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Biomedical subjects

L Füzesi

Publications and source records attributed to L Füzesi.

At least 73 records · Page 4Linked to original sources

Clinical aspects of alveolar rhabdomyosarcoma with translocation t(1;13)(p36;q14) and hypotetraploidy.

Although most cases of alveolar rhabdomyosarcoma (RMS) are characterized by the chromosomal translocation t(2;13)(q35;q14), several cases have been reported with a variant t(1;13)(p36;q14). We present the clinical, morphological and cytogenetic features of an alveolar RMS in a 4-year-old boy. Chromosomal analysis revealed a hypertriploid to hypotetraploid karyotype with a t(1;13)(p36;q14) in all tumor cells. It appears that alveolar RMS with t(1;13) occurs in younger children and displays a higher incidence to upper and lower extremity than tumors with t(2;13).

Aneuploidy↗

Analysis of p53 mutation and cyclin D1 expression in breast tumors.

P53 and cyclin D1 are interacting regulatory genes and both are frequently altered in breast cancer. We analysed p53 mutation by SSCP and sequencing methods as well as p53 protein accumulation immunohistochemically in 34 consecutively operated breast tumors. None of 4 fibroadenomas revealed p53 mutation or p53 protein accumulation. Mutation of p53 was present in 7 carcinomas. Immunohistochemistry revealed accumulation of p53 protein in 6 carcinomas and there was a significant correlation between p53 mutation and protein accumulation. Overexpression of cyclin D1 protein was observed in 11 carcinomas by immunohistochemistry and no correlation was observed between cyclin D1 overexpression and p53 mutation or accumulation. Our data support the concept that the p53-cyclin D1 signal pathway and the cyclin D1 cascade are disregulated in breast cancer.

Breast Neoplasms↗

Multicentric metachronous central carcinoid of the lung: a case report.

A 51-year-old female patient with metachronous multiple central typical carcinoid represents the subject of the case discussed. The patient underwent bronchoplastic surgery in order to remove the first carcinoid tumor twelve years ago. She was readmitted to the hospital following a long tumor-free period of disease when two new central carcinoids were diagnosed. The carcinoids were first treated by rigid bronchoscopical removal of the tumors followed by laser coagulation of the bases. Bronchoscopic follow-up one year after the treatment did not reveal any pathological findings.

Adult↗

Plexiform leiomyoma of the uterus in a patient with breast carcinoma: case report and review of the literature.

Plexiform leiomyomas of the uterus are incidental findings in hysterectomy specimens. Histogenetically, these rare tumors are classified as a variant of epithelioid leiomyomas. Most of the plexiform leiomyomas reported range in size from microscopically small lesions to less than 1 cm in largest diameter, and they macroscopically present as a nodular white-yellowish cut surface. Microscopically, the "Indian-file" pattern of epithelial-like tumor cells of plexiform leiomyomas may be confused with metastatic breast carcinoma, in particular lobular breast carcinoma, i.e.; one of the most frequent extragenital neoplasms metastasizing to the uterus. This report describes the occurrence of a large plexiform leiomyoma in a patient with a history of breast carcinoma, and draws attention to the histological differential diagnosis between these lesions. The results of immunohistochemical stainings for cytokeratin and smooth muscle actin confirmed the final diagnosis of plexiform leiomyoma.

Aged↗

Outer dense fibre proteins from human sperm tail: molecular cloning and expression analyses of two cDNA transcripts encoding proteins of approximately 70 kDa.

The outer dense fibres (ODF) are a main cytoskeletal structure of the sperm tail. Despite their importance in the morphology and function of the sperm tail, their constituents are poorly described. Here we investigate the protein composition of human outer dense fibres. Our results suggest that human ODF consist of about 10 major and of at least 15 minor proteins, where all major proteins are ODF1, ODF2 or ODF2-related proteins. From a human testis cDNA library, we isolated two slightly different cDNAs encoding ODF2 proteins of approximately 70 kDa. Human ODF2 cDNAs and their encoded proteins are very similar to those isolated from rat and mouse pointing to a high evolutionary pressure residing on these proteins. Transcription of ODF2 is restricted to testis tissue and more specifically to round spermatids as was demonstrated by a non-radioactive in-situ hybridization. ODF2 proteins were detected in the sperm tail. Their distribution along the length of the sperm tail shows that the ODF normally extend to about half the principal piece of the sperm tail. The former result opens the possibility for a screening regarding the distribution of sperm tail proteins related to motility disorders.

