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The hematologist is at the forefront of specialists to whom patients with Gaucher disease present because of cytopenia and hepatosplenomegaly. Usually, patients with such symptoms have undergone trephine biopsy. We present the cases of two patients in whom Gaucher disease was suspected because of the discovery of Gaucher cells in trephine biopsy, and subsequently confirmed via enzymatic and molecular investigations. (Folia Histochemica et Cytobiologica 2011; Vol. 49, No. 2, pp. 352–356)

Cutaneous T cell lymphomas other than mycosis fungoides, Sezary syndrome, and primary cutaneous CD30+ lymphoproliferations constitute less than 10% of all cutaneous T cell lymphomas. Primary cutaneous small/medium CD4+ T cell lymphoma is a member of this third group of cutaneous lymphomas, separated out as provisional entity in the World Health Organization classification – European Organization for Research and Treatment of Cancer (WHO-EORTC) classification. It still awaits development of more precise diagnostic criteria and optimal therapy. We report a case of primary cutaneous CD4 + small/medium-sized pleomorphic T cell lymphoma accompanied with myelodysplastic syndrome successfully treated with cyclophosphamide. It seems that cyclophosphamide as a single-agent chemotherapy in patients with disseminated lesions might be safe and quite effective therapeutic option.

Objectives:Alterations of p53 pathway (p14ARF/MDM2/p53) play a crucial role in the development and progression of various human neoplasms, including endometrial carcinoma (EC). The aim of the current research was to examine the p14ARF expression pattern in primary ECs and corresponding metastatic lesions.Materials and Methods:We studied 47 primary ECs and corresponding metastatic lesions applying immunohistochemistry and investigated the relationship between p14ARF overexpression and clinicopathological variables of carcinoma as well as TP53 alterations.Results:Protein expression was predominantly nuclear, present in 32 (68%) of 47 primary cases and in 28 (60%) of 47 metastatic lesions. There were seven p14ARF-positive primary tumors showing negative reactivity in the metastatic lesions. On the other hand, 3 cases lacked protein immunoreactivity in the primary ECs but revealed weak nuclear staining in the corresponding metastases. A case of primary cervical adenocarcinoma metastasizing to the lymph nodes showed p14ARF expression both in the primary tumor and the corresponding metastases. A trend was found between the p14ARF expression in primary tumors and the presence of the neoplasms in the fallopian tube (P = 0.063), but none of the other clinicopathological variables of carcinoma was related to protein immunoreactivity in advanced-stage uterine neoplasms. The p14ARF expression in EC metastases was related to the presence of the primary tumor in the fallopian tube (P = 0.036). The p14ARF expression was not associated with unfavorable outcome both in the primary tumors (P = 0.302) and in the corresponding metastases (P = 0.217). There was also no relationship between the p14ARF expression pattern and TP53 pathway alterations.Conclusions:Altogether, the p14ARF protein is expressed in more than half of the primary ECs and metastatic lesions analyzed and is associated with the transtubal dissemination of the primary tumor. The pattern of the p14ARF expression is not associated with the alterations of other TP53 pathway members in advanced-stage human ECs.

Loss of heterozygosity (LOH) is implicated in the initiation and progression of various human neoplasia, and is observed in both early or in advanced-stage human cancers. The current study was aimed at investigating the frequency of LOH TP53 in human endometrial carcinoma (EC) metastases. LOH was analyzed using 3 intragenic polymorphisms in 38 primary ECs and corresponding metastatic lesions. Allelic loss at intron 1 was detected in 14 out of 38 (37%) primary carcinomas and in 11 out of 38 (29%) metastatic lesions. LOH at intron 1 in primary and metastatic tumors was concomitantly noted in 8 out of 38 (21%) cases. LOH at intron 4 was seen in 46% (17 out of 37) primary ECs and in 35% (13 out of 37) metastatic lesions. LOH at intron 4 in primary tumor/metastasis was concomitantly demonstrated in 27% (10 out of 33) cases. Allelic loss at exon 4 was detected in 5 out of 33 (15%) primary ECs and in one out of 33 (3%) corresponding metastases. Coexistence of LOH TP53 in primary ECs with metastases at intron 1 and intron 4 was observed in three out of 33 (9%) cases. Correlation between allelic loss at intron 1 in primary ECs and corresponding metastases was found (R = 0.475, p = 0.003). Moreover, there was correlation between LOH at intron 1 in metastastic ECs and allelic imbalance at intron 4 in primary uterine tumors (R = 0.416, p = 0.01). There was a relationship between LOH at intron 4 in primary ECs and corresponding metastatic lesions (R = 0.457, p = 0.004). LOH TP53 at intron 4 correlated with the presence of the neoplasm in the uterine cervix (R = 0.319, p = 0.049), and with the non-endometrioid type of primary tumor (R = 0.371, p = 0.024). There was a significant correlation between exon 4 LOH and patient age (less or equal to 50 years and above this age; R = -0.375, p = 0.032). p53 overexpression was present in thirteen out of 38 (34%) cases, both in primary ECs and in metastatic lesions. Overexpression of p53 was higher in non-endometrioid ECs (three out of 5; 60%) than in endometrioid-type uterine tumors (ten out of 33; 30.3%; p = 0.315). p53 overexpression correlated with the presence of cancer in the lumen of fallopian tube(s) (R = 0.032, p = 0.046), and with allelic loss at intron 1 in primary ECs (R = 0.599, p = 0.0001). In conclusion, LOH occurs not only in primary uterine tumors but also in corresponding metastases, with the higher incidence being reported at intron 4 of the TP53. A significant link existed between LOH TP53 at intron 1 and p53 overexpression in primary ECs, but not in the corresponding metastatic lesions.

