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Abstract The NOD2 gene has been associated with susceptibility to Crohn's disease and individuals with Crohn's disease are at increased risk for cancer at a number of organ sites. We studied the association between the 3020insC allele of the NOD2 gene and cancer among 2604 cancer patients and 1910 controls from Poland. Patients were diagnosed with one of twelve types of cancer in the Szczecin region between 1994 and 2004. Significant associations were found for colon cancer (OR = 1.8; 95% CI 1.2 to 2.6), for lung cancer (OR = 1.7; 95% CI = 1.1 to 2.5) and for ovarian cancer (OR = 1.6; 95% CI 1.1 to 2.3). In addition, a significant association was found for early-onset laryngeal cancer (OR = 2.9; 95% CI 1.4 to 6.2) and for breast cancer in the presence of DCIS (OR = 2.1 95% CI = 1.2 to 3.6). The NOD2 3020insC allele is relatively common (in Poland 7.3% of individuals) and may be responsible for an important fraction of cancer cases. We estimate that the lifetime cancer risk among carriers of this allele is 30% higher than that of individuals with two wild-type alleles.

Background: Dual phase 99mTc-sestamibi SPECT/CT preoperative parathyroid scintigraphy (PPS) is seldom discussed in terms of the transport kinetics of the tracer., Objectives: To assess the relationship between the characteristic type of tracer transport in particular PPS and histopathological findings in patients with secondary hyperparathyroidism (sHPT)., Material and Methods: The study comprised 27 patients (13 females and 14 males) with sHPT. Based on tracer accumulation in early phase (EP) and delayed phase (DP), the following types of accumulation for PPS(+) lesions were identified: EP(-)/ DP(+) (type I), EP(+)/DP(+) (type II), EP(+)/DP(-) (type III). EP(-)/DP(-) (type IV) lesions constituted PPS(-) group invisible in SPECT/CT. Overall, 69 lesions 59 PPS(+) and 10 PPS(-) were evaluated histopathologically., Results: Among SPECT/CT PPS(+), types I, II and III occurred in 9 (15%), 49 (83%), and 1 (2%) lesions, respectively. The frequency of histopathological diagnosis of normal and abnormal (APG - adenoma or hyperplasia) parathyroid gland, as well as non-parathyroid (thyroid, lymph nodes, or fat) lesions differed significantly between type I, II, and III lesions (p = 0.036). APG histopathological diagnosis was significantly more frequent in lesions with type II uptake than in lesions with type I uptake (76% vs. 33%, p = 0.0197). Type II lesions had significantly higher odds for histopathological diagnosis of APG or NPG than type IV, PPS(-) lesions [odds ratio = 13.1 (95% CI: 2.75 to 63.27)]., Conclusions: For SHP patients evaluated with SPECT/CT PPS accumulation type I is a weak premise for surgeon to find parathyroid pathology. Only persistent 99mTc-sestamibi accumulation in both phases - equivocal with accumulation type II - effectively differentiates parathyroid and non-parathyroid lesions as well as indicates with high probability the presence of adenoma or hyperplasia. Type III consistent with washout pattern is rare in sHPT.

Bbackground: The aim of this paper was to analyse our own semi-quantitative method of assessing focal lesions localised in pre-operative diagnostic scintigraphy of primary hyperparathyroidism (PHPT) using 99mTc-MIBI with washout and comparing these data with the result of the histopathological examination (HP)., Material and Methods: A total of 40 (37 female, 3 male, average age 58.7 years) patients with a suspicion of PHPT were enrolled for prospective analysis. Dual phase planar and SPECT/CT examination with 99mTc-MIBI were performed. The tumour to background ratios in the 10th and 120th minute were calculated (TBR10 and TBR120) on the basis of the planar acquisition. PTH, ionised calcium and phosphate levels were measured. Parathyroid surgery alone or combined with subtotal/total thyreoidectomy was conducted in 23 (57.5%) and 17 (42.5%) patients, respectively. A HP was performed in all patients., Results: Average concentration of PTH in the whole group was 243.95 pg/ml. There was a statistically significant correlation between medians of PTH concentration and parathyroid histopathological results (p = 0.01). A total of 45 lesions of increased uptake were found in 32 (80.0%) and 34 (85%) patients in the early phase and the delayed phase, respectively. The post-operative material contained 20 (44.5%) parathyroid adenomas, 11 (24.5%) cases of hyperplasia, 2 (4.4%) cancers, 4 (8.9%) cases of normal parathyroid tissue, 2 (4.4%) lymph nodes and 6 (13.3%) cases of thyroid gland tissue. The medians of TBR10 and TBR120 for lesions examined in the HP were respectively: 3.64 and 2.59 for adenoma; 3.08 and 2.18 for hyperplasia; 7.7 and 5.5 for parathyroid cancer, 4.89 and 3.16 for normal tissue and 5.26 and 2.95 for lymph nodes or thyroid gland tissue. A high correlation coefficient of TBR10 to TBR120 in the parathyroid adenoma and parathyroid hyperplasia groups was observed with r = 0.867 and r = 0.964, respectively. The ρr correlation coefficient of TBR10 to TBR120 for normal parathyroid was 0.4. There was a statistically significant association between the HP and TBR10 medians (p = 0.047), but not between histopathology and TBR120 medians (p = 0.840)., Conclusions: The washout technique in pre-operative 99mTc-MIBI scintigraphy is effective in detecting lesions of the parathyroid (cancer, adenoma, hyperplasia, normal tissue of the parathyroid). Parathyroid cancers in semi-quantitative analysis were characterised by a slightly higher TBR. However, it is impossible to differentiate lesions based on this data. Histopathology results are significantly associated with TBR and PTH.

