Kielce, Poland
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Miettinen M.,U.S. National Institutes of Health | McCue P.A.,Thomas Jefferson University | Sarlomo-Rikala M.,University of Helsinki | Biernat W.,Medical University of Gdańsk | And 5 more authors.
American Journal of Surgical Pathology | Year: 2015

Sox10 transcription factor is expressed in schwannian and melanocytic lineages and is important in their development and can be used as a marker for corresponding tumors. In addition, it has been reported in subsets of myoepithelial/basal cell epithelial neoplasms, but its expression remains incompletely characterized. In this study, we examined Sox10 expression in 5134 human neoplasms spanning a wide spectrum of neuroectodermal, mesenchymal, lymphoid, and epithelial tumors. A new rabbit monoclonal antibody (clone EP268) and Leica Bond Max automation were used on multitumor block libraries containing 30 to 70 cases per slide. Sox10 was consistently expressed in benign Schwann cell tumors of soft tissue and the gastrointestinal tract and in metastatic melanoma and was variably present in malignant peripheral nerve sheath tumors. In contrast, Sox10 was absent in many potential mimics of nerve sheath tumors such as cellular neurothekeoma, meningioma, gastrointestinal stromal tumors, perivascular epithelioid cell tumor and a variety of fibroblastic-myofibroblastic tumors. Sox10 was virtually absent in mesenchymal tumors but occasionally seen in alveolar rhabdomyosarcoma. In epithelial tumors of soft tissue, Sox10 was expressed only in myoepitheliomas, although often absent in malignant variants. Carcinomas, other than basal cell-type breast cancers, were only rarely positive but included 6% of squamous carcinomas of head and neck and 7% of pulmonary small cell carcinomas. Furthermore, Sox10 was often focally expressed in embryonal carcinoma reflecting a primitive Sox10-positive phenotype or neuroectodermal differentiation. Expression of Sox10 in entrapped non-neoplastic Schwann cells or melanocytes in various neoplasms has to be considered in diagnosing Sox10-positive tumors. The Sox10 antibody belongs in a modern immunohistochemical panel for the diagnosis of soft tissue and epithelial tumors. Copyright © 2015 Wolters Kluwer Health, Inc. All rights reserved.


PubMed | Jagiellonian University, University of Arkansas for Medical Sciences, University of Granada, Medical University of Lódz and 12 more.
Type: Journal Article | Journal: Oncotarget | Year: 2016

Diabetogenic single nucleotide polymorphisms (SNPs) have recently been associated with multiple myeloma (MM) risk but their impact on overall survival (OS) of MM patients has not been analysed yet. In order to investigate the impact of 58 GWAS-identified variants for type 2 diabetes (T2D) on OS of patients with MM, we analysed genotyping data of 936 MM patients collected by the International Multiple Myeloma rESEarch (IMMENSE) consortium and an independent set of 700 MM patients recruited by the University Clinic of Heidelberg. A meta-analysis of the cox regression results of the two sets showed that rs7501939 located in the HNF1B gene negatively impacted OS (HRRec= 1.44, 95% CI = 1.18-1.76, P = 0.0001). The meta-analysis also showed a noteworthy gender-specific association of the SLC30A8rs13266634 SNP with OS. The presence of each additional copy of the minor allele at rs13266634 was associated with poor OS in men whereas no association was seen in women (HRMen-Add = 1.32, 95% CI 1.13-1.54, P = 0.0003). In conclusion, these data suggest that the HNF1Brs7501939 SNP confers poor OS in patients with MM and that a SNP in SLC30A8 affect OS in men.


PubMed | Polish Academy of Sciences, AGH University of Science and Technology, Holy Cross Cancer Center and Pedagogical University of Cracow
Type: | Journal: Radiation and environmental biophysics | Year: 2017

This paper presents results of


Lizis-Kolus K.,Holy Cross Cancer Center | Kowalska A.,Holy Cross Cancer Center | Kozak-Klonowska B.,Holy Cross Cancer Center | Siolek M.,Holy Cross Cancer Center | And 3 more authors.
Endokrynologia Polska | Year: 2010

