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At least 1,675 records · Page 93Linked to original sources
PubMed2000

High frequency of clonal chromosome abnormalities in prostatic neoplasms sampled by prostatectomy or ultrasound-guided needle biopsy.

Cancer of the prostate remains poorly characterized cytogenetically. This is due in part to methodological problems and in part to the paucity of radical prostatectomies, until now the main source of material for cytogenetic analyses. We have improved existing techniques for the culturing of prostatic neoplasms removed by radical prostatectomy or sampled by ultrasound-guided needle biopsy. Successful short-term cultures were obtained from all 10 prostatectomy samples and from all 10 ultrasound-guided needle biopsies, always with a pure epithelial morphology. Of the 19 cases yielding a sufficient number of high-quality metaphases for chromosome banding analysis, the single atypical epithelial hyperplasia had a normal karyotype, whereas both prostatic intraepithelial neoplasias and 12 of 16 (75%) invasive carcinomas were shown to have clonal abnormalities. Ten of the 12 (83%) karyotypically abnormal invasive carcinomas presented structural chromosomal rearrangements. A recurrent deletion, del(10)(p13), was seen in three tumors; in one of them the terminal nature of the deletion was confirmed by two-color FISH. A del(17)(p11) was seen in one PIN lesion, but since the analysis of exons 4-8 of the TP53 tumor suppressor gene revealed no mutations, there probably was no inactivation of the second TP53 allele. Our study thus leads to the following main conclusions. First, better culturing methods allow the detection of abnormal karyotypes in a much higher percentage of prostatic neoplasms than has hitherto been possible. Second, ultrasound-guided needle biopsies of prostatic neoplasms are a sufficient source of material for cytogenetic analysis. Third, a terminal deletion of the short arm of chromosome 10, del(10)(p13), seems to identify a subgroup of prostatic cancer.

Biopsy, Needle↗
PubMed1994

[Echographic markers of chromosome abnormalities].

Many recent studies have identified biometric parameters which can be used as screening factors in the diagnosis of chromosomic anomalies. This derives from the assertion that karyotype testing in over-35-year-old women alone only allows 20-30% of fetuses suffering from chromosomic anomalies to be diagnosed. The majority of these fetuses remain undiagnosed during the prenatal period given that a high percentage of younger women are excluded from screening. For a long time researchers have hoped to introduce the assay of clinical and instrumental parameters thus allowing anomalous fetuses to be diagnosed in under-35-year-old women. It is now possible to define a biochemical parameter in maternal sera which can identify women at risk and refer them for cytogenetic tests: AFP assay and still more recently the contemporary assay of AFP, estriol and beta-HCG allows greater diagnostic accuracy. However, even using this method only part of those fetuses with chromosomic alterations are identified. Since it is unlikely that screening could be performed without indications in the under 35-year-old age group, it is important to identify routine echographic parameters which can then serve as the indication for subsequent cytogenetic tests and a definitive diagnosis. In this way, by integrating ultrasonographic examination, using biometric and morphological tests, with a biochemical evaluation it will be possible to achieve a higher percentage of diagnosis. This paper examines the most common malformations including trisomy 13, trisomy 18 and trisomy 21 syndromes, Turner's syndrome and triploidy, together with the main echographic findings which accompany them.

Adult↗
PubMed2004

Incidence and relevance of secondary chromosome abnormalities in childhood TEL/AML1+ acute lymphoblastic leukemia: an interphase FISH analysis.

The aim of the present study was to determine the frequency and clinical relevance of the most common secondary karyotype abnormalities in TEL/AML1+ B-cell precursor acute lymphoblastic leukemia (ALL) as assessed with fluorescence in situ hybridization (FISH) analyses. Screening of 372 patients who were enrolled in two consecutive Austrian childhood ALL multicenter trials identified 94 (25%) TEL/AML1+ cases. TEL deletions, trisomy 21 and an additional der(21)t(12;21) were detected in 52 (55%), 13 (14%) and 14 (15%) TEL/AML1+ patients, respectively. The 12p aberrations (P=0.001) and near tetraploidy (P=0.045) were more common in TEL/AML1+ patients, whereas the incidence of diploidy, pseudodiploidy, hypodiploidy, low hyperdiploidy, near triploidy, del(6q), chromosome 9 and 11q23 abnormalities was similar among TEL/AML1+ and TEL/AML1- patients. None of the TEL/AML1+ patients had a high hyperdiploid karyotype. Univariate analysis indicated that among TEL/AML1+ patients those with a deletion of the nontranslocated TEL allele had a worse prognosis than those without this abnormality (P=0.034). We concluded that the type and incidence of the most common secondary aberrations in TEL/AML1+ ALL can be conveniently identified with little additional effort during interphase screening with appropriate TEL and AML1 FISH probes. We also provided preliminary evidence that the deletion of the nontranslocated TEL allele may adversely influence the clinical course of TEL/AML1+ ALL.

Child↗
PubMed1978

Myelofibrosis with complex chromosome abnormality in a patient with erythrocytosis due to hemoglobin Rainier and treated with 32P.

A patient with familial erythrocytosis associated with Hemoglobin Rainier, and previously treated with 32P, developed myelofibrosis with a hyperdiploid chromosome clone in the myeloid cells (51,XX,+1,2q-(q33),+6,+9,+11,-19,+20q+,+mar 1.) This transformation from a benign disorder of differentiated erythrocytes to a malignant disorder may have been secondary to radiophosphorus therapy.

Chromosome Aberrations↗
PubMed1989

Chromosomal abnormalities in couples with recurrent abortions.

Out of 126 couples seeking genetic advice for abortions, 95 couples have experienced 2 or more spontaneous abortions. Of these, chromosome banding studies were carried out in one or both partners (92 women and 85 men). Abnormal karyotypes were found in 2 males. Both abnormalities were balanced translocations: 46 XY t(5q+ 11q-) and 45 XY t(13/14). This represents an overall frequency of 1.1% which is comparable to the reported incidence in the literature.

Abortion, Habitual↗