Malignant epithelioid ovarian schwannoma: a case report.

There are only a few cases reported in the literature about schwannoma originating from the ovary. The patient was registered to the hospital due to a painless solid tumor in her left axillary region. Histologic examination of the excised tumor showed reticulum cell sarcoma. Two years later, oophorectomy was performed due to a unilateral ovarian tumor. The results of the histologic examination with different staining were particularly the same as those found in the axillary tumor, finally diagnosed as a malignant epithelioid schwannoma of the ovary. Our case report may be of interest for three reasons: 1) malignant schwannoma of the ovary is a very rare tumor, 2) the epithelioid type of the tumor may cause a differential diagnostic problem, and 3) clinical appearance of the metastasis was quite unusual, also resulting in difficulties in the appropriate diagnosis.

[Rare association of rare diseases: Langerhans-cell histiocytosis and lymphangioleiomyomatosis in the lung]. / Ritka betegségek ritka társulása: Langerhans-sejtes histiocytosis és lymphangioleiomyomatosis együttes elöfordulása a tüdöben.

This is a case history of a 24-year-old female patient in whom two rare pulmonary diseases occurred: Langerhans cell histiocytosis and four years later lymphangioleiomyomatosis were diagnosed. Both diseases were verified by the examination of the lung tissue removed by the surgery for pneumothorax. The patient's symptoms were characterised by coughing, dyspnoe, repeated pneumothorax. The authors summarised the characteristics and treatment of these diseases. This case history is worth of reporting for its unique rareness.

Cytogenetic abnormalities of alveolar soft-part sarcomas using interphase fluorescent in situ hybridization: trisomy for chromosome 7 and monosomy for chromosomes 8 and 18 seem to be characteristic of the tumor.

Four alveolar soft-part sarcomas were investigated by means of standard immunohistochemistry and interphase cytogenetics to further characterize the immunophenotype and proliferative activity of this tumor. The main goal of this study was to explore the chromosomal changes of this rare soft-tissue sarcoma. One epithelial (KLI), three neurogenic [neuron specific enolase (NSE), PGP 9.5, and S100], and five myogenic (desmin, myoglobin, alpha-smooth mnuscle actin, alpha-sarcomeric actin, and MyoD1) markers were used for the immunophenotypical analysis. Proliferative activity was assessed using the Ki67 index. Twelve (peri)centromeric (1, 3, 4, 6, 7, 8, 10, 12, 15, 17, 18, and X) and one telomeric (17q25-qtel.) chromosomal probes were used for interphase cytogenetic analysis. Three of the cases showed cytoplasmic desmin and/or myoglobin, and one showed smooth muscle actin positivity. All of the four tumors had granular, cytoplasmic, possibly nonspecific MyoD1 and sarcomeric actin positivity. Two of the tumors were positive for vimentin, four gave focal and weak staining with neurogenic markers (four of four NSE, one of four S100, and four of four PGP 9.5), but none of them was positive with KLI. Alveolar soft-part sarcomas may show myogenic immunophenotype in a number of cases, which supports myogenic differentiation. Fluorescent in situ hybridization using alpha satellite chromosomal probes revealed significant alterations in all of the cases. Most frequent and repeated numerical changes, which seem to be characteristic of the neoplasm and may play an important part in its pathogenesis and/or progression, were trisomy 7, monosomy 8 and monosomy 18.

[Gastrointestinal stromal tumors. Observations on the basis of 29 cases]. / Gastrointestinalis stromalis tumorok. Saját tapasztalatok 29 eset kapcsán.