Background: Germline mutations of BRCA2 and NBS1 genes cause inherited recessive chromosomal instability syndromes and predispose to prostate cancer of poor prognosis. Mutations of the BLM gene cause another chromosomal instability clinical syndrome, called Bloom syndrome. Recently, a recurrent truncating mutation of BLM (Q548X) has been associated with a 6-fold increased risk of breast cancer in Russia, Belarus and Ukraine, but its role in prostate cancer etiology and survival has not been investigated yet., Methods: To establish whether the Q548X allele of the BLM gene is present in Poland, and whether this allele predisposes to poor prognosis prostate cancer, we genotyped 3337 men with prostate cancer and 2604 controls., Results: Q548X was detected in 13 of 3337 (0.4%) men with prostate cancer compared to 15 of 2604 (0.6%) controls (OR=0.7; 95% CI 0.3-1.4). A positive family history of any cancer in a first- or second-degree relative was seen only in 4 of the 13 (30%) mutation positive families, compared to 49% (1485/3001) of the non-carrier families (p=0.3). The mean follow-up was 49months. Survival was similar among carriers of Q548X and non-carriers (HR=1.1; p=0.9). The 5-year survival for men with a BLM mutation was 83%, compared to 72% for mutation-negative cases., Conclusions: BLM Q548X is a common founder mutation in Poland. We found no evidence that this mutation predisposes one to prostate cancer or affect prostate cancer survival. However, based on the observed 0.6% population frequency of the Q548X allele, we estimate that one in 100,000 children should be affected by Bloom syndrome in Poland., (© 2013 Elsevier B.V. All rights reserved.)

Oestrogen receptor α (ERα) is responsible for activation of gene transcription, while oestrogen receptor β (ERβ) serves as a negative regulator of ERα function. Since ER status is a prognostic and predictive factor in some cancers, we analysed the immunohistochemical expression of ERα and ERβ in Reed-Sternberg (RS) cells in paraffin-embedded lymph node specimens from 27 children with classical Hodgkin lymphoma (HL) in relation to histological type, clinical stage, age, and gender. Percentage of RS cells with positive nuclear reaction for the presence of ERα and/or ERβ was assessed. ERα positive RS cells were present in 11% (3/27) of lymph nodes (range 1-8%, mean 0.4%) whereas ERβ positive RS cells were detected in 96% (26/27) of lymph nodes (range 1-97.5%, mean 61.8%). The highest percentage of ERβ positive RS cells was observed in patients with the most advanced (IVB) disease as compared to patients with lower stages (90.3% vs. 56.9% respectively, p = 0.004). To the best of our knowledge this is the first report on the expression of ERβ in RS cells in children. We conclude that RS cells in classical HL in children seem to be mainly ERβ positive and ERα negative.

Rhinoscleroma is a chronic inflammatory disease in which granulation tissue with a typical cell content is found. The paper presents the case of a 77-year-old woman with clinically diagnosed nodule in the nasal cavity. The histopathological examination revealed granulation tissue with plasma cells and Mikulicz's cells. The clinical and morphological picture of the case in question is a rare opportunity to bring to mind a disease that used to be common in Poland and which clinically can imitate malignant tumour.

