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M Miozzo

Publications and source records attributed to M Miozzo.

At least 37 records · Page 2Linked to original sources
PubMed1995

Involvement of chromosomes 17 and 22 in dermatofibrosarcoma protuberans.

Literature on the cytogenetics of dermatofibrosarcoma protuberans (DFSP) is limited; only 10 cases with chromosome aberrations have been reported. They are karyotypically characterized by the presence of supernumerary ring(s), either as the sole cytogenetic abnormality or together with a few additional structural or numerical changes. We report the cytogenetic and fluorescence in situ hybridization (FISH) analysis of three new DFSP, one primary and two recurrent tumors. In two cases we found a supernumerary ring as the sole change, whereas the third had two copies of a marker chromosome and monosomy of chromosome 22. Sequences of chromosomes 17 and 22 were identified by FISH in the supernumerary rings and in the markers. The fluorescence pattern suggested that additional sequences were present in the two rings, but showed that the marker chromosomes were entirely painted by chromosome 17 and 22 probes. The findings indicate that juxtaposition and/or amplification of chromosome 17 and 22 sequences could be crucial in the pathogenesis of DFSP.

Adult↗
PubMed1995

The two-stage model of lexical retrieval: evidence from a case of anomia with selective preservation of grammatical gender.

The two-stage theory of lexical production distinguishes the retrieval of lemmas from the subsequent retrieval of the forms of words. The information made available by lemma retrieval includes semantic and grammatical details that are specific to a particular word, but not the direct specification of its phonological or orthographic form. This theory makes very strong predictions regarding the dissociability of these information types. In this report, we present the case of an Italian anomic patient whose performance bears on these predictions. In various naming tasks this patient's intact ability to identify the grammatical gender of words that he cannot produce stands in stark contrast with his inability to provide any information regarding particular lexical forms. We document the reliability of this performance pattern, and we discuss the significance of this pattern both in terms of the support it provides for the two-stage theory of lexical retrieval and in terms of the evidence it furnishes regarding the mental specification of grammatical information.

Adult↗
PubMed1995

Somatic genetic changes in lung cancer and precancerous lesions.

BACKGROUND: Morphological abnormalities of the bronchial epithelium are associated with lung cancer development and are considered likely to represent the preneoplastic stage of the disease. The association of these lesions with different histological types of lung cancer was reviewed in a series of 97 samples. Lesions associated with squamous cell carcinomas provided the best samples for further study. The objective of this study was to describe the somatic genetic changes which occur in these preinvasive lesions. Among the various candidate somatic genetic changes, loss of heterozygosity on chromosome 3 and changes to the p53 gene were selected as being the most informative. It was demonstrated that these genetic changes, characteristic of fully invasive lung tumours, also occur at the premalignant stage of the disease. In an attempt to take a less directed approach to the comparison of invasive and preinvasive lesions, karyotype analysis was performed on short-term cultures of bronchial cells adjacent to the bronchial margin obtained from patients undergoing lung tumour resection. One such karyotype had a deletion to chromosome 3 (del 3p13-14) as the single abnormality. CONCLUSION: It was concluded that genetic damage to p53 and chromosome 3 is involved in the preinvasive stage of lung cancer, and that damage to chromosome 3 is a particularly early event.

Bronchi↗
PubMed1994

A t(10;17) translocation creates the RET/PTC2 chimeric transforming sequence in papillary thyroid carcinoma.

Activation of the RET protooncogene tyrosine kinase (tk) by fusion with other genes is a frequent finding in papillary thyroid carcinoma. The tk domain of proto-RET can be fused either with the D10S170 gene generating the RET/PTC1 transforming sequence or with sequences belonging to the gene encoding the regulatory subunit RIA of c-AMP-dependent protein kinase A, thus forming the RET/PTC2 oncogene. We have previously shown that an inversion of chromosome 10, inv(10)(q11.2q21), is responsible for the generation of the RET/PTC1. Here we report that a chromosomal translocation, t(10;17)(q11.2;q23), juxta-poses the tk domain of the RET protooncogene, which resides on chromosome 10, to a 5' portion of the RIA gene on chromosome 17, leading to the formation of the chimeric transforming gene RET/PTC2. The finding of the transforming protein in primary tumor cell extracts supports the conclusion that RET/PTC2 activation plays a role in papillary thyroid tumorigenesis.