42 gastrointestinal mesenchymal tumors are analyzed by the authors with characterization of immunohistochemistry and DNA study. Out of 42 tumors, 29 GIST 3 leiomyoma, 4 leiomyosarcoma, 3 benign schwannoma, 1 soliter fibrous tumor, 1 inflammatory myofibroblastic tumor and 1 benign haemangiopericytoma were found. All 29 GIST but two could be characterized by c-kit (CD-117) and CD-34 positivity independently weather they displayed focal neurogenic and/or myogenic immunomarkers. In GIST group, 10 cases were benign, 6 borderline and 13 malignant. All benign cases were euploid by DNA study, the malignant tumours were highly aneuploid. Concerning the borderline GIST group by morphology, the aneuploid DNA content may speak for malignant biological behavior, and the diploid DNA content in low grade malignant GIST by morphology may speak for better outcome in the malignant group. There is a discussion about the nomenclature of this morphological group, about the role of the c-kit gene and the necessity of the immunohistochemistry and DNA content determination.

[Human insulin-induced lipoatrophy]. / Humán inzulin okozta lipoatrophia.

The medical history of a 14-year-old diabetic adolescent female patient is presented. The patient has been exclusively treated by human insulin since the manifestation of diabetes at age of 11. As a clinical curiosity lipoatrophy developed at different sites of insulin injections (upper arm, thigh, abdominal wall, buttock). The insulin administration technique by pen-devices was correct. The patient proved to be non-atopic without signs of insulin allergy on intracutan tests. On histological examination, "lipoblastoma-like" alterations without signs of local immune mechanisms and no inflammatory cell infiltrates were found at the site of lipoatrophy. The histological findings suggested dedifferentiation of adipose tissue mediated probably by elevated local tumor necrosis factor-alpha. Immunological consequences of previous human insulin treatment were documented by high insulin-specific IgG and IgE antibody titer, however, no clinical signs of immunogenic insulin resistance were found. Switching to insulin analogue (insulin lispro) before main meals no further lipoatrophic areas were observed despite of using human NPH-insulin for basal insulin supplementation. Insulin analogue (insulin lispro) may be useful for treating diabetic patients with lipoatrophy secondary to previous human insulin treatment.

[Malignant transformation of giant cell tumor in the distal radius. Value of the DNA cytophotometry]. / Die maligne Entartung eines Riesenzelltumors am distalen Radiusende. Wertigkeit der DNS-Zytophotometrie.

The GCT is a primary bone tumor of intermedia dignity, whereby the forecast of the biological behaviour and outcome is impossible on the base of the conventional histological diagnosis. The authors observed in one of their GCT-patients a malignant transformation of the formerly benign tumor. Through announcement of their case the authors want to call the attention to the importance of the DNA-Cytophotometry and to their possible future additional role in the diagnostics of the GCT and in the prediction of their biological behaviour.

Warthin-like tumor of the thyroid a case report.

A case of Warthin-like tumor of the thyroid (WaLTT) with cervical lymph node metastasis is presented. The problems of the FNA diagnosis of this type of tumor is discussed as well as the histogenesis, nature and behaviour of this peculiar tumor.

Desmoplastic small round cell tumour of the pleura: a case report with further cytogenetic and ultrastructural evidence of 'mesothelioblastemic' origin.

A typical case of desmoplastic small round cell tumour of the pleura in a 25-year-old man is described. In addition to the typical histological and immunohistological findings, the EWS-WT1 fusion product was also observed. Ultrastructurally, some tumour cells displayed intracytoplasmic neolumina, with short microvilli characteristic of submesothelial cells. These findings support the theory of a splanchnopleuric intraembryonic mesodermal, 'mesothelioblastemic' origin, both morphologically and cytogenetically.

[The role of cathepsins and the plasminogen activator/inhibitor system in colorectal cancer]. / A cathepsinek és a plasminogen activator/inhibitor rendszer viselkedése colorectalis carcinomában.

