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S Heim

Publications and source records attributed to S Heim.

At least 199 records · Page 11Linked to original sources
PubMed1992

Re-emergence in remission of primary clone in acute myelogenous leukaemias with multiple chromosomal aberrations at diagnosis.

We describe the clinical, haematological and cytogenetic features of three patients who had acute myelogenous leukaemia (AML) with complex bone marrow karyotypes when first cytogenetically examined. Induction chemotherapy led to remission from the acute leukaemia. However, neither clinically nor morphologically did this remission mean a return to normal haematopoiesis. The two patients who displayed myelodysplastic features before and when AML was diagnosed, again developed myelodysplasia, and the third patient, who had a long history of polycythaemia vera, returned to this myeloproliferative condition. Nor was cytogenetic normalization achieved; instead, abnormal cell clones were found in which all but one of the karyotypic aberrations present at acute leukaemia diagnosis had disappeared. The solitary anomalies that were detected in these reemerging clones must correspond to the primary cytogenetic aberrations of the patients pre-leukaemic diseases. They were del(5) (q11q33) and del(17) (p11) in the two myelodysplastic cases, and der(18)t(9;18) (p11;p11) in the patient with long-standing polycythaemia vera. The other, secondary, aberrations were probably the leukaemogenic changes, and with the eradication or reduction of the subclones containing them, the leukaemic phenotype disappeared. The three cases add cytogenetic evidence to the growing understanding that the remission obtained in some AMLs is actually a return to a preleukaemic, myeloproliferative or myelodysplastic, syndrome.

Adult↗
PubMed1992

Cerebral symptoms after whiplash injury of the neck: a prospective clinical and neuropsychological study of whiplash injury.

Twenty one unselected patients with an acute whiplash injury of the neck had neurological and neuropsychological assessment, cervical x rays, EEG, BAEP, MRI, and an otoneurological examination within two weeks of the injury. Subjectively, 13 patients reported concentration deficits, 18 reported sleep disturbances, 9 had symptoms of depression, and 7 female patients told of menstrual irregularities. Neuropsychological examination revealed significantly lower performance in tests related to attention and concentration compared to sex, age and educational matched control subjects. Otoneurological examination showed abnormalities in 9 of 17 whiplash subjects. EEG showed questionable changes in 8 of 18 recordings. MRI and BAEP were normal in all patients. Repeat neuropsychological testing in 15 patients at three months showed that attention deficits had improved but were still shown in 12 of 14 and the concentration deficits in 8 of 13 patients. At one year all patients had returned to work, 16 to full and 5 to part time employment. In 4, cognitive dysfunction remained the only significant problem. These findings are discussed as being compatible with possible damage to basal frontal and upper brain stem structures after whiplash injury of the neck.

Adolescent↗
PubMed1992

Molecular analysis of Philadelphia-positive childhood chronic myeloid leukemia.

The breakpoints in chromosome 22 were determined in five children with Philadelphia-positive chronic myeloid leukemia. All had rearrangements within the major breakpoint cluster region (M-bcr). Four patients had breakpoints in the 5' region of M-bcr (zones 1-3), whereas one had a rearrangement in the 3' region (zone 4). The patient with the 3' rearrangement was the only one to develop a lymphoid blast crisis; he also had a substantially longer survival (102 months) than the others (11-54 months).

Child↗
PubMed1991

Trisomy 13 as a primary chromosome aberration in acute leukemia.

Four patients with acute leukemia displayed trisomy 13 as the primary chromosome abnormality. The two patients with acute nonlymphocytic leukemia FAB-type M1 (ANLL-M1) had the karyotypes 47,XY,+13/48,XY,+13,+13 and 47,XX,+13, a patient with the hypogranular form of ANLL M3 had 47,XX,+13, and the fourth patient, who had acute undifferentiated leukemia (AUL), had the karyotype 47,XY,+13/48,XY,+8,+13. Including these four cases, a total of 24 hematologic neoplasms with an extra chromosome 13 as the sole aberration have now been reported. Except for the AUL, all have been of myeloid origin--20 ANLL, one myelodysplastic syndrome, and two chronic myeloproliferative disorders. Trisomy 13 as the sole acquired karyotypic abnormality therefore seems to be strongly associated with myeloid differentiation of the neoplastic cells and with a differentiation block leading to acute leukemia.