Amino Acid Sequence↗

Consensus polymerase chain reaction and enzyme-linked immunosorbent assay for human papillomavirus detection and typing in cervical specimens.

Human papillomavirus (HPV) infection is common in cervical intraepithelial neoplasia (CIN). This study investigates HPV detection and typing assay based on polymerase chain reaction amplification of L1 open reading frame with general primers GP5/GP6, followed by enzyme-linked immunosorbent assay detection with type-specific DNA probes. To determine the sensitivity of this assay, formalin-fixed CaSki cells were used as reference cell lines. Fifty copies of viral DNA diluted in DNA from 100,000 noninfected cells could be detected. This assay was also investigated for HPV detection and typing of 67 cervical specimens diagnosed with with CIN III or carcinoma in situ (CIS) and their adjacent squamous epithelium. The CIN III lesions were infected in approximately 80% of the samples, 81% in the neighboring CIN II, and 68% in CIN I. The HPV infection was even detectable in 54% of nondysplastic epithelium located near a CIN III lesion.

Base Sequence↗

Prognostic value of DNA image cytometry in resected colorectal hepatic metastases.

OBJECTIVE: To determine the role of DNA image cytometry (DNA ICM) as a useful predictor of outcome following the resection of colorectal hepatic metastases. STUDY DESIGN: In 75 patients (56 R0 resections) with resected colorectal hepatic metastases, DNA ICM was performed on paraffin-embedded specimens. The DNA content of 250 tumor cells was determined in each specimen, and the 2c level was evaluated using 30 granulocytes from the same sample. RESULTS: Common algorithms of DNA ICM, such as maximum DNA content, 5c exceeding rate, 9c exceeding rate, 2c deviation index and the DNA grade of malignancy, identified a group of patients with favorable survival following R0 resection. Clinical findings failed to serve as a prognostic factor. A multivariate analysis revealed the maximum DNA content to be an independent factor influencing postoperative survival. CONCLUSION: DNA ICM is associated with the biologic aggressiveness of colorectal hepatic metastases and is useful as a prognostic marker in patients after resection.

Adenocarcinoma↗

Characterization of a newly established endometrial stromal sarcoma cell line.

We describe a newly established human sarcoma cell line derived from an endometrial stromal sarcoma (ESS). The cell line has been maintained in long-term cell culture for more than 2 years. It has been repeatedly analyzed in terms of morphology, immunocytochemical features, ultrastructure and karyotypic characteristics. In contrast to uniform endometrial stromal differentiation in vivo, the tumor cells were shown to display distinct phenotypical heterogeneity in vitro. In addition to the predominant cell type, which retained sarcomatous differentiation, foci of epithelial-like cells were observed in the cell culture. Immunocytochemical and ultrastructural analysis demonstrated a mainly mesenchymal phenotype with signs of epithelial characteristics, such as expression of cytokeratins, and the presence of desmosomes and kinetocilia, respectively. Cytogenetic analyses in early and late passages revealed unbalanced translocations between chromosomes 3 and 6 and an additional i(19)(q10), as common karyotypic changes in all tumor cells, indicating a monoclonal origin. Our new cell line can be used as an in vitro model to study the mechanisms of heterogeneous differentiation patterns in ESS.

Aged↗

Solitary enchondroma with clonal chromosomal abnormalities.

We report a case of a solitary enchondroma located in the head of the left fibula in a 50-year-old patient and present the findings of histopathologic investigation and cytogenetic analysis. The tumor revealed simple karyotypic abnormalities with t(8;17)(q23;p13) and loss of chromosomes 9, 19, and 22 as clonal chromosomal changes. Only a few enchondromas with chromosome aberrations have been published previously; nevertheless, it appears that benign and malignant cartilaginous tumors may have similar chromosomal abnormalities.

Bone Neoplasms↗

Molecular assessment of p53 abnormalities at the invasive front of oral squamous cell carcinomas.

BACKGROUND: The prognostic significance of the invasive tumor front in squamous cell carcinomas has recently been recognized. The aim of the present study was to investigate possible molecular mechanisms underlying the significance of this area in oral squamous cell carcinomas. METHODS: We used immunohistochemical and molecular genetic techniques to investigate whether p53 alterations at the invasive tumor front could determine the aggressiveness of oral cancers. RESULTS: p53 Overexpression was detected in 52% to 56% (four different p53 antibodies) of 100 carcinomas studied. The concordance rate between results of immunohistochemistry and genetic analysis was 60%. No correlation was found between p53 status of the tumors and clinicopathologic parameters analyzed statistically. CONCLUSIONS: p53 Alterations have no prognostic impact in oral squamous cell carcinomas and apparently do not represent a molecular basis for the biologic significance of the invasive tumor front. The detection of discordant p53 aberrations between primary and second primary carcinomas in some patients provide evidence for their independent origin, with possible impact on prevention and therapy.

