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J Limon

Publications and source records attributed to J Limon.

At least 55 records · Page 3Linked to original sources
PubMed1998

Mutation in the regulatory region of the EDA gene coincides with the symptoms of anhidrotic ectodermal dysplasia.

We have investigated a fragment of the regulatory region of the EDA gene in a patient with clinical symptoms of anhidrotic ectodermal dysplasia (EDA), whose DNA sequence of exon 1 was normal. The single-strand conformation polymorphism (SSCP) analysis of PCR-amplified fragments of the regulatory region of the EDA gene suggested a mutation localized within the fragment extending from nucleotide -571 to -182 upstream of the 5' end of the cDNA. Sequence analysis of this fragment documented an additional adenine in position -452, located 32 nucleotides upstream from the response element HK-1, a target for transcription factor LEF-1, involved in the differentiation of tissues of ectodermal and mesodermal origin. We postulate that this mutation might interfere with the transcription process of the EDA gene and might be responsible, at least in part, for the clinical symptoms of anhidrotic ectodermal dysplasia.

Child↗
PubMed1997

Clonal chromosome aberrations are present in vivo in synovia and osteophytes from patients with osteoarthritis.

We have previously reported recurrent clonal chromosomal aberrations in synovia, osteophytes and articular cartilage from patients with osteoarthritis (OA). In particular, gain of chromosomes 5 and 7 was found to be strongly associated with OA. In order to exclude the possibility of in vitro artefacts, we studied three to four parallel, independent cultures from ten samples of synovia and three samples of osteophytes from ten women with primary OA. In all, 40 cultures were cytogenetically analysed, 39 of which had clonal chromosomal aberrations. The most common aberrations were +7 and +5 which were found in 38 and 12 cultures, respectively. There were striking karyotype similarities among the parallel cultures from each case. Out of a total of 83 clones, only 11 were unique for one culture, 7 from synovia and 4 from osteophytes. The genetic homogeneity among different cultures from the same patients excludes the possibility of in vitro artefacts and indicates a widespread distribution of the cytogenetically aberrant clones in vivo.

Aged↗
PubMed1997

Prognostic implications of cytogenetic findings in kidney cancer.

OBJECTIVE: To evaluate the prognostic impact of cytogenetic findings in renal cell carcinoma (RCC). PATIENTS AND METHODS: Tumour cytogenetics, histomorphology, DNA ploidy and S-phase fraction, stage, size, and grade were related to survival in 50 consecutive patients with RCC. The mean follow-up was 3.9 years (median 4.2, range 0-8.8). RESULTS: The predictive probability for recurrence-free survival at 5 years (5-year RFS) for all 50 patients was 0.54. There was a significant association between the degree of cytogenetic complexity and survival, in that patients with five or less aberrations had a better prognosis than those with more than five changes (5-year RFS 0.71 and 0.43, respectively; P < 0.05). Patients with del(8p)/-8, +12, and +20 had a significantly worse prognosis compared with those without these aberrations. Of the well-known prognostic variables grade and stage, the former was far better for predicting prognosis. A Spearman correlation test showed a significant covariation of grade with the S-phase fraction, T-stage, and cytogenetic complexity. CONCLUSION: The degree of cytogenetic complexity and recurrent cytogenetic abnormalities affect the prognosis in RCC, although grade was the most reliable independent prognostic factor predicting disease recurrence.

Carcinoma, Renal Cell↗
PubMed1996

Clear cell sarcoma of tendons and aponeuroses with t(12;22) (q13;q12) diagnosed initially as malignant melanoma.

Cytogenetic analysis performed on a specimen from an inguinal lymph node metastasis of a tumor diagnosed initially as a cutaneous malignant melanoma revealed the following karyotype: 50,XX, +2, +7, +8, +8, t(12;22) (q13;q12). The finding of t(12;22) (q13;q12), an abnormality specific of clear cell sarcoma of tendons and aponeuroses (CCS), prompted reanalysis of histologic slides, and a final diagnosis of CCS was made. Our case illustrates the usefulness of cytogenetic analysis in the differential diagnosis of CCS and malignant melanoma. In addition, extra copies of chromosomes 8, 7, and 2, present in our case as well as in previously reported tumors, seem to play an important, although at present not understood, role in the development of CCS.

