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F Mertens

Publications and source records attributed to F Mertens.

At least 145 records · Page 8Linked to original sources
PubMed1995

Trisomy 20 is a primary chromosome aberration in desmoid tumors.

Cytogenetic analysis revealed trisomy 20 in 4 desmoid tumors: in 2 cases as the sole aberration, in 1 together with +X, -Y and -13 and in 1 with +8 and a supernumerary marker chromosome. Our findings indicate that gain of chromosome 20 is an early event in the development of a large subset of desmoid tumors and that it is as frequent as +8, the only consistent chromosomal change previously reported in this tumor type. The non-random occurrence of trisomies 8 and 20 in desmoid tumors indicates shared pathogenetic mechanisms with infantile fibrosarcoma, a fibrous tissue tumor characterized by various combinations of trisomies for chromosomes 8, 11, 17 and 20.

Adult↗
PubMed1995

Cytogenetic evolution patterns in non-Hodgkin's lymphoma.

Secondary chromosomal aberrations were surveyed in non-Hodgkin's lymphomas (NHL) reported in the literature with one of the following, presently recognized, primary abnormalities: t(2;5), +3, t(3;14), del(6q), +X, and -Y. Of 2,175 NHLs with clonal karyotypic changes, 908 (42%) had one of the 13 selected primary chromosome rearrangements, and 670 (74%) of these lymphomas displayed additional abnormalities. The type and frequency of the secondary aberrations were ascertained and then correlated with both the type of primary abnormality and morphologic subtype; low-, intermediate, and high-grade according to the Working Formulation. The incidence of secondary aberrations differed not only among the primary abnormality subgroups, from 0% in del(11q) NHLs to 93% in t(3;14) lymphomas (P < .001) but also between B- and T-cell NHLs (78% versus 55%, P< .001) and among the different histologic subgroups: 66% in low-, 85% in intermediate-, and 71% in high-grade lymphomas (P < .001). The mean number of secondary changes per case also varied among the primary abnormalities, from none in del(11q) NHLs to 12.0 in inv(14) lymphomas (P < .001), and among the morphologic subtypes: 4.6 in low-, 6.7 in intermediate-, and 3.6 in high-grade NHL (P < .001). Recurrent secondary aberrations were found in 6 of the 13 primary abnormality subgroups: t(2;5), t(3;14), t(8;14), t(11;14), inv(14), and t(14;18). The most frequent secondary aberrations were +X, -Y, dup(1q), del(6q) varied both within and among the primary abnormalities; the most frequent imbalances were a gain of 1q23-31 and losses of 6q21, 6q23, and 6q25. Other common imbalances were deletions of 1p31-36, 1q31-44, 2q34-37, 7q35-36, 9p22-24, 11q23-25, 13q13-21, and duplication of 12q13-22. The distribution of the secondary changes was clearly nonrandom with the most common anomalies being -Y and +7 in t(2;5); +X, del(6q), and +7 in t(3;14); dup(1q) and +7 in t(8;14); -Y, del(6q), and -13 in t(11;14); del(6q), -17, and -18 in inv(14); and del(6q), +7, and +12 in t(14;18) NHLs. In general, the secondary aberrations were similar in lymphomas of different histologic subtypes but with the same primary abnormality, although some significant differences were discerned: +3, del(6q), +7, and +18 wee more common (P < .01) in intermediate-grade than in high-grade t(8;14) NHLs; monosomy 13 occurred only in intermediate-grade t(11;14) NHLs (P < .05); and +7 and t(8;14)/t(8;22) were more frequent (P < .01 and P< .001, respectively) in high-grade than in low- and intermediate-grade t(14;18) NHLs.(ABSTRACT TRUNCATED AT 400 WORDS)

Chromosome Aberrations↗
PubMed1995

Chromosomal abnormalities involving 11q13 are associated with poor prognosis in patients with squamous cell carcinoma of the head and neck.

BACKGROUND: In individual patients with squamous cell carcinoma of the head and neck (SCCHN), established prognostic factors do not satisfactorily predict clinical outcome. Although the karyotype is an independent prognostic factor in certain hematologic malignancies and solid tumors, no data have been reported concerning the possible relationship between chromosomal abnormalities and clinical outcome in patients with SCCHN: METHODS: In 116 cases of primary SCCHN, short term cultures were analyzed cytogenetically during 1987 through 1991, the karyotypes were divided into four groups: k1, normal (n = 35); k2, numeric changes only (n = 31); k3, simple structural abnormalities (n = 27); and k4, complex karyotypes (n = 23). The patients were followed for at least 18 months after diagnosis or until death. RESULTS: The 2-year survival rate was lower in the k4 subgroup (35%) than in the k1, k2, and k3 subgroups taken together (61%), both in the series as a whole (P = 0.02), and in the largest tumor site subgroup, laryngeal squamous cell carcinoma (n = 32), (P = 0.04). The most prevalent breakpoint was in chromosome band 11q13, occurring in 11 tumors, 10 of which belonged to the k4-subgroup. The 2-year survival rate was lower for patients with 11q13 rearrangements (20%) than for those without (60%), both in the series as a whole (P = 0.001), and in the k4-subgroup (P = 0.02). CONCLUSIONS: The results suggest that in SCCHN the presence of a complex karyotype is associated with poor prognosis, particularly when 11q13 rearrangements are present.