Uterine carcinosarcoma (malignant mixed Mullerian tumor) is an uncommon female genital tract neoplasm characterized by an admixture of epithelial and stromal malignant cells. We report a case of 50-year-old peri-menopausal woman diagnosed to have early-stage (IB due to FIGO) uterine carcinosarcoma of the homologous type with superficial (3mm) myo-invasion. The patient showed no clinical symptoms of the disease and had no family history of female genital tract malignancies. Positive immunostaining for steroid receptors (estrogen-alpha and progesterone receptors), cytokeratin, and EGFR was detected only in the carcinomatous area, whereas beta-catenin, BCL-2, COX-2, p16(INK4a), PTEN, RB-1, and vimentin were immunoreactive in both components. Androgen receptor, CD10, desmin, HER-2/neu, and P53 were found to be negative either in the carcinomatous or in the sarcomatous area. Tumor proliferative activity was higher in the carcinomatous (25%) than in the sarcomatous (2%) component. Based on these findings, immunohistochemical evaluation of multiple receptor status in the carcinomatous and sarcomatous areas of carcinosarcoma may provide a clue to the pathogenesis and hormonal receptor status of this uncommon uterine malignancy.

Background There have been a limited number of studies giving the incidence of plearal metastasis from female genital tract tumors. Case An unusual case occurred of recurrent pleural malignant effusion associated with disseminated serous papillary endometrial adenocarcinoma (EC). A total abdominal hysterectomy with bilateral salpingo-oophorectomy, pelvic lymphademectomy, appendectomy and omentectomy was performed. Trentment of the pleural malignant effasion consisted of thoracotomy with partial decortication, systemic chemotherapy and radiotherapy. The patient died of circulatory failure 8 months after the primary diagnosis Conclusion Although the plcura is a race site of widespread EC, one should recognize the possibility of pleural spread from female genital tract neoplasms presenting with associated symptoms. Cytopathologic examination of the pleural effusion and the finding of arrcinoma cells mandate an investigation for the primary site of the neophasm by a multidisciplinary group.

Primary malignant lymphoma occurring in the uterine cervix is a rare event. We report a case of primary non-Hodgkin's lymphoma of the uterine cervix mimicking leiomyoma. The immunophenotype of the tumor and the differential diagnostic approach to this uncommon malignancy also are presented.

We describe the immunohistochemical profile of rare primary squamous carcinoma of the clitoris metastasizing to the bilateral inguinal lymph nodes. Several antigens were assessed immunohistochemically (pRb1, p16INK4A, cyclin D1, cdk4, estrogen receptor (ER), progesterone receptor (PR), androgen receptor (AR), p53, Ki-67, p27KIP1, PTEN, hMLh1, phospho-AKT, collagen IV, leptin and CD90) in both tumors. All the antibodies applied revealed a staining pattern that is typical of primary and metastatic carcinomas. Cyclin D1-cdk4 complex was overexpressed, whereas there was no p16INK4A immunostaining. Moreover, both tumors expressed positivity for p53 protein, but were negative for estrogen and progesterone receptors. The proliferative activity of cancer, assessed by MIB-1 Proliferative Index, amounted to 25% either for primary or for metastatic tumors. As a conclusion, immunohistochemical assessment of various cell-cycle-associated molecules yield clues as to their possible function during the process of spread of rare neoplasm originating from the clitoris.

We examined loss of heterozygosity (LOH) at the TP53 gene in primary human endometrial carcinomas (EC), and investigated the relationship between allelic loss, p53 protein overexpression, pRb-1 pathway alterations and MIB-1 proliferative activity. Applying the non-isotopic PCR-RFLP/VNTR-silver staining techniques, we investigated TP53 LOH in 46 tumors at four polymorphic loci. Out of 42 informative carcinomas, LOH was found in 19% of the cases studied. In general, there was no significant relationship between LOH and the clinical and pathological variables of cancer, including patient age, clinical stage, histological grade or depth of myometrial invasion. Interestingly, none of 7 tumors associated with hyperplasia revealed allelic imbalance, whereas 8 of 27 (30%) tumors without hyperplasia exhibited LOH (p = 0.312; Fisher’s exact test). Overexpression of nuclear p53 was not correlated with allelic loss at TP53 (p = 0.336, Fisher’s exact test). It is worth pointing out that p53 immunoreactivity was significantly related to proliferative activity of cancer (R = 0.42, p = 0.0037; Spearman’s rank correlation test). A tendency towards a poorer outcome was reported in EC patients displaying TP53 LOH during short-time follow-up (p = 0.093; log-rank test). None of the tumors simultaneously showed LOH at TP53 and RB1 genes(R = –0.211, p = 0.16; Spearman’s rank correlation test). p16INK4A alterations (LOH and gene deletion) occurred concomitantly, with 3 tumors showing the TP53 allelic loss, whereas the cyclin D1/cdk4 complex was overexpressed in a case with TP53 LOH. Altogether, losses at TP53 were not associated with p53 nuclear overexpression, but may affect a subset of EC patients characterized by an unfavorable prognosis at short-time follow-up. Allelic loss at TP53 seems to arise independently of LOH at the RB1 gene in carcinomas of the uterine corpus in humans. Disruptions at p16INK4A and/or cdk4/cyclin D1 concomitantly occurring with TP53 LOH may participate in the development of a subset of endometrioid-type ECs.