Acute Disease↗
PubMed1991

Bilateral ovarian carcinoma: cytogenetic evidence of unicentric origin.

Cytogenetic analyses were performed on the tumors from both ovaries in 15 patients with bilateral ovarian carcinoma. In 4 of them, omental implants were also examined. Abnormal karyotypes were detected in 11 cases. The baseline karyotypes in the 2 tumorous ovaries were identical in each patient, indicating that bilateral ovarian cancer develops by metastatic spreading. There was no clear-cut evidence of differences in the clonal evolution between the tumors of the 2 ovaries, and hence the side harboring the primary tumor could never be determined. The metastatic nature of the omental implants was proved by the fact that their karyotypes were indistinguishable from those of the ovarian tumor tissue.

Adenocarcinoma↗
PubMed1991

Cytogenetic analysis of 33 basal cell carcinomas.

Cytogenetic analysis of short-term cultures from 33 basal cell carcinomas (BCC), a type of neoplasm for which no previous karyological data exist, revealed clonal chromosome aberrations, all of them different, in 8 tumors. In 2 cases, 2 cytogenetically unrelated clones were detected, suggesting a multicellular origin in at least a subset of BCC. A remarkably high level of nonclonal structural rearrangements, mostly in the form of seemingly balanced translocations, was found in 23 tumors; namely, in 6 of 8 BCC with clonal karyotypic abnormalities and in 17 of 25 without. It is possible that some of these aberrations represent additional neoplastic clones, thus indicating an even higher level of cytogenetic heterogeneity in BCC. We think that the most likely interpretation of the results is that BCC may have a multicellular origin, reflecting field cancerization of the skin. During subsequent tumor development, the selection pressure narrows down the number of clones that infiltrate the surrounding tissue. The finding by karyotypic analysis of some apparently monoclonal, some polyclonal BCC, may reflect that different tumors have been examined at different points in the clonal evolution of the neoplastic cells.

Aged↗
PubMed1991

Rearrangement of 9p13 as the primary chromosomal aberration in adenoid cystic carcinoma of the respiratory tract.

Two adenoid cystic carcinomas, one of the nasal cavity, the other a bronchial tumor, were cytogenetically analyzed. The former had a t(6;9)(q21-22;p 13-21) as the sole karyotypic abnormality. The latter had two related abnormal clones, resulting in the mosaic karyotype 46,XY,t(9;17)(p13;p13)/46,Y,t(X;6)(p22;q23),t(9;17)(p13;p13). The karyotypic profiles of the two cases, the only respiratory tract adenoid cystic carcinomas that have been cytogenetically characterized, differ little from those of previously reported adenoid cystic carcinomas of the major salivary glands, underscoring the fundamental biologic similarity among these tumors even when they develop from different structures and in different anatomical sites and organs. Because in the second case the t(9;17) obviously must have preceded the t(X;6), we conclude that both tumors had rearrangement of 9p13 as the primary cytogenetic change. The data thus add to the evidence that 6q changes are frequent, albeit at least sometimes secondary, aberrations in malignant salivary gland tumors. A subset of adenoid cystic carcinomas instead have rearrangement of 9p as the primary, and presumably pathogenetically essential, abnormality.

Adult↗
PubMed1991

Trisomy 7 in short-term cultures of colorectal adenocarcinomas.

Cytogenetic analysis of short-term cultures from six adenocarcinomas of the colon revealed trisomy 7 as a recurrent clonal chromosomal abnormality. In three tumors, +7 was the sole change. In the fourth carcinoma, two aberrant clones with simple numerical aberrations were detected; one with +7 and one with +3. Tumors 5 and 6 both displayed two completely different abnormal clones; one had numerous numerical and structural abnormalities and thus was undoubtedly representative of the cancer parenchyma, and the other had only +7. The karyotypic differences between the coexisting clones in the latter two cases seem to argue against an evolutionary scenario in which the karyotypically more complex clones have evolved from the clones carrying trisomy 7 only. Furthermore, in tumor 6 the metaphases with trisomy 7 were found in colonies of fibroblast-like cells whereas those with a large number of abnormalities grew in colonies of epithelial-like cells. The combined results indicate that mitoses with trisomy 7 as the sole chromosomal change do not represent the neoplastic parenchyma of colorectal adenocarcinomas.

Adenocarcinoma↗
PubMed1991

Trisomy 7 and sex chromosome loss need not be representative of tumor parenchyma cells in malignant glioma.