Adult↗
PubMed1996

Evidence of somatic mutations in osteoarthritis.

We examined, cytogenetically and by in situ hybridization (ISH) techniques, the synovia, osteophytes, and articular cartilage from 32 patients with pronounced osteoarthritis (OA), a prevalent form of arthropathy characterized by progressive reduction of articular cartilage, and synovial samples from 17 control patients. In short-term cultures, clonal chromosome aberrations, in particular the gain of chromosomes 7 (+7) and 5 (+5), were found to be strongly associated with OA. These aberrations were found in almost 90% of the cultures from synovia and osteophytes, whereas only 1/11 synovial samples from joints unequivocally unaffected by OA had cells with +5 or +7. The in vivo nature of trisomy 7 was demonstrated by ISH on uncultured cells, and serial passaging showed that cells with +7 had a proliferative advantage in vitro. Thus, the combined data indicate that cells with somatic mutations appear early and may be influential in the disease process leading to OA.

Adult↗
PubMed1996

Fine mapping of the EDA gene: a translocation breakpoint is associated with a CpG island that is transcribed.

In order to identify the gene for human X-linked anhidrotic ectodermal dysplasia (EDA), a translocation breakpoint in a female with t(X;1)(q13.1;p36.3) and EDA (patient AK) was finely mapped. The EDA region contains five groups of rare-cutter restriction sites that define CpG islands. The two more centromeric of these islands are associated with transcripts of 3.5 kb and 1.8 kb. The third CpG island maps within <1 kb of the translocation breakpoint in patient AK, as indicated by a genomic rearrangement, and approximately 100 kb centromeric from another previously mapped translocation breakpoint (patient AnLy). Northern analysis with a probe from this CpG island detected an approximately 6-kb mRNA in several fetal tissues tested. An extended YAC contig of 1,200 kb with an average of fivefold coverage was constructed. The two most telomeric CpG islands map 350 kb telomeric of the two translocations. Taken together, the results suggest that the CpG island just proximal of the AK translocation breakpoint lies at the 5' end of a candidate gene for EDA.

Base Sequence↗
PubMed1996

[Chondrosarcoma of the small pelvis imitating an ovarian tumor].

The authors present diagnostic-therapeutic record concerning chondrosarcoma-tumor in 41-year-old women operated on ovary-tumor. They point out the rareness of chondrosarcoma within pelvis, the diagnostic and therapeutic difficulties and relapses into illness after radical remove of tumour without pelvis bones resection.

Adult↗
PubMed1995

Chromosome abnormalities in bilateral breast carcinomas. Cytogenetic evaluation of the clonal origin of multiple primary tumors.

BACKGROUND: Although acquired somatic mutations presumably are crucial in carcinogenesis, nothing is known about the chromosome aberrations of bilateral breast carcinomas. METHODS: Eighteen specimens from 16 bilateral carcinomas were analyzed cytogenetically. The banding analysis was supplemented with fluorescence in situ hybridization with painting probes. RESULTS: In two cases, the finding of the same clonal abnormalities in samples from both breasts indicated that the bilaterality had arisen through a metastatic process. In the remaining cases, the absence of similarities between the two sides indicated an independent origin of the two carcinomas. Also, in multifocal lesions within the same breast, examples were found both of karyotypically related and unrelated clones. Altogether, multiple clones without similarities were detected in nine specimens, sometimes together with other, karyotypically related clones. There was no indication that bilateral carcinomas of the breast are cytogenetically different from unilateral ones. The following chromosomal abnormalities were recurrent: der(1;16)(q10;p10), del(1)(q11-n12), del(1)(q42), and del(3)(p12-n13p14-n21). CONCLUSIONS: Bilateral breast carcinomas have the same cytogenetic aberrations, including evidence of polyclonality, as unilateral carcinomas. The majority apparently arise independently, but some result from a metastasis from one breast to the other. In this sense, bilateral breast carcinomas are similar to multifocal breast cancer in general, of which bilateral tumors may represent a special case.