To assess the clinico-prognostic relevance of the cell surface carbohydrate glycoprotein in normal and pathological conditions of human endometrium, Sialosyl-Tn (STn) antigen was immunohistochemically studied in normal (n = 10), hyperplastic (n = 18), and neoplastic (n = 60) endometrial lesions. There was no STn antigen reactivity in the proliferative endometrial slides, while weak staining was observed in all secretory endometria. STn expression was noted in 8/18 (44%) hyperplastic endometrial cases and in 40/60 (67%) endometrial carcinomas. Positive staining was observed throughout the cytoplasm of the glandular cancer cells, at the cell membranes, and in an intraluminar mucus. This antigen was mostly expressed heterogeneously as far as the distribution of positive cells is concerned. There was a statistically significant association between STn expression and the histological grading of cancer (p = 0.019). Advanced clinical stage (III-IV; p = 0.014) and infiltration of the myometrial wall (more than 1/2 of the myometrial wall; p = 0.004), but no STn immunoreactivity, were reported to be independent prognostic variables during follow-up. Our study shows that a) STn is not constantly expressed during the menstrual cycle, and is increased at the secretory phase of the cycle; b) Sialosyl-Tn reactivity decreases with the degree of tumor differentiation, but there was no relationship with other clinicopathological variables of cancer; c) this cell surface carbohydrate glycoprotein does not appear to predict the outcome of endometrial cancer patients.

Intravascular lymphoma (IVL) is a rare aggressive disease characterised by the presence of lymphoma cells only in the lumina of small vessels, particularly capillaries. Only about 200 cases have been reported in the world (some of them retrospectively). IVL is predominantly of B-cell lineage origin but occasionally T-cell lineage occurs. Multiple organs may be involved and a variety of clinical presentations have been described. These include nephrotic syndrome, pyrexia and hypertension, breathlessness and haemolytic anaemia, leukopoenia, pancytopoenia and disseminated intravascular coagulation. We report a case of a 38-year-old woman with a highly aggressive clinical course of IVL. She was admitted to the Department of Neurosurgery because of spondylolisthesis of L5-S1 qualified to surgery. During hospitalisation haemolytic anaemia, thrombocytopoenia and splenomegaly were observed and she was admitted to the Department of Haematology for diagnosis. During her staying in the hospital, new symptoms, such as kidney and liver failure, occurred and the central nervous system was involved. The clinical course was very rapid and progressive. Corticosteroid therapy was started but the disease soon led to the fatal outcome. Diagnosis was established at post-mortem examination.

TGFβ signaling cascade plays a vital role in neoplastic transformation, but the function of betaglycan, which is a TGFβ accessory receptor, is still unknown in particular cancer. Evaluation of betaglycan expression both at mRNA (real-time PCR) and protein (ELISA) level in the context of TGFβ canonical signaling components, i.e., TGFβ1, TGFβ2, and TGFβRII, in endometrial carcinomas was performed. Betaglycan mRNA expression level was significantly (p < .001) downregulated with simultaneous betaglycan protein level upregulation in cancer samples. Obtained results suggest that endometrial cancer is associated with disruption of accessory receptor betaglycan expression, what may alter TGFβ2-induced signaling.

Cutaneous T cell lymphomas other than mycosis fungoides, Sezary syndrome, and primary cutaneous CD30+ lymphoproliferations constitute less than 10% of all cutaneous T cell lymphomas. Primary cutaneous small/medium CD4+ T cell lymphoma is a member of this third group of cutaneous lymphomas, separated out as provisional entity in the World Health Organization classification - European Organization for Research and Treatment of Cancer (WHO-EORTC) classification. It still awaits development of more precise diagnostic criteria and optimal therapy. We report a case of primary cutaneous CD4 + small/medium-sized pleomorphic T cell lymphoma accompanied with myelodysplastic syndrome successfully treated with cyclophosphamide. It seems that cyclophosphamide as a single-agent chemotherapy in patients with disseminated lesions might be safe and quite effective therapeutic option.