Adult↗

Coronary vasculopathy in polycythemia vera.

Thrombosis is a common complication in polycythemia often causing death. In coronary artery occlusion, thrombosis due to hyperviscosity and thrombocytosis is mostly discussed as the origin of the infarction. We discuss the case of a 30-year-old male patient, with polycythemia, who died of myocardial infarction. On autopsy the vessels showed neither ateriosclerotic changes nor thrombotic occlusions. Instead, a marked intima proliferation was found leading to multiple occlusions whereas media and adventitia were unchanged. This pattern of a coronary vasculopathy has not been described before, and can be interpreted as an alternative mechanism for vascular occlusion in polycythemia. Similar histopathological changes have already been found in skin lesions in erythromelalgia, a common symptom in polycythemia.

Adult↗

Pathomorphological aspects of heparin-induced thrombocytopenia II (HIT-II syndrome).

The therapeutic use of heparin results in thrombocytopenia in 5-30% of patients. In 0.1-1% of patients treated with heparin, the platelet count decreases to between 100 x 10(9)/l and 50 x 10(9)/l and leads to severe synchronous central arterial and venous thrombosis with a mortality of 18-36%. This is known as "white-clot syndrome" or heparin-induced thrombocytopenia II (HIT-II syndrome). Whilst the clinical aspects and the central type of thrombosis in HIT-II syndrome are well documented, the histomorphology and differential diagnosis of thrombosis are not. We report three cases of HIT-II syndrome with thrombosis of the central arteries and veins. The HIT-II thrombi could be differentiated from thrombi of other origins, particularly from mural thrombi. Heparin-induced thrombi were seen on microscopical examination to be like onion skin in structure, and immunohistochemistry showed that they had a markedly reduced content of fibrin and clearly enhanced amounts of IgG and IgM. The layered structure thus implied appositional growth. The thrombi in HIT-II syndrome do not seem to be induced by activation of the coagulation cascade, but by platelet aggregation mediated by anti-platelet antibodies.

Aged↗

Cytogenetic analysis of 11 renal oncocytomas: further evidence of structural rearrangements of 11q13 as a characteristic chromosomal anomaly.

We carried out cytogenetic analysis on 11 renal oncotytomas by using G-banding and DAPI-banding techniques. Four of our tumors exhibited structural rearrangements affecting chromosome 11 at band q13. Together with another case previously described by us, our tumors constitute the largest series of renal oncocytomas displaying translocations involving 11q13. A review of the literature disclosed only 6 similar oncocytomas, 1 tumor with a t(9;11)(p23;q12), 2 tumors with a nearly identical t(9;11)(p23;q13), and 3 tumors with a t(5;11)(q35;q13). Therefore, our findings provide further cytogenetic evidence that genes located on 11q12-13 may be involved in the tumorigenesis of renal oncocytomas.

Adenoma, Oxyphilic↗

A cytogenetic approach to the differential diagnosis of metastatic clear cell renal carcinoma.

AIMS: To determine by cytogenetic analysis the origins of two clear cell tumours in a 70-year-old Caucasian woman, one in the thyroid gland, and the other in the skin, 16 and 20 years, respectively, after tumour nephrectomy. We sought a conclusive distinction between primary clear cell thyroid carcinoma and its cutaneous metastasis, and between thyroid and cutaneous metastases of clear cell renal carcinoma (RCC). METHODS AND RESULTS: Paraffin sections of the previously formalin-fixed thyroid tumour, and the fresh cutaneous tumour were stained with haematoxylin and eosin (H & E) and periodic acid-Schiff (PAS). Additionally, samples of both tumours were examined electron microscopically. Immunohistochemistry was performed with antibodies against thyroglobulin, pancytokeratin, keratin 7, 8, 18 and 19, chromogranin, calcitonin, CEA, vimentin and EMA. Five to six micrometre sections of both tumours were analysed with alpha-satellite probes of chromosomes 3, 7 and 17 using chromosomal in-situ hybridization (CISH). The cutaneous tumour was also cultured and analysed cytogenetically. The thyroid tumour displayed some follicle-like structures that stained positive with both PAS and antithyroglobulin, giving evidence of possibly entrapped thyroid follicles in metastatic RCC. The cutaneous tumour was negative for both stains. The tumours were ultrastructurally completely devoid of neurosecretory granules. Classical cytogenetical analysis of the cultured cutaneous tumour cells revealed monosomies 3 and 14, well-known specific primary and secondary aberrations, respectively, in clear cell RCC, and hitherto not reported in thyroid carcinomas. CISH of both tumours revealed monosomy 3, indicating a cytogenetical correlation between them. There was no evidence of typical chromosomal aberrations for thyroid carcinomas like structural changes on 10q, structural rearrangements or translocations of chromosome 7. CONCLUSION: Although neither histological sections, nor paraffin blocks of the original nephrectomy specimen were available for review, the original tumour was on record as clear cell RCC. Therefore the two tumours' renal origin was confirmed.