3T3 Cells↗
PubMed1994

The two genes generating RET/PTC3 are localized in chromosomal band 10q11.2.

PCR analysis of DNA from a selected panel of human-rodent somatic cell hybrids and fluorescent in situ hybridization (FISH) analysis allowed us to localize the human ELE1 gene. This previously uncharacterized gene is fused with the tyrosine kinase (tk) domain of the RET proto-oncogene to generate the oncogenic sequence RET/PTC3, thus providing a third example of RET oncogenic activation in papillary thyroid carcinomas. ELE1 was localized to band 10q11.2, the subband where RET also maps, at a minimum distance of more than 500 kb from the proto-oncogene. The fusion event corresponding to the rearrangement reciprocal to that leading to the formation of RET/PTC3 was also identified and characterized. The karyotype of two RET/PTC3 positive tumors did not show any evidence of chromosome 10 abnormalities. The data indicate that a cytogenetically undetectable paracentric inversion within 10q11.2 generates RET/PTC3.

Base Sequence↗
PubMed1994

Supernumerary ring chromosomes containing chromosome 17 sequences. A specific feature of dermatofibrosarcoma protuberans?

Mystery surrounds the mechanisms by which the uncommon cutaneous tumor dermatofibrosarcoma protuberans (DP) arises and progresses. A clue may be at hand in the form of extra abnormal chromosomes (one of three ring chromosomes per case with or without other chromosome abnormalities) seen in some 10 cases, including five cases in our experience. The specificity of the rings to DP would be enhanced if the rings were found to contain a contribution from a constant chromosome. We here report fluorescence in situ hybridization (FISH) results bearing on the chromosomal content of DP rings, together with clinical, pathologic, and cytogenetic documentation of our first two cases, which were briefly reported earlier, and three new DP cases. To dissect a translocation (in our 2nd case), we probed by FISH and discovered chromosome 17 sequences in the rings in all five DP cases. Nonfluorescent bands were seen on some rings painted with a whole chromosome 17 probe, indicating the presence in these rings of foreign chromosome sequences. The complexity of the rings was underscored by the detection in only one case of chromosome 17 centromeric sequences. The situation in DP seems to have parallels to that in well-differentiated liposarcoma, another tumor of intermediate malignancy with extra abnormal marker chromosome containing contributions from a constant chromosome and variable donors. In DP the supernumerary rings are clearly specific and significant.

Adult↗
PubMed1993

Genetic changes in lung cancer.

In an attempt to define the type and temporal sequences of somatic genetic changes that precede the onset of invasive lung cancer, and to search for biological markers useful in screening multiple primary tumors of the upper aerodigestive tract, we have performed a cytogenetic and genetic study using normal bronchial epithelium and primary tumor specimens of 68 patients undergoing pulmonary resection for early stage lung cancer, and normal bronchial epithelium of 5 controls with metastatic sarcomas. Of the 68 lung cancer cases, 31 had a single tumor and 37 displayed multiple synchronous or metachronous tumors. Cytogenetic alterations were observed in 59% (23/39) of the evaluable tumor specimens with complex rearranged karyotypes, particularly involving chromosomes 3 (70%), 17 (39%), 11 (26%), 8, 9, 12 (22%), and 7 (17%). Gene alterations were also detected including overexpression of epidermal growth factor receptor (EGFR) in 63% (36/57), HER2/NEU in 21% (12/56), and p53 mutations in 50% (12/24). The overall frequency of genetic changes (any type) in the tumors was 76% (52/68). In the normal bronchial mucosa, we identified a rearranged karyotype in 20% of the evaluable cases (13/63); particularly simple rearrangements involving chromosomes 3p (6 cases), 7 (6 cases), 17 (3 cases), 9, 11 (2 cases), 8 (1 case); as well as overexpression of EGFR in 39% (20/51) and of HER2/NEU in 14% (7/51). The overall frequency of genetic changes (any type) in the normal epithelium was 46% (30/65). The presence of a rearranged karyotype in the bronchial mucosa was associated with a rearranged karyotype in the tumor sample. Other statistically significant correlations were found between histopathologic and clinical features and the occurrence of the different cytogenetic and genetic changes both in tumors and in the normal bronchial mucosa. No genetic abnormalities were found in the bronchial epithelium of the 5 controls.