Adult↗
PubMed1995

Nonrandom chromosome abnormalities in short-term cultured primary squamous cell carcinomas of the head and neck.

We report the finding of clonal chromosome abnormalities in short-term cultures from 44 squamous cell carcinomas of the head and neck region. Eleven tumors had gain or loss of the Y chromosome, sometimes one clone with +Y and another with -Y, as the sole anomaly, whereas the remaining 33 all carried structural rearrangements and usually were cytogenetically complex with multiple aberrations. The chromosomal bands most frequently involved were, in decreasing order of frequency, 8p11-q11, 1p11-q11, 3p11-q11, 11q13, 13p11-q11, 1p13, 5p11-q11, 7p11-q11, 15p11-q11, and 14p11-q11. Almost one-half of the breakpoints were located in centromeric or juxtacentromeric bands. Recurrent aberrations included i(8q), i(5p), i(1q), del(3)(p11-12), del(5)(p11), t(1;1)(p13;q25), and der(14;15)(q10;q10). To see whether the karyotypic features of head and neck squamous cell carcinoma differ depending on exact tumor site, we added to the present series our previously published 23 karyotypically abnormal head and neck squamous cell carcinomas that had been cultured in the same way as the tumors of the present series. In the ensuing correlation analysis, tumors of the oral cavity and oropharynx and hypopharynx were found to share many features: highly complex karyotypes were frequent, often containing isochromosomes such as i(8q) and i(5p), and also rearrangements of 11q13 (often as homogeneously staining regions) and loss of genetic material from the short arms of chromosomes 3, 13, 14, and 15 were repeatedly seen. Laryngeal carcinomas, on the other hand, often had simple karyotypic changes.

Adult↗
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

Karyotypic features of malignant tumors of the nasal cavity and paranasal sinuses.

Cytogenetic analysis of short-term cultures from 6 tumors of the nasal cavity and paranasal sinuses--one esthesioneuroblastoma, 2 adenocarcinomas and 3 squamous-cell carcinomas (SCC)--revealed clonal chromosome aberrations in all cases. The esthesioneuroblastoma had a complex hyperdiploid karyotype. None of the aberrations was similar to those previously described in short-term cultures or established cell lines from esthesioneuroblastomas. The 2 adenocarcinomas had complex karyotypic changes, which in both cases included rearrangements of bands 9p22 and 14q11. One SCC had 5 unrelated pseudodiploid clones, 1 displayed a highly complex karyotype, including rearrangement of band 11q13, and 1 had simple karyotypic changes with loss of 6q material and gain of 3q. These findings are similar to those described in head-and-neck SCC at other sites.

Adenocarcinoma↗
PubMed1995

Near-haploidy in two malignant fibrous histiocytomas.

Cytogenetic analysis of two malignant fibrous histiocytomas (MFH) revealed near-haploid clones in both tumors. One tumor had only 23 chromosomes, the lowest chromosome number so far detected in human neoplasia, and showed several structural rearrangements: 23, X, der(1)t(1;?;8)(q42;?;q13), +del(7)(p11),der(8)t(8;13)(q13;q12), inv(9)(p24q21), r(10)(p15q26), -13, der(14)t(14;22)(p13;q11), -15, +r. The other MFH had only numerical changes: 28,X, +5, +18, +20, +21, +22/56, idemx2. With the present two cases, four of 78 MFHs studied in our laboratory have been near-haploid, suggesting that this otherwise rare phenomenon in neoplasia may be relatively common in MFH.

Female↗
PubMed1995

Tetraploidization and progressive loss of 6q in a squamous cell carcinoma of the parotid gland.

Cytogenetic analysis of short-term cultures from a squamous cell carcinoma (SCC) of the parotid gland revealed one clone with loss of the Y chromosome only, as well as three related subclones: 91,XXYY,add(6)(q21), -11,t(11;22)(q13;q11),ins(15;?)(q22;?)[cp5+ ++]/91,XXYY,add (6)(q21), -11,add(11)(p11), ins(15;?)(q22;?),der(22)t(11;22)(p11;q11)[2]/91,XXYY,add(6)(q11), -11,add(11)(p11),ins(15;?)(q22;?),der(22) t(11;22)(p11;q11) [cp4]. The finding of only one copy of all structurally rearranged chromosomes in a near-tetraploid karyotype indicates that tetraploidization was an early event in tumorigenesis. Rearrangements, in particular deletions, of 6q have previously been associated with adenoid salivary gland malignancies. Our finding of progressive 6q loss with clonal evolution, combined with the fact that 6q deletions were also seen in the two previously reported SCCs of the salivary glands, indicate that loss of genetic information from this chromosome arm is characteristic for most types of salivary gland carcinomas, irrespective of their histologic differentiation.

