearranged cells showed the same markers that were found in the hypodiploid clone, but in duplicate, indicating that this clone had arisen through polyploidization of hypodiploid cells. Flow cytometry revealed a DNA index of 1.03.

Female↗

Cytogenetic abnormalities in an angioleiomyoma.

We have cytogenetically investigated short-term cultures from an angioleiomyoma. Monosomy for chromosome 13, and one to two small markers were observed in the tumor cells, resulting in the karyotype 46-47,XY,-13,+1-2 mar.

Aged↗

No amplification or rearrangement of INT1, GLI, or COL2A1 in uterine leiomyomas with t(12;14)(q14-15;q23-24).

We have studied three uterine leiomyoma tumors, all previously cytogenetically analyzed and shown to have the clonal abnormality t(12:14)(q14-15;q23-24), with the purpose of detecting amplification or rearrangement of three genes that are localized close to the 12q breakpoint region. The genes studied were the two putative oncogenes INT1 and GLI, and the collagen type II alpha 1 gene, COL2A1. No rearrangement or amplification could be detected for any of the three gene sequences.

Chromosomes, Human, Pair 12↗

Ring formation and structural rearrangements of chromosome 1 as secondary changes in uterine leiomyomas with t(12;14)(q14-15;q23-24).

Cytogenetic analysis of short-term cultures from two uterine leiomyomas revealed, in addition to the primary abnormality, the reciprocal translocation t(12;14)(q14-15;q23-24), secondary structural changes that in both cases included ring chromosomes and rearrangements of chromosome 1. One tumor had the karyotype 46,XX,r(1)(p34q32),ins(8;9)(q13;q13q22),t(12;14)(q14-15;q23- 24). Massive numerical rearrangements were found in the second leiomyoma, with chromosome numbers ranging from 47 to 92. In spite of this variability, two main cell populations could be discerned, one near-diploid, the other hypotetraploid, with most mitoses having chromosome numbers between 80 and 88. These findings were corroborated by flow cytometry, which revealed two peaks corresponding to DNA indexes of 0.97 and 1.77. The structural abnormalities t(1;1)(p31;q44) and t(12;14)(q14-15;q23-24) were present in all karyotypically abnormal cells, and one or more unidentified ring chromosomes were observed in most of the hypotetraploid mitoses. In no cells were double copies of the t(1;1) and t(12;14) rearrangements detected. The similarity between the secondary changes in the cases reported here suggests that clonal evolution in uterine leiomyoma is nonrandom.

Adult↗

Chromosome abnormalities in leiomyosarcomas.

Short-term cultures from seven soft tissue leiomyosarcomas were investigated cytogenetically. Sufficient mitoses for chromosome analysis were obtained in six cases, four of which had only normal karyotypes. In one tumor, an intramuscular leiomyosarcoma of the lower arm, a variety of nonclonal structural and numerical aberrations were found in two thirds of the metaphases. Another tumor, a subcutaneous leiomyosarcoma of the knee, had clonal abnormalities resulting in the karyotype 46,X,der(X)t(X;4)(:Xq26----cen----Xp22::4q23----4qter) , del(4)(q23)/47,X,der(X)t(X;4),del(4)(q23), + 20. Flow cytofluorometric measurements of the DNA content in the six leiomyosarcomas successfully karyotyped revealed diploid values in five tumors. The leiomyosarcoma displaying numerous nonclonal changes had two cytofluorometric peaks, 1.01 and 1.39, indicating that the metaphases available for cytogenetic study cannot have been fully representative of the tumor stemline.

Adult↗

A specific translocation, t(12;14)(q14-15;q23-24), characterizes a subgroup of uterine leiomyomas.

We have cytogenetically investigated short-term cultures initiated from 34 uterine leiomyomas, all of which were histologically completely benign. Clonal chromosome abnormalities were detected in five cases, a normal female complement in 22, whereas, in the remaining seven tumors no karyotype could be established. Apparently identical reciprocal translocations, t(12;14)(q14-15;q23-24), were found as the sole abnormality in four tumors. The fifth abnormal case contained a t(2;14)(p11;p11). We conclude that chromosome aberrations may be found in myomas of the uterus, and that t(12;14)(q14-15;q23-24) characterizes a subset of these tumors.

Chromosome Banding↗

Karyotypic rearrangements in 20 uterine leiomyomas.

Short-term cultures from 106 uterine leiomyomas have been cytogenetically investigated. In 29 cases the number of metaphases was insufficient for analysis. A normal female karyotype was found in 57 tumors and clonal chromosome rearrangements in 20. A reciprocal translocation, t(12;14) (q14----q15;q23----q24), was observed in 10 tumors and probably represents a primary change of tumorigenic importance. In four of the tumors containing this specific anomaly, secondary chromosome changes were also present. The 10 karyotypically abnormal leiomyomas without a t(12;14) had various structural and numerical aberrations involving chromosomes 1, 2, 3, 4, 6, 8, 9, 10, 11, 12, 13, and 19. Different structural changes of chromosome 1 were the second most frequent abnormalities, being found in five tumors. Ring chromosomes were observed in three cases, but never as the sole change.

Animals↗

Preoperative plasma soluble urokinase plasminogen activator receptor as a prognostic marker in rectal cancer patients. An EORTC-Receptor and Biomarker Group collaboration.

BACKGROUND AND AIMS: Since approximately 30% of patients with Dukes' stage B colorectal cancer will experience disease recurrence within five years of primary treatment, current staging of patients with early colorectal cancer apparently fails to adequately predict patient outcome. It has previously been shown that the preoperative plasma concentration of soluble urokinase plasminogen activator receptor (suPAR) is associated with the survival of patients with early colorectal cancer. In this study we sought to confirm the independent prognostic value of suPAR in rectal cancer. METHODS: suPAR was retrospectively determined by two different versions of a suPAR ELISA in preoperatively collected plasma samples from a Swedish (n = 354) and a Danish (n = 255) cohort of rectal cancer patients. RESULTS: In both cohorts the suPAR concentration was significantly higher in Dukes' stage D patients than in Dukes' stage A-C patients (p < 0.0001). Among Dukes' stage A-C patients, no differences in median suPAR values were seen. In univariate analysis, continuous suPAR was found to be associated with survival (p < 0.0001 in both cohorts). Of particular interest was that similar results were obtained for Dukes' stage A and B patients when analyzed separately. In multivariate analysis, continuous suPAR was found in both cohorts to be independent of Dukes' stage. CONCLUSIONS: This study confirms that the preoperative concentration of plasma suPAR contains independent prognostic information on patients with rectal cancer. This result was independent of the two different versions of an in-house suPAR ELISA used to perform the analyses. The next step in the evaluation of suPAR as a prognostic parameter in rectal cancer will be to launch an appropriately dimensioned prospective study where the benefit of applying preoperative plasma suPAR measurement to clinical decision-making regarding adjuvant therapy is assessed.

Adult↗