Biomarkers, Tumor↗
PubMed1993

Category-specific form-knowledge deficit in a patient with herpes simplex virus encephalitis.

In-depth case study of a herpes simplex virus encephalitis patient who presents with a relatively clear knowledge disorder and anterograde amnesia in the absence of any other major cognitive deficit. The main neuropsychological feature is a category-specific impairment restricted to living things. The patient misnamed pictures of animals and vegetables, could not accurately draw animals from memory or verbally describe their visual appearance, and was not accurate in sorting pictures of real animals from pictures of unreal animals; conversely, in the same tasks her performance with artifactual objects was either errorless or superior to that with animals. We interpret the patient's category-specific deficit as due to a selective disturbance within the structural description system, rather than a deficit in low-level visual processing or semantic memory. From this case study and a review of other reported cases we claim that such deficit of form-knowledge is a consequence of the extensive lesions that affect bilaterally the inferior parts of the temporal lobes. The patient here described thus offers further empirical evidence for the crucial role of the inferotemporal cortex in processing visual knowledge about concepts.

Acyclovir↗
PubMed1993

Category-specific naming impairments? Yes.

Recently, Stewart, Parkin, and Hunkin (1992) have questioned previously reported cases of selective damage in processing items from categories of animate objects, arguing that there has been a lack of adequate control for visual familiarity, visual complexity, and name frequency of the stimuli employed. When re-testing Michelangelo (see Sartori & Job, 1988), one of the patients cited by Stewart et al. (1992), with a set of materials matched on all three factors, the asymmetry in naming animal and artefact items still remains. An analogous pattern is obtained when--in addition to such factors--the visual similarity within the sub-sets of animals and artefacts is taken into account. These results constitute empirical evidence for category-specific impairments and cannot be interpreted as being due to isolated or conjoint effects of visual familiarity, visual complexity, or name frequency.

Anomia↗
PubMed1993

On the existence of category-specific impairments. A reply to Parkin and Stewart.

Parkin and Stewart (this issue) criticize Sartori, Miozzo, and Job's (this issue) demonstration of a category-specific naming impairment for living things when sets of living and non-living things were matched for familiarity, visual complexity, name frequency, and visual similarity. In this paper we discuss the points raised by Parkin and Stewart and argue that they do not undermine our demonstration of a category-specific impairment.

Anomia↗
PubMed1992

Deletions of 17p and p53 mutations in preneoplastic lesions of the lung.

Cytogenetic and p53 mutation analysis in two cases of severe dysplasia of the bronchial epithelium in lung cancer patients and p53 immunostaining in a third one are reported. The finding of both chromosomal deletions of 17p and p53 mutation indicates that these changes may take place early in the process of lung carcinogenesis.

Base Sequence↗
PubMed1992

Characterization of an inversion on the long arm of chromosome 10 juxtaposing D10S170 and RET and creating the oncogenic sequence RET/PTC.

RET/PTC is a transforming sequence created by the fusion of the tyrosine kinase domain of the RET protooncogene with the 5' end of the locus D10S170 designated by probe H4 and is frequently found activated in human papillary thyroid carcinomas. RET and D10S170 have been mapped to contiguous regions of the long arm of chromosome 10: q11.2 and q21, respectively. To identify the mechanism leading to the generation of the oncogenic sequence RET/PTC, a combined cytogenetic and molecular analysis of several cases of papillary thyroid carcinomas was done. In four cases the results indicated that these tumors had RET/PTC activation and a paracentric inversion of the long arm of chromosome 10, inv(10)(q11.2q21), with breakpoints coincident with the regions where RET and D10S170 are located. Therefore, a chromosome 10q inversion provides the structural basis for the D10S170-RET fusion that forms the hybrid transforming sequence RET/PTC.