Alterations of p53 pathway (p14(ARF)/MDM2/p53) play a crucial role in the development and progression of various human neoplasms, including endometrial carcinoma (EC). The aim of the current research was to examine the p14(ARF) expression pattern in primary ECs and corresponding metastatic lesions.We studied 47 primary ECs and corresponding metastatic lesions applying immunohistochemistry and investigated the relationship between p14(ARF) overexpression and clinicopathological variables of carcinoma as well as TP53 alterations.Protein expression was predominantly nuclear, present in 32 (68%) of 47 primary cases and in 28 (60%) of 47 metastatic lesions. There were seven p14(ARF)-positive primary tumors showing negative reactivity in the metastatic lesions. On the other hand, 3 cases lacked protein immunoreactivity in the primary ECs but revealed weak nuclear staining in the corresponding metastases. A case of primary cervical adenocarcinoma metastasizing to the lymph nodes showed p14(ARF) expression both in the primary tumor and the corresponding metastases. A trend was found between the p14(ARF) expression in primary tumors and the presence of the neoplasms in the fallopian tube (P = 0.063), but none of the other clinicopathological variables of carcinoma was related to protein immunoreactivity in advanced-stage uterine neoplasms. The p14(ARF) expression in EC metastases was related to the presence of the primary tumor in the fallopian tube (P = 0.036). The p14(ARF) expression was not associated with unfavorable outcome both in the primary tumors (P = 0.302) and in the corresponding metastases (P = 0.217). There was also no relationship between the p14(ARF) expression pattern and TP53 pathway alterations.Altogether, the p14(ARF) protein is expressed in more than half of the primary ECs and metastatic lesions analyzed and is associated with the transtubal dissemination of the primary tumor. The pattern of the p14(ARF) expression is not associated with the alterations of other TP53 pathway members in advanced-stage human ECs.

Liposarcoma is one of the most common soft tissue sarcomas in adults, but it is exceedingly rare in the gastrointestinal tract. To the authors' knowledge, only 17 cases of esophageal liposarcomas have been described in the literature.The case of a 56-year-old woman is reported who complained of dyspnea and airway obstruction and was referred for multi-slice computed tomography (MSCT) with the suspicion of mediastinal tumor. MSCT revealed a heterogeneous mass within the esophagus. The density measurements from pre- and post-contrast scanning suggested a fatty tissue component of the lesion and a possible malignant nature. The patient underwent esophagotomy. The diagnosis of liposarcoma was established. Five months after the surgery, follow-up chest MSCT was performed which revealed an inhomogeneous mass behind the left atrium. Additional CT was performed with a perfusion protocol which suggested a malignant nature of the lesion. After thoracotomy with removal of the tumor, the patient underwent adjuvant radiotherapy. The patient is still being followed up and two years after the esophagotomy has been well, with no metastases in subsequent endoscopic and CT examinations.To the authors' knowledge this is the first case of liposarcoma of the esophagus detected and postoperatively monitored using MSCT. MSCT, even as the first examination, may enable a proper diagnosis of liposarcoma in patients with atypical clinical features.

Several studies have reported that p53/mdm2 distortions play a pivotal role in the development and progression of various human malignancies. However, the number of reports having evaluated simultaneously the components of the P53-pathway alterations in advanced-stage human endometrial carcinomas (EC) is low. In this study, we examined the expression of P53/MDM2 proteins in primary and metastatic ECs, and analyzed the clinicopathological characteristics as well as the survival outcome of patients in relation to P53/MDM2 overexpression. The study group comprised 36 patients with advanced EC, whose primary and metastatic tumor slides were sufficient for analysis. Immunohistochemical assessment was made by applying anti-human P53 and MDM2 antibodies and a highly sensitive EnVision+/HPR visualization system. Nuclear P53 overexpression was seen in 11 (31%) primary ECs and 12 (33%) metastatic tumors. There was a significant correlation between P53 overexpression (in primary cancers and metastatic tumors) and MDM2 overexpression in metastatic tumors. Nuclear MDM2 overexpression was noted in 42% (15/36) of primary carcinomas and in 47% (17/36) of metastatic tumors. A significant association existed between MDM2 overexpression and histological grading (G1 + G2 versus G3, P = 0.043). P53/MDM2 overexpression occurred simultaneously in 7 out of 36 (19%) primary ECs and in 9 out of 36 (25%) metastatic lesions. Concomitant overexpression of these proteins was reported in 7 out of 36 (19%) cases and tended to be higher in tumors showing VSI compared to neoplasms lacking vascular space invasion (P = 0.051). P53 overexpression, either in primary ECs (P

There have been a limited number of studies giving the incidence of pleural metastasis from female genital tract tumors.An unusual case occurred of recurrent pleural malignant effusion associated with disseminated serous papillary endometrial adenocarcinoma (EC). A total abdominal hysterectomy with bilateral salpingo-oophorectomy, pelvic lymphadenectomy, appendectomy and omentectomy was performed. Treatment of the pleural malignant effusion consisted of thoracotomy with partial decortication, systemic chemotherapy and radiotherapy. The patient died of circulatory failure 8 months after the primary diagnosis.Although the pleura is a rare site of widespread EC, one should recognize the possibility of pleural spread from female genital tract neoplasms presenting with associated symptoms. Cytopathologic examination of the pleural effusion and the finding ofcarcinoma cells mandate an investigation for the primary site of the neoplasm by a multidisciplinary group.

