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N Mandahl

Publications and source records attributed to N Mandahl.

At least 307 records · Page 17Linked to original sources
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

Lipomas have characteristic structural chromosomal rearrangements of 12q13-q14.

Cytogenetic analysis was performed in 10 consecutive lipomas; 6 had typical benign histology whereas four had foci of atypia. Three tumors had supernumerary ring chromosomes, 6 had different balanced rearrangements, and one had a normal karyotype. Chromosome 12 was involved in 5 of the balanced rearrangements and, although less certainly, in all the ring chromosomes, with breakpoints localized to 12q13 or q14. The other rearranged chromosomes were numbers 2, 3, 7, 8, 11, 17 and 22. These results demonstrate the non-random involvement of chromosomal region 12q13-q14 in benign lipogenic tumors. The combined data from this and previous studies on benign and malignant lipogenic tumors indicate that different levels of cytogenetic specificity exist within this group of neoplasms. We suggest that myxoid liposarcoma development requires the recombination of 2 specific chromosomal bands (12q13 and 16pII), whereas for some types of benign lipogenic tumors structural changes in 12q13-q14 may be sufficient for neoplastic growth.

Aged↗
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

Clonal chromosome abnormalities in two liposarcomas.

Two liposarcomas were analyzed with chromosome banding technique. The sole chromosomal abnormality in one of the tumors, a mixed type (myxoid and round cell) liposarcoma, was t(12;16)(q13;p11), a rearrangement previously reported to be associated with myxoid liposarcoma. The other tumor, a pleomorphic liposarcoma, displayed massive numerical rearrangements (modal chromosome number 94-112), and numerous, mostly unidentifiable, marker chromosomes. The following clonal structural aberrations were recognized: del(1)(p22), del(1)(q23), t(7;?)(p22;?), i(17q), and t(19;?)(q13;?).

Adult↗
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↗
PubMed1987

Monosomy and trisomy of 15q24----qter in a family with a translocation t(6;15)(p25;q24).

A child with multiple anomalies, including growth retardation, a left-sided diaphragmatic hernia with lung hypoplasia, and cerebral malformations is described. Cytogenetic investigation demonstrated a deletion of the distal part of one chromosome 15, del(15)(q24qter), an aberration not previously described. Family studies revealed that the mother had a balanced translocation, t(6;15)(p25;q24). Two of her subsequent pregnancies resulted in abortions after prenatal diagnosis: one fetus was trisomic for 15q24----qter, while the other had monosomy 15q24----qter and a left-sided diaphragmatic hernia similar to the first child.

Chromosome Deletion↗
PubMed1987

Cytogenetic studies in Hodgkin's disease.

Cytogenetic analysis was attempted in 20 patients with Hodgkin's disease. No mitoses were found in 2 cases, normal metaphases in 7, and normal metaphases with nonclonal aberrations in 7. Of the 4 cases with clonal aberrations, one had +16 as the sole change, whereas the remaining tumors had multiple numerical and structural changes.

Adolescent↗
PubMed1987

New structural chromosomal rearrangements in congenital leukemia.

The karyotypic abnormalities and clinical data on three patients in whom acute leukemia was diagnosed within the first 6 months of life are presented. The four structural chromosomal rearrangements detected in the bone marrow from these patients, i.e., t(7;12)(q36;p13) and t(1;19)(q11;q11) in case 1, t(2;10;11;12)(q21q31;p13;q13;q24) in case 2, and t(11;19)(q23;p13) in case 3, have not previously been associated with congenital leukemia. Acquired chromosomal changes have until now been reported in only 31 leukemic infants in this age group. Of the total material, 18 patients had acute lymphoblastic leukemia and 16 had acute nonlymphocytic leukemia. The by far most frequently recorded cytogenetic aberration has been t(4q;11q), seen in 14 cases of lymphoblastic leukemia. Although t(4q;11q) has not been found in a single patient with acute nonlymphocytic leukemia, these leukemias have often had other rearrangements involving the same region of 11q. Hence, genetic material around 4q21 may be active in lymphocytic differentiation, whereas gene(s) in 11q23 may be important in the neoplastic process in a less cell-type specific manner and perhaps particularly vulnerable to neoplastic rearrangement in fetal life. The finding of four cases out of 34 with translocations between 11q23 and chromosome 19 indicates that this rearrangement might characterize a specific cytogenetic subgroup of leukemia in the very young.