Gastrointestinal stromal tumors (GISTs) are the most common mesenchymal tumors of gastrointestinal tract. GISTs range from benign indolent neoplasms to highly malignant sarcomas. Gain-of-function mutations of tyrosine kinase receptors, KIT or PDGFRA, have been identified in most GISTs. In this study, we report 36 GIST patients whose tumors had homozygous KIT exon 11 mutations detected by direct sequencing of PCR products. Loss of heterozygosity in KIT locus and other chromosome 4 loci were documented in majority of these tumors. However, fluorescence in situ hybridization with KIT locus-specific probe and chromosome 4 centromeric enumeration probe showed no evidence of KIT hemizygosity in a majority of analyzed cases. These findings are consistent with duplication of chromosome 4 with KIT mutant allele. Homozygous KIT exon 11 mutations were found in 33 primary tumors and 7 metastatic lesions. In two cases, shift from heterozygosity to homozygosity was documented during tumor progression being present in metastases, but not in primary tumors. Among primary GISTs, there were 16 gastric, 18 intestinal and 2 from unknown locations. An average primary tumor size was 12 cm and average mitotic activity 32/50 HPFs. Out of 32 tumors 29 (90.6%) with complete clinicopathologic data were diagnosed as sarcomas with more than 50% risk of metastatic disease, and 26 of 29 patients with follow-up had metastases or died of disease. An average survival time among pre-imatinib patients, who died of the disease was 33.4 months. Based on these findings, we conclude that presence of homozygous KIT exon 11 mutations is associated with malignant course of disease and should be considered an adverse prognostic marker in GISTs.

The report presents 200 cases of gastrointestinal stromal tumors (GIST). The material originated from six diagnostic centers in Poland and was reclassified according to the current criteria. Among lesions other than GISTs, 14 were identified as smooth muscle tumors and seven as neural tumors. GISTs were located in the stomach (51-63.3% of the investigated series), small intestine (27.4-33.8%), colon (approximately 4.5%), abdominal cavity, i.e. in the peritoneum and omentum (6%), and in the retroperitoneal space (2.5%). A slight predominance of women was noted (53-56%). The age of the patients ranged between 14 and 93 years of life, with the mean age of 62.4 years. Individuals younger than 45 years of age accounted for 10% of the group. In ten patients (five of them less than 45 years of life), multiple tumors were detected, their number ranging from two to less than 20; these individuals constituted 5% of the entire series. Moderately and highly aggressive tumors predominated. In the series, when multiple tumors were excluded, a total of 24 epithelioid GISTs (12%) were observed; of this number, 13 were situated in the stomach, six--in the small intestine, two--in the abdominal cavity and another two in the retroperitoneal space. Synchronic tumors observed in patients with GISTs were seen in seven patients, including an adenocarcinoma of the colon, two adenocarcinomas of the stomach, a carcinoid tumor of the small intestine, a pheochromocytoma of the retroperitoneal space, an anaplastic lymphoma and a disseminated squamous cell carcinoma. In immunohistochemical reactions (CD117, CD34, SMA, S-100, DES), attention was focused on the immunoreactivity of small GISTs, below 2 cm in size, and of multiple tumors. Immunohistochemical reactions were equally differentiated as to their presence and intensity in small tumors and in highly aggressive lesions above 5-10 cm in size. In multiple GISTs, immunohistochemical tests strongly indicated the heterogeneity of neoplastic cells, which, nevertheless, showed no consistent association with the location of the tumor, its aggressiveness, cellular structure or a tendency to form multiple foci.

The study aimed to determine whether hereditary ovarian cancers that are not caused by BRCA1/BRCA2 constitutional mutations are associated with a predisposition to cystadenoma. The study consisted of two parts. Part one concerned the incidence of ovarian cystadenoma in females from families with hereditary ovarian cancer unassociated with BRCA1 mutations. The study group included 62 female patients from 29 families, without any previously diagnosed malignancy, with no proven constitutional mutation of the BRCA1 gene. The first control group was composed of 62 female patients from 53 families, without any previously diagnosed malignancy, with an identified constitutional mutation of the BRCA1 gene. The second control group comprised 124 female patients for whom the only reason for the examination was a prophylactic check-up. All studied women were subjected to intravaginal ultra- sonographic investigations. In 8 patients with benign and/or borderline ovarian cystadenoma, a complete sequencing of coding fragments of the BRCA2 gene from the peripheral blood DNA was performed. Part two of this study concerned the incidence and pattern of malignant tumors in the families of female patients with ovarian cystadenoma. The final study group included 117 patients who had 726 I0 relatives (359 females and 367 males). We concluded that cystadenoma is likely to be a characteristic feature of the subgroup of families with hereditary ovarian cancers unassociated with BRCA1/BRCA2 constitutional mutations.