We describe the cytogenetic findings in short-term cultures from 40 malignant gliomas, all of which had at least one clone with a simple numerical chromosome aberration. More than one aberrant clone was found in 17 tumors. The most frequent changes were loss of a gonosome (sole aberration in 38 clones), trisomy 7 (sole aberration in four clones), and combinations thereof (the aberrations +7 and -X or -Y were found together as the only changes in four clones). Clones with solitary trisomies for other autosomes--3, 5, 6, and 18--were seen in five tumors. Clones with structural rearrangements were found in nine tumors. The bands most commonly involved were lp36, 7p22, 9p22, 17p13, and 19q13. An extra copy of chromosome 7 was seen as part of a structurally abnormal clone in five tumors. In one case, trisomy 7 and even tetrasomy 7 were found in clones with simple numerical changes, but not in the clone with structural rearrangements. Likewise, the clonal loss of a gonosome was in six tumors, with structural abnormalities not present in the structurally aberrant clones; on the other hand, in two clones with structural aberrations a sex chromosome had been lost. The combined findings indicate that loss of a sex chromosome and trisomy 7 should not be seen as tumor-specific aberrations in gliomas. Instead, both glioma parenchyma cells and nonneoplastic cells in brain tumors may have a propensity to acquire extra copies of chromosome 7 and to lose gonosomes.

Aneuploidy↗
PubMed1991

AgNOR staining in benign hyperplasia and carcinoma of the prostate.

We have modified existing techniques for silver staining of nucleolar organizer regions of intact interphase cells by hypotonic swelling and by formic acid treatment to reduce background staining. This allowed the microscopic identification and counting of individual AgNORs in the nucleoli. The method was used on nine adenomatous prostatic samples (including one of normal prostate tissue outside a localized tumor) and on seven prostatic adenocarcinomas. In general, the adenomatous samples displayed fewer AgNORs (mean 13 dots/cell) than did the carcinomas (mean 24 dots/cell). Although no cells with very high AgNOR counts were found in specimens from nonmalignant tumors, two of the adenomatous prostates did have AgNOR profiles that to a large extent overlapped with those of carcinomas. A highly differentiated carcinoma (of which only very small amounts were present in the sample) had low AgNOR counts. The three moderately differentiated carcinomas had more silver-positive material than the nonmalignant prostates but less than the three poorly differentiated carcinomas. The latter tumors also had a substantial proportion of cells with greater than 60 AgNOR counts, something that was never seen in carcinomas with higher differentiation. The data indicate that analysis of silver staining-positive material in intact interphase cells may help distinguish between benign and malignant prostatic tumors and between highly malignant and low malignant carcinomas.

Adenocarcinoma↗
PubMed1991

New chromosomal rearrangement, t(12;22)(p13;q12), in acute nonlymphocytic leukemia.

The karyotype 47,XX, + 8,t(12;22)(p13;q12) was found at diagnosis in two patients with acute nonlymphocytic leukemia (ANLL). The bone marrow morphology of both patients corresponded to the M4 subtype of the French-American-British (FAB) classification. The translocation t(12;22) has not previously been reported as the sole structural aberration in ANLL.

Adult↗
PubMed1991

Chromosomal abnormalities in giant cell tumors of bone.

Cytogenetic analysis of short-term cultures from ten giant cell tumors of bone revealed clonal and nonclonal chromosome abnormalities in three tumors and nonclonal changes only in seven. None of the clonal aberrations, inv(21)(p11q21) in one tumor, +5 in another, and t(15q22q), dic(4;22)(p16;p1?), double minutes, dicentrics, and ring chromosomes present in three separate clones in the third tumor, were identical to previously reported clonal changes in giant cell tumors. Telomeric associations were found in five tumors. The telomeres of chromosome arms 19q and 15p were particularly frequently involved.

Adolescent↗
PubMed1991

Chromosome analysis of 96 uterine leiomyomas.