Fifty children aged 8-17 years with histologically confirmed chronic gastritis were investigated for Helicobacter pylori (H. pylori) presence in gastric mucosa bioptates taken during endoscopy. Three invasive tests (histology, rapid urease test and culture) were done. H. pylori was stated in 26 patients (56%). In this group the positive results were as follows: histology--96.4%, urease test--82.1%, culture--60.7%. The consistency of positive results ranged from 60.7% to 78.6%, being most often for histology and urease test. In 91% of non-infected patients the endoscopic features were limited to erythematous, oedematous and exsudative changes of gastric mucosa, whereas in patients with H. pylori infection the prevalence of antral nodularity was noted in 60.7%. The probable causes of non compatible test results are discussed.

The mechanism stimulating the growth of nasal polyps remains unclear. The fact that nasal polyps formation is connected with increase of the epithelial surface suggests that the dysregulation of epithelial cell proliferation takes part in their pathogenesis. Furthermore, macroscopically nonsuspected nasal polyp, usually benign tissue lesion, occasionally may be misdiagnosed such as neoplasm. Only a few studies have undertaken the subject of cell proliferation in nonneoplastic respiratory epithelium. We examined 30 nasal polyps specimens by immunohistochemistry to recognize the expression of nuclear antigen present in proliferating cells, using rabbit anti-human Ki-67 antigen. Our study revealed significantly higher Ki-67 index in nasal polyps than in nasal mucosa (p0.005, tab.I). Based on this findings it seems that increased epithelial cell proliferation and chronic inflammation generate the lesion of the nasal mucosa leading to nasal polyps formation.

Genetic abnormalities and immune system disorders resulting from them are the causes of neoplastic diseases as well as inflammatory bowel disease, including Crohn's disease. However, the rearrangement of genes may not only be the cause of neoplasms but also the result of oncolytic treatment used. One of the late treatment-related complications of neoplastic diseases is the development of a second neoplasm and possible disorders belonging to the group of inflammatory bowel diseases, for example Crohn's disease. The paper presents the case of a 13-year-old boy (K.G.) treated for a second neoplasm, complicated by Crohn's disease. The patient was diagnosed with acute lymphoblastic leukaemia -- middle risk group (ALL-MRG) at the age of 3, treated according to the BFM 87 Protocol (dexamethasone, prednisone, vincristine, daunoribicin, asparaginase, cyclophosphamide, cytarabine, mercaptopurine, methotrexate, thioguanine, doxorubicin), and complete remission was achieved. Eight years after the first line treatment the boy was diagnosed with the second neoplastic process -- pre-B acute lymphoblastic leukaemia (ALL-L2 pre-B common +). The ALLIC 2002 Protocol (dexamethasone, prednisone, vincristine, daunoribicin, asparaginase, cyclophosphamide, cytarabine, mercaptopurine. methotrexate, thioguanine, doxorubicin) was started. On day 71 of the therapy, during aplasia of blood marrow following chemotherapy, inflammation of the caecum was diagnosed and metronidazole was introduced. Once blood counts improved, the complaints decreased and with continued chemotherapy of Protocol M (mercaptopurine, methotrexate), completely subsided. The symptoms reappeared during the 2-week break before Protoco II. The physical examination revealed the presence of a hard, painless tumour (3 x 10 cm) in the right iliac fossa. Colonoscopy showed a cauliflower-like formation within the Mauchin's valve projecting to the caecum lumen. The histopathological evaluation of the sections demonstrated a typical picture of Crohn's disease. Crohn's disease of the ileum was diagnosed, the treatment with dexamethazone (according to Protocol II) was instituted which led to complete regression of the iliac lesions. Steroid therapy (prednisone) continued until the treatment supporting the remission according to Protocol ALLIC 2002 (mercaptopurine, methotrexate orally) was initiated.The differential diagnosis of complications accompanying neoplasms should consider the inflammatory bowel diseases; their atypical course may be masked by the treatment of the underlying disease.

A number of studies published recently focused on the putative role of leptin in the pathogenesis of various primary human malignancies. Current study was aimed at investigating ObR, PI3-kinase, phospho-Akt kinase and PTEN proteins expression in forty-five primary human endometrioid-type endometrial carcinomas (EC). ObR immunostaining was detected in 21 of 45 (47%) ECs, presented in almost 60% of well- and moderately-differentiated tumors compared to only 17% of poorly-differentiated neoplasms (P