The aim of the investigation was the assessment of the role of routine cytology and clonality evaluation using PCR in differential diagnosis of lymphoproliferative diseases of the orbit and eye adnexa. The investigations were carried out in cellular material collected via fine needle aspiration biopsy (FNAB) from 29 patients aged 31-82 years, including 17 women and 12 men. Apart from routine cytology, molecular-genetic studies were performed employing the PCR technique. In 21 cases histopathology was performed. In 2 patients, despite several attempts, FNAB failed to provide any diagnostic material for routine cytology. Based on cytology, non-Hodgkin's lymphoma was diagnosed in 11 patients and suspected in three. In 13 patients no firm diagnosis was possible based on cytological smears. The employment of PCR allowed for rendering the diagnosis more precise in 13 cases, confirming it in 13 patients, while in 3 cases the results of the above tests did not affect the final diagnosis. Clonality studies by PCR may be performed in material obtained through FNAB. Clonality assessment by PCR technique is very useful in differential diagnosis of lymphoproliferative disordes.

A 61-year old male, an ex-pilot of an agricultural aeroduster, with a history of a Schistosoma mansoni infection following an accident in Sudan in 1986 (an exposure to the contents of a polluted water reservoir) was diagnosed three times due to abdominal complaints. The primary diagnosis was Leśniowski-Crohn's disease. Only three years later was an appropriate diagnosis made based on histopathology of sections of the colon.

The goal of the investigation was to evaluate the validity of routine cytology and flow cytometry in the differential diagnosis of lymphoproliferative disorders of the orbit and eye adnexa. The investigations were carried out on materials originating from fine needle aspiration biopsy performed in 14 patients, including 9 females and 5 males aged 31-81 years. Apart from routine cytology, cytometric studies were also performed. Based on cytology, non-Hodgkin's lymphomas were diagnosed in six patients, while one was suspected of NHL. In seven patients the diagnosis was ambivalent, since based on cytology it was impossible to conclusively determine the biological character of the lesion, i.e. state whether it was benign or malignant. Flow cytometry was performed in 14 patients, but ultimately the results were available in 12 individuals, since in two cases the material was scant enough to exclude any assessment. Thanks to using a panel of monoclonal antibodies against light chains kappa and lambda, as well as against CD surface antigens, the authors demonstrated clonality in 90% (9/10) of NHL cases; of this number, in 7 instances the test confirmed the preliminary diagnosis and in 2 cases rendered the diagnosis more precise. On the other hand, in 3 cases no clonality was noted; of this number, in two instances the diagnosis was specified as a benign lesion (BLPL) and in one case the assessment of clonality had no impact on the final diagnosis. Out of 12 investigated aspirates, in 11 cases the result concerning clonality affected the final diagnosis. The evaluation of cellular phenotype in flow cytometry in materials obtained in the course of FNAB is a fast and sensitive method and in many cases allows for avoiding a surgical biopsy.

The purpose of this study was to define the value of angiogenesis as a prognostic factor indicating early relapse. We assessed the relationship between parameters of angiogenesis (microvessel count--MVC, microvessel area--MVA and microvessel perimeter--MVP) and relapse-free survival at 50 months in 226 women with invasive ductal breast carcinoma. Anti CD31 antibody was used as a marker of endothelial cells. Microvessel density was measured according to Weidner et al. using a computerised image analysis. The mean parameters of angiogenesis were significantly higher in women with relapse than in those without recurrence within 50 months after surgery. In node negative patients relapse did not occur if MVC was below 38.7. In node-negative subgroup with grade II carcinomas parameters of angiogenesis in the primary tumour differed significantly depending on the presence or absence of relapse. Univariate and multivariate analysis showed the prognostic value of angiogenesis parameters in all study groups with respect to 50-month relapse-free survival. In node negative subgroup only 62.5% of women with tumors with high MVC and as much as 94.9% with low MVC survived 50 months without recurrence. In the Cox analysis of node-negative subgroup only MVC, MVP and MVA were the independent prognostic factors. In women with node-negative disease the evaluation of angiogenesis can identify a subgroup of patients with high risk of relapse, hence it may help in decisions concerning adjuvant therapy. Computerised image analysis is a good and objective technique for evaluating the intensity of angiogenesis in breast cancer.