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Biomedical subjects

U Kristoffersson

Publications and source records attributed to U Kristoffersson.

At least 91 records · Page 5Linked to original sources
PubMed1988

Multiple structural chromosome rearrangements, including del(7q) and del(10q), in an adenocarcinoma of the prostate.

Cytogenetic analysis of a poorly differentiated adenocarcinoma of the prostate revealed the complex karyotype: 76-86,X, -Y, +X, +X, +del(X)(q24), +t(1;10) (p22;q24), -2, +der(2) t(1;2;?)(p32;q24p13;?), +der(2)t(1;2;?) (p32;dq24p13;?), +3, +3, +4, +5, +5, +6, +7, +del(7) (q22), -8, +der(8)t(8;?)(q24;?), + der(8)t(8;?)(q24;?), +9, +10, +10, +der(10)t (1;10)(q24;q22), +del (10)(q23), +11, +11, +12, +der(12)t(4;12)(q11;p11), +der(12)t(4;12) (q11;p11), +14, +der (15)t(1;15)(q21;p11), +t(16;?) (q21;?), +17, +18, +19, +19, +20, +20, +21, +22, +2-5 mar. The karyotype contains deletions of both 7q and 10q, abnormalities that also have been described previously in prostatic adenocarcinomas, and which hence may represent primary chromosomal rearrangements in this type of cancer.

Adenocarcinoma↗
PubMed1988

Chromosome analysis of a newly established renal carcinoma cell line.

A renal cell carcinoma has been established as a cell line in vitro. Repeated chromosome analyses of the cell line revealed a stable clone with the modal chromosome number 80 and three pairs of marker chromosomes, M1-M3. M1 and M2 resulted from a translocation between a chromosome #3 deleted in band p14 and a normal #7: M1 = der(3)t(3;7) (:3p14----cen----3q24::7q21----7qter), and M2 = der(7)t(3;7)(3qter----3q24::7q21----cen----7pter ). M3 was a small metacentric chromosome, probably consisting of the centromeric portion of a #3: del(3)(:p14----cen----q12:). No other structural changes were present. Our findings are in agreement with those of previous studies, stating that rearrangements of 3p12-14 are primary cytogenetic events in renal cell carcinomas, even though this can only be inferred in this case. Thus, this cell line may be useful for further molecular and biochemical studies.

Aged↗
PubMed1988

Duplication 18p with mild influence on the phenotype.

Duplication 18p was found in a 12-year-old girl whose father carried a balanced translocation involving the same chromosome segment, t(18;21)(p11;p11). Our patient had delayed speech development, mild psychomotor retardation, epilepsy, and minor anomalies, including a low nasal bridge, anti-mongolian eye slant, low-set ears, and narrowly arched palate. These findings are compared with eight previously published cases.

Child↗
PubMed1988

Trisomy 5 and t(5;14)(q11;q32) as the sole abnormalities in two different clones from a centroblastic non-Hodgkin's lymphoma.

A 62-year-old previously healthy woman presented with a centroblastic non-Hodgkin's lymphoma in the thyroid. Chromosome analysis revealed two unrelated clones, 47,XX,+5 and 46,XX,-14,+der(14)t(5;14)(q11;q32). The two clones may reflect a polyclonal origin, or they may be the descendants of the same neoplastically rearranged cell. In the latter case, the clonal aberrations are either secondary to an event detectable only at the molecular level, or one of them is a primary cytogenetic event while the other arose through clonal evolution with loss of the primary aberration. The best candidate for the primary change would be trisomy 5. Trisomy 5 has previously been associated with lymphomas with diffuse, large, noncleaved morphology, a group within the Working Formulation largely equivalent to centroblastic lymphomas in the Kiel classification. Our findings thus support the notion that trisomy 5 may be associated with centroblastic/diffuse, large, noncleaved lymphomas.

Chromosome Banding↗
PubMed1988

What's new in lymphoma cytogenetics?

Non-random chromosome abnormalities have been found in all types of malignant lymphomas. It is obvious that some cytogenetic abnormalities are associated with certain morphological types. Thus, among the Burkitt's lymphomas the 2;8-, 8;14- and 8;22-translocations are found in the great majority of cases; t(14;18) is associated with follicular lymphomas; +12 and t(11;14) with well differentiated lymphomas; and rearrangements of 14q11 and trisomy 3 with T-cell lymphomas. The molecular changes involving the c-myc oncogene and the immunoglobulin loci in Burkitt's lymphoma have been intensively studied. Among other non-Hodgkin's lymphomas the molecular mechanisms behind t(11;14) and t(14;18) in B-cell lymphomas and 14q11 rearrangements in T-cell lymphomas are starting to be unravelled. A number of other aberrations, such as +3, 6q-, and +12, have been associated with non-Hodgkin's lymphoma although the molecular mechanisms behind these rearrangements are still unknown. Very little is known about clinicocytogenetic correlations, but some observations clearly indicate that the karyotypic pattern is an important prognostic factor in non-Hodgkin's lymphoma. Contrary to non-Hodgkin's lymphoma, very little is known about the cytogenetic findings in Hodgkin's disease. The sparse results, however, indicate that there are similarities to those in non-Hodgkin's lymphoma.

