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Biomedical subjects

U Kristoffersson

Publications and source records attributed to U Kristoffersson.

At least 127 records · Page 7Linked to original sources

Telomeric association in a malignant fibrous histiocytoma.

In a malignant soft-tissue fibrous histiocytoma 50-56 chromosomes were found in the majority of the metaphases. The most frequent numerical aberrations were one or two extra copies of chromosomes 4, 5, 18, 20, 22, and a missing chromosome 15. Structural rearrangements encountered were 11p+ and 1-5 unidentifiable markers. The most conspicuous feature was pairs of chromosomes intimately associated or fused at their telomeres, observed in 20 out of 22 metaphases. Although the telomeres of 6p, 11p, 16q, 20q, and 21p were involved most frequently, no preferential pattern of associations was detectable. This peculiar chromosomal behavior is compared to similar observations recently reported in a case of a B-cell lymphoid leukemia.

Chromosome Aberrations↗

C-band heteromorphism in breast cancer patients.

The pattern of heteromorphism in the C-band-positive constitutive heterochromatin of human chromosomes #1, #9, and #16 was studied in peripheral lymphocytes of 54 breast cancer patients and 78 control individuals. The parameters of the heterochromatic regions analyzed were relative size, symmetry-asymmetry within homologous pairs, and prevalence of inversions. Significant differences between the two groups were found in C-band size of chromosomes #1, #9, and #16 and in incidence of inversions on chromosomes #1 and #9. Significant differences were noted between premenopausal and postmenopausal cancer patients in regard to inversions on chromosome #9 and between familial and sporadic patients in regard to C-band size on chromosome #16.

Adult↗

Variant Ph translocations in chronic myeloid leukemia.

Variant translocations were found in eight of 142 consecutive patients with Ph-positive, chronic myeloid leukemia encountered in our laboratory during the last decade. Two patients had simple, two-way variant translocations: t(17;22)(p13;q11) and t(16;22)(q24;q11). Both of these patients had an additional translocation involving chromosomes #9: t(7;9)(q22;q34) and t(9;17)(q34;q21), respectively. Complex variant translocations were found in four cases: t(2;9;22)(p23q12;q34;q11), t(3;9;22)(p21;q34;q11), t(9;12;22)(q34;q13;q11q13), and t(13;17;22)(p11;p11q21;q11). In two cases, the only discernable cytogenetic aberration was del(22)(q11). A review of the chromosomal breakpoints involved in this series and in 185 cases of variant Ph translocations previously reported in the literature reveals that a disproportionately large number of breakpoints are located in light-staining regions of G-banded chromosomes. Furthermore, the breakpoints in simple variant translocations are more often located in terminal chromosomal regions, whereas, the breakpoints in complex translocations typically affect nonterminal bands. No obvious correlation was detected between variant Ph translocation breakpoints and either fragile sites, oncogene locations, or consistent chromosome breakpoints in other malignancies.

Adult↗

Chromosome analysis in 100 cases of first trimester trophoblast sampling.

The cytogenetic findings in 20 experimental and 80 diagnostic cases of first trimester trophoblast biopsy are presented. All samples were obtained between the 8th and 13th week of gestation with the direct vision, trans-cervical technique. Except when fetal sexing because of X-linked disease was the issue, long-term culture with in situ preparation was the method routinely employed in processing the biopsies for cytogenetic analysis. In 78 of the 80 clinical cases and in all reported experimental cases we were successful in establishing a karyotype from the sampled tissue. Unbalanced karyotypes were found in two experimental and six clinical cases. Tetraploidy was found in one clinical case, but was not confirmed in subsequently sampled amniotic fluid cells. In another clinical case, we were unable to confirm in the aborted placenta the trisomy 18 found in the trophoblast biopsy. In the rest of the induced abortions in the clinical series, the karyotype arrived at prenatally has been confirmed, and the 27 babies so far born have been healthy and with phenotypic sex corresponding to the prenatal findings. Six women have miscarried after sampling; in one of these cases the fetus had the karyotype 47,XX, + 13.

Adult↗

Trophoblast samples suitable for long-term culture.

Chorionic villi were obtained by a direct vision technique. Villi without vessels (38 cases) failed to grow in vitro, irrespective of the amount of tissue. Vascular villi with an estimated weight exceeding 5 mg (71 cases) grew in vitro--with two exceptions.

Biopsy↗

Hypophyseal tumor and gynecomastia preceding bilateral breast cancer development in a man.

The case is reported of a 48-year-old man who, 26 years after treatment for a hypophyseal tumor and 11 years after the onset of bilateral gynecomastia, developed cancer of the left breast. Ten years after the first breast cancer operation a new cancer developed in his right breast. Hormonal investigation at the time of the second breast cancer operation revealed a low S-FSH and a relative estrogen excess compared to testosterone. Values of thyroid and adrenal hormones were essentially normal, while P-prolactin was elevated. Stimulatory tests of the hypophyseal function were in accordance with a partial hypophyseal insufficiency affecting the hypophyseal-gonadal axis. Also, a weak elevation of S-HGH was noted by an insulin tolerance test. Immunohistochemical analysis of the pituitary tumor 36 years later showed that the tumor could be classified as a prolactinoma. Cytogenetic analysis revealed a normal male chromosome karyotype.

Adenocarcinoma↗

First-trimester diagnosis on chorionic villi obtained by direct vision technique.

An improved technique for direct vision chorionic biopsy that gives a clear view of the amniotic sac was developed. With this technique, used in 48 women prior to vacuum aspiration and in six cases for diagnosis (karyotyping or enzyme analysis), it was possible to obtain chorionic villi free from contamination by maternal tissue. It was also possible to pick out villi (rich in blood vessels and with abundant buds on their surface) found to be most capable of growing in vitro. In the diagnostic cases, the pregnancies have continued uneventfully since the sampling; one pregnancy is now in the 32nd week.

Adult↗

Fine needle aspiration biopsy: a useful tool in tumor cytogenetics with special reference to malignant lymphomas.

A methods for chromosome analysis of malignant cells by means of fine needle aspiration biopsy has been developed. The method has some obvious advantages compared to conventional surgical biopsy. During a 1-year period 25 consecutive non-Hodgkin, non-Burkitt lymphoma biopsies from 19 patients have been studied. In 14 out of 21 lymph node biopsies chromosome analysis was successful; whereas, four biopsies of subcutaneous lymphomas were unsuccessful.

Biopsy, Needle↗