Cysteine proteases [Cathepsin B and L (CATB, CATL)] and the serine protease urokinase type plasminogen activator (UPA) with its inhibitor type-1 (PAI-1) are thought to play an important part in colorectal cancer invasion and metastasis. To our knowledge, however, cathepsins and plasminogen activator/inhibitor system have not been evaluated in the same study. The authors using the ELISA method, determined the protease antigen concentrations in colorectal cancer tissue and in normal tissue distant from tumour, in 35 patients with colorectal cancer. They also evaluated the relationship that these proteases may have with the major histomorphological parameters and tumour staging. Significantly higher antigen levels were found: 1. in cancerous tissue vs. tumour free tissue (CATB, CATL, UPA, PAI-1); in colorectal cancer with vs. without metastasis (CATB, CATL, UPA, PAI-1); 3. in poorly vs. well differentiated tumours (CATB, UPA, PAI-1); 4. in advanced Dukes' stages (CATB, UPA, PAI-1). The simultaneous activation of cathepsins and plasminogen activator/inhibitor system in colorectal cancer confirms their role in colorectal tumor biology and particularly in the process of invasion and metastasis. Our results suggest the possible prognostic impact of these proteases in colorectal cancer.

High mitotic index associated with poor prognosis in gastrointestinal autonomic nerve tumour.

AIMS: Three gastrointestinal autonomic nerve tumours (GANT) were characterized by immunohistochemistry and flow cytometry. Two of the three cases occurred in the small intestine, while the third was found in the stomach. Besides the immunohistochemical and ultrastructural description, the aim of this study was to examine the relation between the known and accepted predictive factors (ploidy data, the S-phase fraction, the mitotic and MIB-1 index and the size of the tumour) and the survival of the patients. METHODS AND RESULTS: The immune profile showed that 3/3 cases were vimentin and NSE, 2/3 were synaptophysin and PGP 9.5 positive, while 1/3 also showed S100 positivity. Ultrastructurally, all the cases had dense core granules, one of them contained skenoid fibres. The flow cytometry revealed diploid DNA in all cases, however, significant differences could be seen in the proliferative activity of the individual neoplasms. CONCLUSIONS: In spite of the published data of gastrointestinal stromal tumours (GIST) generally, neither the MIB-1 index and the ploidy data nor the size of the primary tumour helped to predict the clinical progression of the examined GANTs. However, the high proliferative activity (57 mitoses/10 HPF) and the elevated S-phase fraction (24%) was associated with advanced, metastatic and recurring disease in case 3. On the basis of these three cases, high mitotic activity is the most reliable factor in predicting aggressive clinical behaviour.

[Occurrence of Helicobacter pylori in patients with gastroesophageal tumors]. / Helicobacter pylori elöfordulása gastrooesophagealis daganatos megbetegedésekben.

Authors examined the occurrence of H. p. retrospectively in bioptic material for three years. Fifty-one oesophageal and gastric tumorous patients were examined and as a control fourty-seven non tumorous patients with chronic gastritis chosen at random. The demonstration of H. p. was performed by modified Giemsa stain. Different types of chronic gastritis, forms and localisation of the tumours as well as their relation with sex and age were investigated. The occurrence of H. p. was higher in chronic gastritis than in tumorous processes. Seventy-one % H. p. positivity was found in the control group against 17.6% in the tumorous patients.

The prognostic significance of DNA cytophotometry and proliferation index (Ki-67) in giant cell tumors of bone.

We studied DNA ploidy by smear cytophotometry and proliferation activity by Ki-67 MIB immunohistochemistry in 69 primary and recurrent giant cell tumors (GCT) from 50 randomly selected patients. The obtained results were evaluated with comparisons made to the available clinical data. From the 46 primary tumors 63% showed diploidy and 37% aneuploidy. A significantly (P=0.026) higher recurrence rate (64%) was observed in aneuploid than in diploid tumors (31%). In the course of the recurrences, both the ratio of aneuploid tumors as well as the proliferation index of the tumors increased, though the degree of the latter was non-significant. Aneuploidy did not mean an unambiguous tendency towards malignant transformation; however, a close follow-up of recurrent aneuploid tumors, and wide excision of the recurrence instead of intralesional curettage are the recommended procedures. The DNA cytophotometry and proliferation index of GCTs--as compared to other histologic examinations--are of prognostic value in the evaluation of the recurrence potential of the GCTs.

[Dual fluorescence in situ hybridization analysis of synovial sarcoma]. / Synovalis sarcoma kettös jelölésü fluorescens in situ hibridizációs vizsgálata.