Aged↗

Pneumatosis cystoides intestinalis: confirmation of diagnosis by endoscopic puncture a review of pathogenesis, associated disease and therapy and a new theory of cyst formation.

Pneumatosis cystoides intestinalis (PCI) is the term for the formation of intramural gas filled cysts of unclear pathogenesis in the wall of the gastrointestinal tract. We report two patients with PCI where the diagnosis was confirmed by endoscopic puncture of a lesion, resulting in a complete deflation of the cyst, and two patients who underwent surgery. Endoscopy offers a safe and quick way to confirm the diagnosis of PCI. The immunohistochemical study revealed histiocytic cells and foreign body giant cells in the cystic wall, corresponding to a secondary histiocytic organization of gas-filled pseudocysts rather than to the widespread theory of gas-filled lymph vessels.

Adult↗

Frequent loss of chromosome 12 in human epithelial ovarian tumors: a chromosomal in situ hybridization study.

The short arm isochromosome of chromosome 12 and trisomy 12 are well-established chromosomal alterations in human ovarian germ cell tumors. However, numerical aberrations of chromosome 12 in epithelial ovarian tumors (EOTs) are highly controversial; both trisomy 12 and monosomy 12 have been observed. We performed chromosomal in situ hybridization in paraffin-embedded and formalin-fixed tissue sections of 31 EOTs. Twenty-five EOTs could be evaluated statistically (2 mucinous, 11 serous, 5 endometrioid, 3 borderline, and 4 other epithelial-type tumors) to examine the copy number of chromosome 12 and 15. The frequency distribution of hybridization signals with alpha-satellite centromeric DNA probes for chromosome 15 revealed disomy in all cases. However, we found the loss of chromosome 12 in 16 of 25 tumor samples. No correlation was found between the presence of monosomy 12 and the clinical stage of the tumors. Frequent loss of chromosome 12 may indicate that this chromosome is involved in the tumorigenesis of EOTs. Further studies are needed to clarify whether loss of chromosome 12 is an early or late event in ovarian carcinogenesis.

Carcinoma, Endometrioid↗

Renal oncocytoma of the native kidney after renal transplantation.

Patients with acquired cystic kidney disease (ACKD) are at an increased risk of renal neoplasms. Frequent tumors are adenomas and renal cell carcinomas. However, renal oncocytomas may occur in patients with ACKD. Little is known about oncocytomas of the native kidney following renal transplantation. By means of B scan ultrasonography, a solid and echo-inhomogeneous renal mass was incidentically observed in the right native kidney of a 28-year-old female patient with ACKD 4 years following renal transplantation. A nephrectomy was performed. The histological examination revealed a renal oncocytoma. The increased prevalence of neoplasms in the case of ACKD and following renal transplantation requires careful monitoring of the patients concerned. In very rare cases a renal oncocytoma may develop in the native kidney after renal transplantation.

Adenoma, Oxyphilic↗

[Ultrastructural differential diagnosis of gastrointestinal stromal tumors].

Gastrointestinal stromal tumors (GIST) may present with myogen or neurogen differentiation, mixed differentiation or with morphological features which cannot be further specified. 14 GIST of the stomach (9), the duodenum (2) and small bowel (3) were examined by immunohistochemistry and electron microscopy. Diagnosis was consistent for such tumors located distally from the stomach, however, evaluation of GIST of the stomach was different (apart from one case). Light microscopy and immunohistochemistry did not allow to discriminate between the different subtypes of GIST, however, electron microscopy revealed cellular differentiation. Hence, ultrastructural analysis is an useful tool for diagnosis of GIST, particularly those of the stomach.

Adult↗