We examined loss of heterozygosity (LOH) at the TP53 gene in primary human endometrial carcinomas (EC), and investigated the relationship between allelic loss, p53 protein overexpression, pRb-1 pathway alterations and MIB-1 proliferative activity. Applying the non-isotopic PCR-RFLP/VNTR-silver staining techniques, we investigated TP53 LOH in 46 tumors at four polymorphic loci. Out of 42 informative carcinomas, LOH was found in 19% of the cases studied. In general, there was no significant relationship between LOH and the clinical and pathological variables of cancer, including patient age, clinical stage, histological grade or depth of myometrial invasion. Interestingly, none of 7 tumors associated with hyperplasia revealed allelic imbalance, whereas 8 of 27 (30%) tumors without hyperplasia exhibited LOH (p=0.312; Fisher's exact test). Overexpression of nuclear p53 was not correlated with allelic loss at TP53 (p=0.336, Fisher's exact test). It is worth pointing out that p53 immunoreactivity was significantly related to proliferative activity of cancer (R=0.42, p=0.0037; Spearman's rank correlation test). A tendency towards a poorer outcome was reported in EC patients displaying TP53 LOH during short-time follow-up (p=0.093; log-rank test). None of the tumors simultaneously showed LOH at TP53 and RB1 genes (R=-0.211, p=0.16; Spearman's rank correlation test). p16INK4A alterations (LOH and gene deletion) occurred concomitantly, with 3 tumors showing the TP53 allelic loss, whereas the cyclin D1/cdk4 complex was overexpressed in a case with TP53 LOH. Altogether, losses at TP53 were not associated with p53 nuclear overexpression, but may affect a subset of EC patients characterized by an unfavorable prognosis at short-time follow-up. Allelic loss at TP53 seems to arise independently of LOH at the RB1 gene in carcinomas of the uterine corpus in humans. Disruptions at p16INK4A and/or cdk4/cyclin D1 concomitantly occurring with TP53 LOH may participate in the development of a subset of endometrioid-type ECs.

Syndecan-1 is a member of the syndecan family of cell membrane heparan sulphate proteoglicans. The aim of this study was the evaluation of prognostic value of syndecan-1 expression in laryngeal cancer. The findings were correlated with the clinico-pathological parameters of the tumours, as well as with patient survival rate. Paraffin-embedded samples from 99 patients with laryngeal cancer selected from the files of the ENT-Dept. of Medical Academy in Lublin were immunostained with anti-syndecan-1 monoclonal antibody. The patients' mean age was 57 years and the over 5-year survival rate was 53.2%. Syndecan-1 immunoreactivity was observed in 99 (100%) of carcinomas. In our study, a statisti- cally significant correlation between syndecan-1 expression and patient survival rate was observed (chi2 = 9631; p = 0.008) as well as between syndecan-1 expression and various clinical stages of disease (chi2 = 6771; p = 0.034). The significant difference in the presence of syndecan-1 expression among the patients with various stage of histological differentiation of carcinoma (chi2 = 14.9; p = 0.001), and among the patients with present and absent metastatic changes in regional lymph nodes (chi2 = 16.698; p = 0.001) was observed. In a Coxs multivariate analysis syndecan-1 had an independent prognostic value (p = 0.014). Our results indicate that syndecan-1 could be used as a prognostic marker in laryngeal cancer.

The aim of this article is to present a case report of Gaucher disease which was diagnosed in patient with hepatosplenomegaly. A 43 years old man has complained of weakness, stomach pain and yellowish skin color for several years. The severity of symptoms has increased during the last 2 years. Laboratory data revealed thrombocytopenia (platelet count 108 G/l) and slightly elevated bilirubin level (1.68 mg/dl). In ultrasound examination hepatosplenomegaly was observed. Computer tomography evaluated the size of the spleen to 20 x 12 cm. Gaucher cells were found in bone marrow. The some type of cells was recognized in liver biopsy. To confirm diagnosis of Gaucher disease enzyme test was performed. Chitotriosidase level in serum was pronouncedly increased (11,540 nmol/mg protein/hr) while normal level is under 150 nmol/mg protein/hr. Glucocerebrosidase activity in leucocytes was within the limit. Thus the enzyme activity was 21.8 nmol/mg protein/hr and was below the normal range which is between 111-455 nmol/mg protein/hr. The last assay, measuring glucolukocerebrosidase activity in cultured fibroblast confirmed the diagnosis of Gaucher disease.

The aim of this study was to determine the prevalence of human papillomaviruses (HPV) types 6, 11, 16, 18, 31, 33, 42, 51, 52, 56 and 58 in laryngeal squamous cell carcinoma specimens using immunohistochemical reactions and to correlate the presence of HPV with the clinical and pathological characteristics of these patients. Tissue samples were collected from 40 patients with primary laryngeal squamous cell carcinoma (LSCC) and from 33 subjects with non-neoplastic laryngeal lesions or laryngeal nodules, which served as a control group. Human papilloma virus was detected in 6 (15%) of the 40 patients. Five (83.4%) of six patients with HPV positive tumors had G2 (moderately differentiated), one patient (16.6%) had G3 (poorly differentiated), and no patient with HPV positive tumor had a G1 (well-differentiated) tumor. Four (66.6%) of the six HPV positive tumors were in the supraglottic region, one (16.6%) tumor was located in the glottis, and one (16.6%) HPV positive tumor was in the subglotic region. Five (83.4%) of six HPV positive tumors were T3-T4, and one was T2. Three of six HPV positive patients had no clinically evident cervical lymph nodes (N0), and three of the HPV positive patients were N1 or N2. Human papillomavirus was not detected in any of the samples from the control group. The presence of HPV infection in 15% of the cases may suggest a possible role in the etiology of laryngeal squamous cell carcinoma. However, no significant correlation between HPV incidence and histological grading and clinical staging could be demonstrated.