Acute Disease↗
PubMed1986

Structural chromosome aberrations in a case of angioleiomyoma.

Chromosome analysis of cells from an angioleiomyoma revealed the karyotype 46,XX,del(6)(p21p23),del(21)(q21)/46,XX. The possible importance of these structural derangements is discussed within the framework of current knowledge on chromosome aberrations in benign neoplasms.

Adult↗
PubMed1986

Reciprocal translocation t(3;12)(q27;q13) in lipoma.

A reciprocal translocation, t(3;12)(q27;q13), was found as the sole karyotypic abnormality in an intramuscular lipoma. The morphology of the derivative 3q+ was strongly reminiscent of the large ring marker we have previously described in three other lipomas, indicating a pathway through which the rings may have arisen. These data, combined with the previous preliminary report by Turc-Carel et al. of a similar t(3;12) in another lipoma strongly suggest that this rearrangement may be a characteristic cytogenetic marker in benign lipogenic tumors.

Chromosomes, Human, Pair 12↗
PubMed1986

High resolution banding analysis of the reciprocal translocation t(6;9) in acute nonlymphocytic leukemia.

The cytogenetic, hematologic, and clinical characteristics of a 13-year-old girl with acquired t(6;9)(p23;q34) and dysmyelopoietic syndrome developing into acute myelomonocytic leukemia are described, bringing the total number of patients with t(6;9) and hematologic disease described in the literature up to 19. The diagnosis has been acute myeloid leukemia in the great majority of these patients; only four have had acute myelomonocytic leukemia. High resolution analysis at the 550 band stage localized the breakpoints in chromosomes #6 and #9 to p23 and 9q34.3, respectively. Previous investigations employing high resolution cytogenetics have mapped the typical 9q breakage site in chronic myeloid leukemia to 9q34.1. In situ hybridization studies have demonstrated that the cellular oncogene c-abl remains on the derivative 9q+ chromosome in t(6;9), whereas it is moved to the Ph marker in t(9;22). Thus, the combined data indicate that c-abl is located between 9q34.1 and 9q34.3, i.e., in subband 9q34.2 or its immediate vicinity.

Acute Disease↗
PubMed1986

High resolution chromosome analysis of constitutional and acquired t(15;17) maps c-erbA to subband 17q11.2.

High resolution chromosome analysis was performed on bone marrow cells from four patients with acute promyelocytic leukemia and t(15;17), and in lymphocytes from two unrelated, phenotypically normal persons with an apparently identical constitutional translocation. Scrutiny of prophase-prometaphase chromosomes localized the breakpoints in all six cases to subbands 15q22.3 and 17q11.2. Molecular genetic studies have localized the oncogene c-erbA to chromosome #17 between the breakpoints of the constitutional and the acquired anomaly. The present results, therefore, map c-erbA to subband 17q11.2.

Chromosome Aberrations↗
PubMed1986

Reciprocal translocation (11;19)(q23;p13) in congenital acute lymphoblastic leukemia.

The cytogenetic, clinical, and immunologic findings ina 4-month-old girl with acute lymphoblastic leukemia (ALL) are reported. The malignant lymphoblasts were characterized cytogenetically by the reciprocal translocation t(11;19)(q23;p13); immunologically by an immature pre-B-ALL phenotype. In spite of the high-risk nature of the leukemia, the patient attained complete remission relatively quickly and is still free of disease 3 years after diagnosis. Because the only two previously reported ALL patients with t(11;19) also seem to have responded well to therapy, this cytogenetic abnormality might turn out to be an indicator of favorable prognosis in ALL.

Chromosome Banding↗