Synovial sarcoma have (about in 95% of the cases) the specific and characteristic reciprocal chromosomal translocation t(X; 18) (p11.2; q 11.2). Application of dual-colour fluorescence in situ hybridization (FISH) on interphase nuclei to identify the specific translocation has a diagnostic importance for daily pathological practice. For visualisation of the translocated chromosomal fragments of synovial sarcoma cells on imprint smears, chromosome X painting probes and chromosome 18 centromeric probes were used. Our present study indicates that the precise preoperative diagnosis of synovial sarcoma using dual-colour FISH is possible on smears and this possibility (to identify specific chromosomal translocations in soft tissue tumours) is a landmark in the preoperative diagnosis of soft tissue sarcomas.

[Kearns-Sayre syndrome]. / Kearns-Sayre-szindróma.

The authors describe a rare group of symptoms, resulting in progressive external ophthalmoplegia, retinal pigment epithelial dysfunction and cardiac conduction disturbance. The illness belongs to the group of mitochondrial cytopathies. The case extends over the diagnostic possibilities, with special attention on electromyographic diagnostic, clinical symptoms, pathomechanism of the disease, and the therapic possibilities.

[Merkel cell tumor]. / Merkel-sejtes daganat.

Merkel cell cancer is a rare carcinoma arising from the neuroendocrin cells of the skin. The diagnosis is based on the clinical behaviour, histopathologic and ultrastructural findings and immunohistochemical results. An unusual case of Merkel cell carcinoma is presented. Mass from the umbiculus and a right inguinal lymph node was excised in a 63-year-old female. The histologic features of a typical, primitive small cell tumor combined with the immunohistochemical evaluations established the diagnosis. Rare polynuclear giant cells were focally present in our case. Patient was treated with combination of chemotherapy (Cisplatin, Etoposid) and radiotherapy. Control examinations showed complete respond. One year later metastasis developed. Resection of all known metastasis were performed. Two months after the laparotomy she died of metastatic disease. The autopsy did not reveal any other primary tumor. The capricious nature of the clinical course and the differences between this tumor and other carcinomas is emphasized.

Identification of the LAMB3 hotspot mutation R635X in a Hungarian case of Herlitz junctional epidermolysis bullosa.

The Herlitz type of junctional epidermolysis bullosa (H-JEB) is a severe blistering disease affecting the skin and mucous membranes, which is usually lethal within the first year of life. The laminin 5 genes have been implicated as candidate genes for most patients with H-JEB. Recently, two hotspot mutations were delineated in the LAMB3 gene, known as R42X and R635X, and have been noted in over 50% of mutant LAMB3 alleles. Here, we present a case of H-JEB of Hungarian origin with a neonatal lethal outcome. Monoclonal antibody staining showed a lack of expression of the laminin 5 beta 3 chain, as a possible result of a mutation in one of the laminin 5 genes. Screening of the family identified the previously described mutation R635X in exon 14 of LAMB3 in each of the parents and one healthy sibling in the heterozygous form, while proband was homozygous for R635X, and the other sibling proved to be genotypically normal. These results underscore the widespread prevalence of R635X in H-JEB cases from around the world.

[Aspiration cytology in gastroenterologic endoscopy]. / Aspiratiós cytologia a gastroenterologiai endoscopiában.

The aspiration cytology is a long since well proved method in the diagnosis of near to the body surface alterations in the gastrointestinal tract. The endoscopic fine needle aspiration is a less wide-spread method. Fine needle aspiration cytology has been described as 70-94% accurate for diagnostic upper gastrointestinal tract malignant lesions, and more than 90-99% accurate when used in conjunction with traditional endoscopic forceps biopsy. This technique was performed on 97 consecutive patients parallel with conventional endoscopic biopsy. Sensitivity of the method 86.8%, specificity 98.3%, predictive value in positive cases 96.6%, and in negative cases was 91%. Authors would like to prove with illustrative cases how this technique can be used for the diagnosis of gastrointestinal lesions, primarily in submucosal processes.