Search PubMed⌕ Search

Biomedical subjects

N Mandahl

Publications and source records attributed to N Mandahl.

At least 289 records · Page 16Linked to original sources
PubMed1988

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↗
PubMed1988

Multiple karyotypic rearrangements, including t(X;18)(p11;q11), in a fibrosarcoma.

The tumor stem line of a soft tissue fibrosarcoma, histologic malignancy grade III, had 43 chromosomes with several clonal chromosome aberrations, including the three balanced translocations t(X;18)(p11;q11), t(2;15)(p23;q26), and t(7;22)(q11;q13), two partly identifiable marker chromosomes, der(3)dic(3;?)(p11;?) and der(5), one small marker of unknown origin, and loss of one chromosome #11, #18, #19, and #21.

Adult↗
PubMed1988

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↗
PubMed1988

Complex chromosome rearrangements in an extraabdominal desmoid tumor.

Cytogenetic studies of an extraabdominal desmoid tumor revealed karyotypic abnormalities in 20 of 50 analyzed metaphases, with no less than 13 clonal marker chromosomes, 11 of which could be at least partially identified. The hypodiploid stemline karyotype was interpreted as: 43-45,XX,-1,-1, + der(1)(?::1p36----1q21::?) + der(1)t(1;?)(p11;?), + der(1) (1pter----1p31::1p11----1cen----1q32::?),- 3,del(3)(p12), + der(3)t[del(3)(p12);?](q25;?), + der(6) t(6;?)(q15;?),-8,-9,-9,-10, + der(10)t(10;?)(p13;?),-12, + der(12)(?::12q14----12q23::?), -13, -13,-15,-19,dic(21;22)(p13;q13),-21, + der(21)t(21;?)(p13;?),-22, + der(22)t(22;?)(q13;?), + 1-3mar/46,XX. This finding of clonal chromosome rearrangements strongly suggests that extraabdominal desmoid tumor is a neoplastic disease.

Adult↗
PubMed1988

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↗
PubMed1988

Multiple apparently unrelated clonal chromosome abnormalities in a squamous cell carcinoma of the tongue.

We have cytogenetically examined short-term cultures from a squamous cell carcinoma of the tongue, a tumor type in which chromosome aberrations hitherto have not been reported. No less than 12 pseudodiploid clones were detected, giving the tumor karyotype 46,X,der(X)t(X;1)(q26;p32),der(1)(Xqter----Xq26::1p32 ----cen----1q42:), del(13)(q11q21),t(15;?) (q26;?)/46,XX,t(1;?)(p34;?),inv(2)(p21q11)/46,XX,t(1;10)(p32;q24)/ 46,XX, + der(1)(12pter----12p11::1p11----cen----1q32:: 11q13----11q22::1q32----1q42:), del(11)(q13q22), -12, der(17)t(1;17) (q42;p13)/46,XX,inv(1)(p22q44)/47,XX,del(1)(q32),der(17)t(1; 17)(p22;q25), der(1)inv(1) (q25q44)t(1;17)(p22;q25),ins(14;7)(q11;q22q36), + 14/46,XX,t(1;4)(q23;q35)/46, XX,t(1;21) (q25;q22),t(2;10)(q31;q26),t(22;?)(q12;?)/46,XX,del(1)(q32)/46,XX, t(1;8)(q44;q21)/46,XX, t(2;21)(q11;p11)/46,XX,t(9;11)(q34;q13). The large number of apparently unrelated abnormalities leads us to suggest that the carcinoma may have been of multiclonal origin.

Aged↗
PubMed1988

Bone marrow karyotype and prognosis in primary myelodysplastic syndromes.

Bone marrow karyotype, survival time, and the rate of progression to leukaemia were studied in 111 unselected patients with primary myelodysplastic syndromes. The 49 patients (44%) with clonal chromosome aberrations had survival time (median 29 months) similar to that found in the 62 patients with normal bone marrow karyotype (24 months, p greater than 0.10). The presence of multiple (greater than 2) abnormalities (17 patients) was strongly associated with poor prognosis, with a median survival of only 7 months (p less than 0.001). Prognostic information could be attributed to 2 specific abnormalities, del(5q) and -7: Presence of del(5q) as the sole anomaly was associated with long survival (36+ months), whereas monosomy 7 was a bad prognostic sign (6 months). The risk for leukaemia development correlated neither with the number of chromosome abnormalities nor with any particular anomaly. Our findings demonstrate the prognostic importance of quantifying the complexity of bone marrow chromosome changes. They also emphasize that different specific abnormalities convey widely different prognostic information in primary myelodysplastic syndromes.

Bone Marrow↗
PubMed1988

Chromosome localization of the human oncogene INT1 to 12q13 by in situ hybridization.

The human oncogene INT1 has been mapped to chromosome band 12q13 by in situ hybridization. The precise localization of this gene is of particular interest, since the region 12q13----q14 has been reported to be involved in chromosomal rearrangements in lipomas, myxoid liposarcomas, pleomorphic adenomas, and myomas. The involvement of this region in both benign and malignant tumors suggests a common pathogenetic pathway in which changes affecting INT1 may be an important step.

Chromosome Mapping↗
PubMed1988

Amplification of the human putative oncogene INT1 in primary retinoblastoma tumors.

We report the amplification of the putative oncogene INT1 in two of four retinoblastomas. In one case, the INT1 signal was amplified 10 to 15-fold, in the other 100-fold. In both cases there were signs of increased tumor aggressiveness with invasion of the choroid and development of metastases. The two cases without INT1 amplification had neither metastases nor locally invasive growth. Our findings indicate that INT1 amplification may be a feature of increased malignant potential in retinoblastomas.

Blotting, Southern↗
PubMed1988

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↗