Hypoplastic left heart syndrome is a group of relatively rare congenital malformations associated with severe obstruction of the left outflow tract. Twenty-one cases of Clinical with the syndrome were found in the autopsy files of the Department of Pathomorphology, Medical University of Lublin in the years 1991-2000. Most children were males, delivered at term, with normal body weight. None of them was surgically treated nor survived longer than one month. The most common subtype of valvular malformations included in the syndrome was aortic stenosis with mitral stenosis. In 15 cases microscopic examination revealed: recent myocardial necrosis, interstitial fibrosis and focal calcification. In 6 cases the syndrome coexisted with the congenital malformations of other systems.

Relapsing polychondritis is a very rare disease of the connective tissue in children. Inflammation may affect all cartilaginous structures. The study presents the case of a 10 years old boy with bilateral conchitis as a prominent symptom of the disease. In our patient lower airways were seriously affected. The detection of the degree of the disease in respiratory tract was facilitated to a large degree by pulmonary function tests and high resolution computed tomography. Histopathological picture of the inflamed cartilage of the tracheobronchial tree finally confirmed the diagnosis.

The study was undertaken to determine the immunoexpression of protein products of nm23 genes which are thought to be potential metastasis suppressor genes, in esophageal squamous cell carcinoma, and to analyze their relationship to selected clinicopathological features (age, sex, tumour size, depth of invasion, presence of lymph nodes and distant metastasis, pathologic tumor stage, degree of cancer differentiation and vascular/lymphatic invasion), as well as to the overall survival. Immunohistochemical staining with monoclonal antibody against nm23 using LSAB2/HRP method on formalin-fixed, paraffin-embedded sections obtained from 32 tumors was performed. Eight tumors (25%) showed positive nm23 immunoexpression. There were no statistically significant differences between nm23-positive and nm23-negative groups with respect to all clinicopathological features studied. The positive nm23 status was related to a worse prognosis but this was not significant. The results may suggest that nm23-status is not associated with metastatic ability and prognosis in esophageal squamous cell carcinoma, but such thesis requires further study on a larger population.

Derailments of the control mechanisms in the G1/S phase of the cell cycle play a fundamental role in the initiation and progression of cancer. However, only a few reports have addressed the issue of simultaneously occurring abnormalities of Rb-pathway components in malignant endometrial tumors.Currently, we assessed the expression of cell-cycle regulatory proteins (pRb, cyclin D1, p16(INK4A) and cdk4) in 48 sporadic endometrial cancers, and investigated these tumors for a possible relationship between aberrant protein staining and clinicopathological variables of cancer and RB-LOH.There was abnormal pRb, cyclin D1, p16(INK4A) and cdk4 immunoreactivity in 2%, 50%, 6% and 25% of cases, respectively. Altogether, 33 of 48 (69%) endometrial malignant tumors showed abnormal expression of at least one Rb-pathway protein immunohistochemically. However, there was significant correlation neither between the cell-cycle regulators nor between the frequency of pRb, p16(INK4A) and cyclin D1 abnormalities and clinicopathological variables of cancer, but a significant correlation did exist between cdk4 staining and the clinical stage of disease ( P0.05, Fisher's exact test). Moreover, an inverse relationship was also demonstrated between cdk4 expression and patient age ( r=-0.367; P=0.01). However, none of the cell-cycle regulatory proteins, except for pRb, was related to loss of heterozygosity at locus 13q14.As a conclusion, derailments of the Rb-pathway components, cyclin D1 and cdk4 in particular, seems to participate in the endometrial cancer development in humans. Overexpression of cdk4 was related to the progression of neoplastic disease and corresponds with age of onset, suggesting a major role of altered cdk4 immunoreactivity in the progression of endometrial cancer.

Summary The aim of the current study was to investigate the immunohistochemical expression of the retinoblastoma protein (pRB) in formalin-fixed, paraffin-embedded specimens obtained from 62 patients suffering from endometrial cancer. The avidin-biotin-peroxidase detection system with microwave pretreatment and the mouse anti-human NCL-RB1 monoclonal antibody were used. Heterogeneous nuclear immunostaining for the pRB was generally observed in the glandular cells in 59 out of 62 (95%) endometrial carcinomas, while stromal components were unreactive. In one case of stage Ic endometrioid adenocarcinoma, a small percentage of glandular cells (5%) stained positively with the anti-RB antibody, while two other tumors (stage Ila adenosquamous carcinoma and stage IIIa endometrioid adenocarcinoma) were pRB negative. In the cases with concomitant hyperplastic and neoplastic endometrial lesions, pRB immunoreaction was heterogeneous in the hyperplastic endometrial cells and in the adjacent neoplastic endometrium. Moreover, eight cases of endometrial carcinoma harboring K- ras colon 12 gene point mutation overexpressed pRB (more than 80% of glandular endometrial cells were positive) immunohistochemically, while none of three pRB negative slides had a K- ras gene alteration. Our data support the view that the pRB is expressed in most of the human endometrial neoplasms, but the lack of pRB immunoreactivity may correspond with the retinoblastoma gene rearrangements in a subset of advanced endometrial carcinomas.