Aged↗
PubMed1995

Clonal karyotypic evolution in a pediatric neurofibrosarcoma.

A retroperitoneal neurofibrosarcoma infiltrating the spine of a 2-year-old boy was investigated cytogenetically three times over a 5-month period. The first sample, from a diagnostic fine-needle aspiration biopsy, had a supernumerary i(1)(q10) as the sole clonal aberration; two cells showed monosomy 18 in addition to the isochromosome. The second sample, obtained at tumor resection 3 weeks later, had the karyotype 47,XY, +i(1)(q10), -18, +21/45,XY, -18. After 5 months, a large local recurrence was resected. The chromosome analysis showed further clonal evolution: 45,XY, +1,der (1;11)dic(1;11)(q44;q13)i(1)(q10), inv(6)(p21q12), -17. The findings indicate that formation of i(1)(q10) and loss of chromosome 18 may be early genetic events in neurofibrosarcoma development.

Child, Preschool↗
PubMed1995

Molecular characterization of nocardioform actinomycetes in activated sludge by 16S rRNA analysis.

The analysis of complex microbiota present in activated sludge is important for the understanding and possible control of severe separation problems in sewage treatment such as sludge bulking or sludge foaming. Previous studies have shown that nocardioform actinomycetes are responsible for these conditions, which not only affect the efficiency of sewage treatment but also represent a threat to public health due to spread of pathogens. However, isolation and identification of these filamentous, nocardioform actinomycetes is hampered by their fastidious nature. Most species are still uncultivable and their taxonomy is unresolved. To study the ecology of these micro-organisms at the molecular level, we have established a clone library of 16S rRNA gene fragments amplified from bulk sludge DNA. A rough indication of the predominant flora in the sludge was given by sequencing randomly chosen clones, which revealed a great diversity of bacteria from different taxa. Colony hybridization with oligonucleotide probe MNP1 detected 27 clones with 16S rDNA inserts from nocardioform actinomycetes and mycobacteria. The sequence data from these clones together with those from randomly chosen clones were used for comparative 16S rRNA analysis and construction of dendrograms. All sequences differed from those of previously sequenced species in the databases. Phenotypic characterization of isolates of nocardioform actinomycetes and mycobacteria cultivated in parallel from the same activated-sludge sample revealed a large discrepancy between the two approaches. Only one 16S rDNA sequence of a cultured isolate was represented in the clone library, indicating that culture conditions could select species which represent only a small fraction of the organisms in the activated sludge.

Actinomycetales↗
PubMed1995

Pigmented villonodular synovitis. Monoclonality and metastasis--a case for neoplastic origin?

We report a 48-year follow-up of a case of recurrent pigmented villonodular synovitis of the knee. Subcutaneous metastasis to the contralateral thigh was an unusual finding. Histology demonstrated fibroblastic and histiocytic proliferation, as well as increased mitotic activity in recurrent lesions. Cytogenetic analyses demonstrated monoclonality and chromosomal abnormalities. Our findings support a neoplastic origin of this lesion.

Aged↗
PubMed1994

Characterization of the CHOP breakpoints and fusion transcripts in myxoid liposarcomas with the 12;16 translocation.

Myxoid liposarcomas are cytogenetically characterized by t(12;16)(q13;p11). The translocation results in rearrangements of the CHOP gene in 12q13 and the FUS gene in 16p11, creating a fusion gene where the RNA-binding domain of FUS is replaced by the DNA-binding and leucine zipper dimerization domain of CHOP. In the present study, we have mapped 16 genomic breakpoints in the region of the CHOP gene and isolated and sequenced a new variant (type II) of the chimeric FUS/CHOP transcript. The genomic breakpoints were dispersed along a 7.50-kilobase pair region from a SstI cleavage site upstream of the promoter of CHOP to a PstI cleavage site within intron 1. Reverse transcriptase-polymerase chain reaction analysis of tumor samples demonstrated the presence of two variant fragments, 654 base pairs (type I) and 378 base pairs (type II) in size. Of the 13 samples analyzed, 7 showed the smaller, 3 showed the larger, and 3 showed both types of transcripts. We cloned and sequenced the two fragments and found in type II a novel fusion point in the FUS mRNA 275 base pairs upstream of that present in the type I transcript. In both types of transcripts the interrupted FUS is followed by the entire exon 2 of CHOP. As a consequence the normally nontranslated exon 2 is translated and in both types there is in the junction between FUS and CHOP a shift from a FUS glycine codon to a valine codon in the chimeric mRNA.

Base Sequence↗