Aged↗
PubMed1995

Cytogenetic findings in malignant peripheral nerve sheath tumors.

Clonal chromosome aberrations were detected in 8 short-term cultured malignant peripheral nerve sheath tumors (MPNST). Seven had a near-triploid chromosome number and I was in the hyperhaploid-hypodiploid range. No recurrent structural rearrangements were found; the bands most frequently involved (3 tumors) were 7p11, 12p13 and 14q11. The most common numerical changes were loss of a sex chromosome (all tumors) and loss of at least 1 copy of chromosomes 8, 16 and 22 (4 tumors). Pooling our data with those on the 20 previously published MPNST with abnormal karyotypes, we found that the chromosome number has often been in the triploid range (12 tumors), with stem line variation between 34 and 270. All chromosome arms, except 22p and the Y chromosome, were involved in recombinations. The most frequently rearranged bands were 7p22 (6 tumors) and 1p21, 7p11 and 14q11 (5 tumors each). Most numerical and unbalanced structural aberrations have led to loss of genetic material, in particular from Xq26-qter (13 tumors); 11q22-qter and 13p (12 tumors); 9p22-pter, 11p13-pter, 17p and 17q11-21 (11 tumors); 1p22-32 and 1p34-pter (10 tumors) and 6q25-qter and chromosome 16 (9 tumors).

Adolescent↗
PubMed1995

Chromosome aberrations, spontaneous SCE, and growth kinetics in PHA-stimulated lymphocytes of five cases with Sézary syndrome.

Cytogenetic studies of five patients with Sézary syndrome (SS) revealed clonal chromosome aberrations in all cases. In one patient, a del(8)(p21) was the sole abnormality, whereas the remaining cases had karyotypes with multiple chromosome changes. In three SS cases with hypodiploid chromosome numbers, structural rearrangements affecting regions 10q22-24 and 12p11-13, and aberrations leading to loss of material from 17p were found concurrently. Bands 14q11 and 14q32 were involved in structural rearrangements in one case each. Our results and review of 51 published previously SS cases that were analyzed with banding techniques indicate that the chromosomes most frequently involved in structural changes were chromosomes 1 and 2 (in 43% of cases), 6 (in 38%), 17 (in 34%), 14 (in 27%), 11 (in 25%), 13 (in 21%), and 9 (in 20%). In particular, the breakpoints tended to aggregate at 1p11, 1p36, 2p11-24, 6q, 9q, 11q, 13q11-14, 14q11, 14q32, and in the pericentric region of chromosome 17. The most common numerical change was loss of chromosome 10, detected in 32% of SS cases. In our studies of three SS cases, sister chromatid exchange frequencies were significantly higher in comparison to the normal control. Cell cycle kinetics analysis revealed that the cell cycle time in the malignant cells was significantly longer than in lymphocytes of normal individuals.

Adult↗
PubMed1995

Accumulation of chromosomal changes in human glioma progression. A cytogenetic study of 50 cases.

Cytogenetic studies of 50 human gliomas, including three oligodendrogliomas, 16 grade I-III astrocytomas, and 31 glioblastomas multiforme, were performed using the short-term tissue culture method. The most common numerical chromosome aberrations were +7, -9, -10, -14, and loss of a sex chromosome. Structural changes involved predominantly the following chromosome arms: 1q, 2q, 6q, 7q, 9p, 14q, 17p, and 18p. Losses of chromosomes 9, 10, and 14, often occurring simultaneously and in polyploid clones, were observed almost exclusively in high-grade gliomas, and appear to constitute important events during glioma progression.