Summary Background Standard procedure in cases of ovarian cancer includes surgical treatment and complementary chemotherapy based on taxanes and platinum compounds. The results of such a procedure in advanced forms of cancer are still unsatisfactory. More accurate determination of the duration of remission with cancer patients is possible through the identification of prognostic factors. Currently adopted and extensively used prognostic factors include, among others, the age of the patient at the moment of the disease being diagnosed, the degree of clinical advancement, the size of the tumour remaining after surgery, the histological type of the neoplasm, and the volume of fluid in the peritoneal cavity. Among neoplasm markers the greatest importance is attributed to the CA 125 antigen, but continued efforts are being made in the search for new, more specific and sensitive markers. Aim The objective of the study presented herein was estimation of the prognostic significance of the active form of EGFR in the serum of women with ovarian cancer in relation to their disease-free survival time. Materials/Methods The study was performed on 100 women treated for ovarian cancer in the course of four years. The concentration of the active form of EGFR was determined in the blood serum, prior to treatment, using commercial immunoenzymatic sets. Disease-free survival was defined as the time elapsed from the completion of complementary first-line chemotherapy till the appearance of clinical and/or biochemical (CA 125>30 U/ml) symptoms of relapse of the neoplastic disease. Results The concentration of the active form of EGFR fell within the range of 0.093–0.475 fmol/ml and did not show statistical significance with relation to disease-free time: the duration of the remission period was similar in patients with low as well as with high concentration of the active form of that receptor. Conclusions Examination of concentration of the active form of EGFR in blood serum prior to surgery does not display prognostic significance for prediction of the length of the period of remission or of disease-free survival.

Background. p27kip1 is a tumour suppressor gene, functioning as a cyclin-dependent kinase inhibitor, and an independent prognostic factor in breast, colon, and prostate adenocarcinomas. Conflicting data are reported for adenocarcinoma of the pancreas. The aim of this study was to establish the prognostic value of p27kip1 expression in adenocarcinoma of the pancreatic head region. Patients and methods. The study included 45 patients (male/female ratio 2:1; mean age 59, range 38–82 years) with adenocarcinomas of the pancreatic head region: 24 – pancreatic head, 18 – periampullary and 3 – uncinate process. The patients underwent the Kausch-Whipple pancreatoduodenectomy (n=39), pylorus-preserving pancreatoduodenectomy (n=5), or nearly total pancreatectomy (n=1). Eight patients received adjuvant chemotherapy postoperatively. Follow-up time ranged from 3 to 60 months. Tumours were staged according to the pTNM classification (UICC 1997). Immunohistochemistry was done on paraffin-embedded blocks from tumour sections. Quantitative determination of p27kip1 expression was based on the proportion of p27kip1 -positive cells (< 5%= negative). Survival analysis was carried out using the Kaplan-Meier method and Cox regression model. Results. Positive p27kip1 expression was detected in 22 tumours (49%), whereas 23 tumours (51%) were p27kip1-negative. There were no significant correlations between p27kip1 index and stage or lymph node involvement. Median survival time in patients with p27kip1-positive tumours was 19 months, whereas in patients with p27kip1-negative tumours it was 18 months (p=0.53). A significant relationship was found between p27kip1-negative tumours and radical resection (p=0.04). Multivariate survival analysis revealed that the localization of the tumour (pancreatic head/uncinate process vs periampullary) was the only significant and independent prognosticator (p=0.01, Cox regression model). Resection margins involvement and grade remained nearly significant prognostic factors (p=0.07 and p=0.09, respectively). Conclusion. We conclude that p27kip1 has limited overall prognostic utility in resected carcinoma of the pancreatic head region, but its potential role as a marker of residual disease needs to be further assessed.

Białko p161NK4a, inhibitor kinaz cyklinozależnych pełni istotną rolę w kontroli cyklu komórkowego (pomiędzy fazami G1 i S), za pośrednictwem białka pRB. W procesie karcinogenezy szyjki macicy kontrola cyklu komórkowego jest zaburzona przez onkogeny HPV (m.in. E7), które poprzez interakcję z pRB i uwalnianie E2F prowadzą do nadmiernej ekspresji p161NK4a. Celem pracy była ocena ekspresji białka p161NK4a w rozmazach cytologicznych i wycinkach z tarczy części pochwowej szyjki macicy u kobiet ze zmianami śródnabłonkowymi nabłonka płaskiego (SIL). Ocenie cytologicznej i immunocytochemicznej poddano rozmazy z szyjki macicy od 44 kobiet w wieku od 28–60 (śr 48) lat. Rozmazy te reprezentowały różne kategorie wg klasyfikacji Bethesda. W następnej kolejności od kobiet tych pobrano wycinki z tarczy części pochwowej szyjki macicy. Ekspresję białka p161NK4a oceniano przy użyciu przeciwciała p161NK4a, clone E6H4 firmy DAKO. Kontrolę dodatnią stanowiły wycinki z tarczy części pochwowej szyjki macicy z rakiem przedinwazyjnym szyjki macicy wykazujące intensywny dodatni odczyn immunocytochemiczny z przeciwciałem p161NK4a, kontrolę ujemną wykonano pomijając przeciwciało pierwotne. W 20 przypadkach, w których nie stwierdzono nieprawidłowych komórek nabłonka płaskiego odczyn z p161NK4a był ujemny. Dodatnie odczyny immunocytochemiczne wykazano natomiast21 z 24 przypadków ze zmianami śródnabłonkowymi (SIL) nabłonka płaskiego (p