Burkitt Lymphoma↗
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

A new specific chromosomal rearrangement, t(11;20)(p15;q11), in myeloblastic leukemia with maturation.

The translocation t(11;20)(p15;q11) was found as the sole acquired clonal chromosome abnormality in two patients with acute myeloid leukemia. The bone marrow morphology in both cases corresponded to the M2 subtype of the French-American-British (FAB) classification. None of the patients achieved complete remission, and both died less than 6 months after diagnosis. This particular translocation has not previously been reported in acute nonlymphocytic leukemia.

Adolescent↗
PubMed1988

Variant translocation t(3;15)(q21;q22) in a patient with acute promyelocytic leukemia.

Bone marrow cells from most patients with acute promyelocytic leukemia contain a highly specific cytogenetic rearrangement, a reciprocal translocation between the long arms of chromosomes 15 and 17. Several cases of variant translocations involving 17q but not 15q have been reported, leading to the suggestion that the break in 17q rather than the one in 15q is the crucial change in the regular t(15;17). We describe a hematologically typical case of acute promyelocytic leukemia with a t(3;15)(q21;q22). This is the first report in this leukemia subset of a variant translocation affecting 15q without involvement of 17q.

Acute Disease↗
PubMed1987

Tetraploid karyotype (92,XXYY) in two patients with acute lymphoblastic leukemia.

Tetraploid karyotypes without structural chromosome abnormalities were found in approximately 50% of the bone marrow cells in two patients with acute lymphoblastic leukemia with L2 morphology and "null cell" immunophenotype. Strict tetraploidy (4n = 92) has not been reported as the sole karyotypic rearrangement in bone marrow neoplasia, but may represent a previously unrecognized cytogenetic leukemia subtype.

Child, Preschool↗
PubMed1987

Late appearing 5q--marker in refractory anemia.

A patient with myelodysplasia indistinguishable from the 5q--syndrome is described. No clonal chromosome abnormalities were detected in the total of 120 bone marrow cells initially examined. At the next sampling, 3 years later, del(5q) was present in all analyzed metaphases. These findings indicate that del(5q) may be only one of the pathogenetically important events in the 5q--syndrome, and that submicroscopic changes may precede the visible chromosomal rearrangement.

Anemia, Refractory↗
PubMed1987

Marker ring chromosome--a new cytogenetic abnormality characterizing lipogenic tumors?

We have analyzed three intramuscular lipomas, two atypical and one with ordinary benign histology, as part of a systematic study of the karyotypic characteristics of mesenchymal tumors. A large ring chromosome of uncertain origin, but possibly representing a rearranged chromosome #3, was found in all three tumors. Previous reports on the chromosome banding pattern in lipogenic neoplasms are restricted to only three cases, all liposarcomas. In one of these, a well differentiated liposarcoma, a ring chromosome was described that was remarkably similar in morphology to the aberration reported here. We conclude that this ring chromosome may constitute a characteristic cytogenetic marker for lipogenic tumors.

Adult↗
PubMed1987

Prognostic implication of cytogenetic findings in 106 patients with non-Hodgkin lymphoma.

The cytogenetic findings in samples from 106 patients with non-Hodgkin lymphomas (NHL), histopathologically classified according to the Kiel classification, have been correlated with survival time. Clonal chromosomal abnormalities were found in 60 patients, and only normal karyotypes in ten. The chromosome analysis of the remaining samples failed. The failures did not differ in survival compared with the cytogenetically successful cases, indicating that this group is not a prognostic entity within NHL. The cytogenetic findings were classified in six ways in order to evaluate the prognostic value of the cytogenetic pattern. Multivariate analysis demonstrated that presence of clonal chromosome abnormalities and the number of aberrations both were important prognostic factors independent of histopathology, whereas, the modal chromosome number, presence of translocations, or unidentified marker chromosomes were not. Some characteristic chromosome abnormalities were correlated with survival time: Patients with a 1p+ marker or +7 had a significantly shorter survival time than patients with normal karyotypes only (NN). Patients with +3, +12, 6q-, i(17q), and t(14;18)(q32;q21) did not differ significantly from the NN group.

Chromosome Aberrations↗
PubMed1987

A new specific chromosomal rearrangement, t(8;16) (p11;p13), in acute monocytic leukaemia.

The translocation t(8;16) (p11;p13) was found as the sole deviation from the normal karyotype in three patients with acute monocytic leukaemia. The bone marrow morphology was strikingly similar in the two cases where smears were available for re-evaluation: the leukaemic cells showed signs of differentiation, and active erythrophagocytosis was a particularly conspicuous feature. We suggest that t(8;16) (p11;p13) represents a new consistent abnormality in acute monocytic leukaemia, specifically associated with the differentiated subtype (M5b) and with pronounced phagocytic activity by the leukaemic monocytes.

Adolescent↗