Blotting, Southern↗
PubMed1992

Cytogenetic and molecular genetic characterization of papillary thyroid carcinomas.

A combined cytogenetic and molecular analysis was performed on 11 cases of papillary thyroid carcinoma. A simple karyotypic abnormality was detected in five tumors, whereas six had no apparent chromosome change. In four of five rearranged cases the presence of a specific chromosomal abnormality involving chromosome 10 (cases 1 and 2) and chromosome 1 (cases 3 and 4) was associated with the rearrangement of two protooncogenes: RET and NTRKI (formerly trk), respectively, with different donor genes. Moreover, the chromosomal localization of the involved genes and the type of chromosomal change observed suggested that RET and NTRKI activation occurred by intrachromosomal rearrangements. The six cases with normal karyotype did not show RET or NTRKI activation. These findings suggest that a combined cytogenetic and molecular approach would be useful in understanding the pathogenesis of thyroid neoplasia.

Blotting, Southern↗
PubMed1992

A t(2;3)(q12-13;p24-25) in follicular thyroid adenomas.

We report the cytogenetic analysis of five cases of follicular thyroid adenoma. In two of them, we observed an identical t(2;3)(q12-13;p24-25) as a unique chromosome change. A third case showed a hyperdiploid karyotype with trisomies of chromosomes 7 and 12. Two cases had a normal diploid karyotype. These changes could define subgroups of follicular adenomas endowed with different malignant potential.

Adenocarcinoma↗
PubMed1991

Cytogenetic abnormalities and overexpression of receptors for growth factors in normal bronchial epithelium and tumor samples of lung cancer patients.

A cytogenetic analysis was performed on direct preparations and short-term cell cultures of lung tumor and normal bronchial epithelium of 19 patients carrying either a first or a second primary lung cancer. In 9 tumors (6 squamous cell carcinomas, 1 adenocarcinoma, 1 mucoepidermoid carcinoma, and 1 small cell lung carcinoma) successfully analyzed, pseudodiploid and hyperdiploid karyotypes were observed with a heterogeneous pattern of chromosome abnormalities but with a consistent involvement (5 cases) of the short or the long arm of chromosome 3. The normal bronchial epithelial cells had a normal karyotype in 11 patients, whereas in 6 patients clonal and nonclonal chromosomal abnormalities were observed. Involvement of chromosome 7 was present in 4 cases. In addition, overexpression of the growth factor receptors, epidermal growth factor receptor and HER-2/neu, was found in 9 of 18 tumors and in 6 of 13 bronchial epithelium samples. These findings suggest that early genetic lesions could be present in the normal bronchial epithelial cells that are the target of further complex and multiple genetic changes occurring during the pathogenesis of lung cancer.

Aged↗
PubMed1991

The human tropomyosin gene involved in the generation of the TRK oncogene maps to chromosome 1q31.

The chromosomal localization of hTMnm, a gene coding for a cytoskeletal tropomyosin non-muscle isoform involved in the activation of the TRK proto-oncogene in various human tumors, was determined by Southern blot analysis of a panel of human-rodent somatic cell hybrids. Using as a probe an Alu-free intronic fragment related to the tropomyosin sequence fused to the TRK tyrosine kinase domain, the hTMnm gene was assigned to the long arm of chromosome 1. Subsequently, in situ hybridization of the same probe to human metaphase chromosomes localized the hTMnm gene to 1q31. Since we have recently assigned the TRK locus to chromosome 1q32-q41, the generation of the hybrid transforming sequence tropomyosin-TRK may be due to an intrachromosomal rearrangement of the long arm of chromosome 1.

Blotting, Southern↗