Adolescent↗
PubMed1995

Cytogenetic and immunohistochemical profile of myxoid liposarcoma.

Cytogenetic and immunohistochemical studies were performed in nine myxoid liposarcomas. The tumor karyotype was determined after short-term culture of cells in vitro. Immunohistochemical studies were performed on frozen tissue in five cases and on paraffin-embedded tissue in three cases. Chromosomal analysis demonstrated a balanced translocation t(12;16) (q13;p11) as the sole abnormality in four cases. Two cases showed an association with other abnormalities. Three tumors showed variants of the t(12;16) translocation involving other chromosomes. In all cases studied, the 12q13 breakpoint was involved in rearrangements. In the majority of cases, immunohistochemical studies demonstrated vimentin (9 of 9) and S-100 protein (8 of 9). Strong focal expression of desmin was observed in two tumors. Weak focal expression was observed in three tumors. Two tumors, which were both desmin positive, showed focal expression of MSA and alpha-SMA. Strong expression of CD36 was present in all four cases that were studied for this marker. CD34 was negative in tumor cells, but it highlighted an intricate capillary network in the tumor. Close relationship between the tumor cells and pericapillary pericytes was demonstrated with CD34 and alpha-SMA strains. The authors conclude that myxoid liposarcoma is characterized by a specific chromosomal rearrangement. Its immunohistochemical profile is wider than previously believed, including expression of muscle markers.

Adult↗
PubMed1995

Usefulness of cytogenetic analysis in the diagnosis of undifferentiated synovial sarcoma of the chest wall. A case report.

A case of poorly differentiated spindle cell malignant neoplasm of the chest wall in a 21-year-old man is reported. The results of histopathological and immunohistochemical examinations were not characteristic enough to establish the precise diagnosis. Due to the age of the patient and the location of the lesion and NSE positivity of tumor cells, the possibility of Askin's tumour or malignant peripheral nerve sheath tumour was considered. Cytogenetic analysis revealed a chromosomal translocation t(X;18)(p11;q11), which is known as the specific aberration in synovial sarcoma. Chromosome study seems to be a useful tool for identifying undifferentiated mesenchymal tumours.

Adult↗
PubMed1995

Parachordoma--a clinicopathologic, immunohistochemical, electron microscopic, flow cytometric, and cytogenetic study.

A case of parachordoma in a 45-year-old female was described. Histologically, the recurrent lesion, in comparison with the primary tumor, demonstrated an increased cellular atypia and mitotic rate. The tumor cells expressed EMA, vimentin, S 100 protein, and also a trace desmin content was present. Electron microscopic study provided no characteristic features of the tumor type studied. Flow cytometric evaluation of the DNA demonstrated a diploid histogram with the relatively high S-phase. Cytogenetic analysis revealed normal karyotype, but a deviation from the diploid state in the form of aneuploid metaphases with non-clonal structural chromosomal aberrations was observed.

Chordoma↗
PubMed1995

Non-isotopic procedure with silver staining of polyacrylamide gels in detection of genomic abnormalities in tumors using microsatellites.

Microsatellite-based PCR (polymerase chain reaction) with silver staining of polyacrylamide gels as an alternative approach to detect genomic abnormalities in tumors has been developed. In experiments with a series of primers for microsatellite sequences located on human chromosome 5 we found that a 2- to 4-fold increase or decrease in the ratio of amount of allelic microsatellite sequences can be reliably assessed from the relative intensity of corresponding PCR products. Results of the studies of renal carcinoma cell lines carrying increased or decreased numbers of specific allelic markers on chromosome 5 assessed by cytogenetics, Southern blotting-restriction fragment length polymorphism and microsatellite analyses were consistent. Microsatellite studies performed on samples obtained from formalin-fixed paraffin-embedded archival material allowed detection of genomic abnormalities of chromosome 5 in five of ten primary renal cell carcinomas.

Base Sequence↗