From September 1989 to May 1990, we attempted cytogenetic analysis on 96 uterine leiomyomas removed from 64 women. Of the 90 tumors in which analysis was successful, 59 had a normal karyotype while 31 had clonal abnormalities. The most common aberration (13 tumors) was 7q-, mostly del(7)(q21.2q31.2); in two tumors with +12 and t(12;14) as the primary abnormalities, the 7q- was obviously a secondary change since it was found only in a subclone. A t(12;14)(q14-15;q23-24) was detected in two tumors, complex aberrations involving both 12q14-15 and 14q23-24 were also present in two, and rearrangements of 12q without concomitant 14q changes were seen in another two myomas. Rearrangements of 6p were present in five tumors, and trisomy 12 was found in two. More than one abnormality could be detected in 17 leiomyomas. Evidence of clonal evolution in the form of subclones was found in eight tumors, all of which were cellular and had histologically detectable mitotic activity. In addition to their clonal complexity, these myomas also frequently exhibited clonal telomeric associations (four tumors) and ring chromosome formation (three tumors; twice affecting chromosome 1). Monosomy 22 occurred as a secondary abnormality in three tumors; it, too, may reflect a preferred pathway in the karyotypic evolution of uterine leiomyomas.

Chromosome Aberrations↗
PubMed1991

Chromosomal abnormality t(9;22)(q22;q12) in an extraskeletal myxoid chondrosarcoma characterized by fine needle aspiration cytology, electron microscopy, immunohistochemistry and DNA flow cytometry.

A multidisciplinary approach was taken to characterize a soft tissue tumour. In smears prepared from aspirated material, uniform tumour cells, embedded in a myxoid matrix and partly arranged in a lace-like pattern, were found. Histopathology showed a lace-like pattern of cells in a matrix of hyaluronidase-stable mucins. Cytoplasmic positivity for S-100 protein was found in some tumour cells. Electron microscopic analysis revealed intracisternal aggregates of microtubules. All these features are consistent with the diagnosis of extraskeletal myxoid chondrosarcoma (EMC). DNA flow cytometry showed a diploid DNA content. Cytogenetic examination revealed the tumour karyotype 45,XY,t(2;11)(q31;p15),t(9;22)(q22.3;q12),dic(13;22)(p11;p13). Because similar 9;22-translocations have been described in two other cases of EMC, we conclude that t(9;22)(q22-31;q11-12) is a specific rearrangement in this tumour type. Cytogenetic analysis may thus be of diagnostic value in the examination of tumours with this and similar histologies.

Aged↗
PubMed1991

Cytogenetics of secondary myelodysplasia (sMDS) and acute nonlymphocytic leukemia (sANLL).

76 cases of secondary myelodysplasia (sMDS) and acute non-lymphocytic leukemia (sANLL) were cytogenetically analyzed. Among the 36 sMDS patients, 13 (36%) had only normal karyotypes whereas 23 (64%) displayed clonal chromosomal abnormalities. The most common aberrations were -7, 5q-, -5, and +8. In 10 patients (43% of the cytogenetically aberrant cases), clones with only one anomaly, mostly 5q- or -7, were found. Of the 40 sANLL patients, normal karyotypes were detected in 10 (25%). Among the 30 (75%) abnormal cases, the most frequent aberrations were -7, -5, +8, 7q-, -17, and +21. 12 patients (40%) had clones with single abnormalities, most often -7. In 4 sANLL patients cytogenetically unrelated clones were detected. A survey of all previously published secondary hematologic neoplasias reveals that the most frequent abnormalities in sMDS are -7 (41%), 5q- (28%), and -5 (11%), followed by der(21q), +8, 7q-, der(12p), t(1;7), -12, -17, der(17p), der(3p), der(6p), and -18. Clones with single aberrations have been found in 45% of the cases and cytogenetically unrelated clones have been described in 6%. The most common abnormalities in sANLL are -7 (38%), 5q- (17%), -5 (15%), +8 (13%), and -17 (11%), followed by der(3q), der(11q), der(12p), -21, 7q-, -18, der(3p), der(17p), +21, der(21q), der(6p), and -16. 38% of the sANLL patients have had clones with only one aberration and 3% have had unrelated clones. The frequencies of these nonrandom abnormalities in sMDS and sANLL are thus remarkably similar - the only exception appears to be 5q-, which is more common in sMDS. Also the mean number of abnormalities per case is similar - 5.3 in sMDS and 5.6 in sANLL. When the incidences of characteristic cytogenetic abnormalities were correlated with the type of previous therapy, -7 was found to be more frequent in sMDS and sANLL patients who had been exposed to chemotherapy whereas 5q- was associated with previous exposure to ionizing radiation in sMDS patients.

Aged↗