The CHEKZ gene encodes the CHK2 protein, which is kinase involved in DNA repair processes. By activating a lot of cell substrates, it can regulate the cell cycle, demonstrates suppressive effects, and participates in the senescence and apoptosis processes. Mutations in the CHEKZ gene are associated with increased risk of numerous cancers. The case described herein is that of a woman with a missense mutation that results in the substitution of isoleucine for threonine at position 157. This variant of the mutation doubles the risk of papillary thyroid carcinoma two times and causes up to 9% of these cancer. It is also associated with a two-fold increased risk of cancers of the kidney (10%), colon (10%), and ovary (10% - G1), a 1.6-fold increased risk of prostate cancer (8% of all of them and 12% of familiar ones), and a 1.5-fold increased risk of breast cancer (7%). The screening procedures were initiated in a carrier who revealed papillary thyroid carcinoma. Genetic screening of the family diagnosed her daughter as the carrier of this mutation. Until now no active cancer disease has been recognized in the daughter. On the example of the presented case we discuss indications for screening in cases of positive family history. The group especially predisposed seem to be patients with at least two coexisting carcinomas. Having diagnosed the mutation, it is necessary to do genetic screening of family members. Continuous oncological observation of the carriers of CHEK 2 mutation is essential.


Koziel D.,Jan Kochanowski University | Gluszek S.,Jan Kochanowski University | Gluszek S.,Regional Hospital | Kowalik A.,Holy Cross Cancer Center | And 2 more authors.
BMC Gastroenterology | Year: 2015

Background: Explanation of the ultimate causes of acute and chronic pancreatitis is challenging. Hence, it is necessary to seek various etiological factors, including genetic mutations that may be of importance in triggering recurrence and progression of acute to chronic pancreatitis. The aim of this study was to determine the frequency of genetic mutations in patients with acute pancreatitis and to investigate their relationship with the etiology and clinical course. Methods: The study included 221 patients treated for acute pancreatitis and 345 healthy subjects as a control group. Peripheral blood samples were collected from each study participant and genomic DNA was isolated. Genotyping of common mutations in the SPINK1 (p.N34S and p.P55S) and CTRC (p.I259V, p.V235I, p.K247_R254del, p.E225A) genes was performed using the high-resolution melting method. Mutations in the CFTR p.F508del (delF508_CTT) were genotyped using allele-specific amplification polymerase chain reaction. All detected mutations were confirmed with direct capillary DNA sequencing. Results: Mutations in SPINK 1, CFTR and CTRC were detected in 6.3%, 2.3% and 1.8% of patients with acute pancreatitis versus 3.2%, 3.8% and 1.2% of volunteers in the control group. No relationship was found between the detected mutations and severity of acute pancreatitis: mild acute pancreatitis, mutation of CFTR in 4 (2.8%) and CTRC in 2 (1.4%) patients; severe acute pancreatitis, mutation of CFTR and CTRC in 1 (2.6%) case each. The SPINK1 mutation was significantly more frequent in 8 (10.4%) severe cases than in 6 (4.2%) mild cases (P < 0.05), and was observed in 5/70 (7.1%) patients with alcohol-related AP, 5/81 (6.2%) with biliary AP, and 4/63 (6.3%) in those without any established cause of the disease. Conclusions: Mutation p.N34S in SPINK1 may predispose patients to acute pancreatitis, especially in those abusing alcohol, and may promote a more severe course of the disease. © 2015 Koziel et al.


Paleri V.,Newcastle Upon Tyne Hospitals NHS Foundation Trust | Wight R.G.,South Tees Hospitals NHS Foundation Trust | Silver C.E.,Yeshiva University | Haigentz Jr. M.,Yeshiva University | And 6 more authors.
Oral Oncology | Year: 2010

Comorbidity, the presence of additional illnesses unrelated to the tumor, has a significant impact on the prognosis of patients with head and neck cancer. In these patients, tobacco and alcohol abuse contributes greatly to comorbidity. Several instruments have been used to quantify comorbidity including Adult Comorbidity Evaluation 27 (ACE 27), Charlson Index (CI) and Cumulative Illness Rating Scale. The ACE 27 and CI are the most frequently used indices. Information on comorbidity at the time of diagnosis can be abstracted from patient records. Self-reporting is less reliable than record review. Functional status is not a reliable substitute for comorbidity evaluation as a prognostic measure. Severity as well as the presence of a condition is required for a good predictive instrument. Comorbidity increases mortality in patients with head and neck cancer, and this effect is greater in the early years following treatment. In addition to reducing overall survival, many studies have shown that comorbidity influences disease-specific survival negatively, most likely because patients with high comorbidity tend to have delay in diagnosis, often presenting with advanced stage tumors, and the comorbidity may also prompt less aggressive treatment. The impact of comorbidity on survival is greater in younger than in older patients, although it affects both. For specific tumor sites, comorbidity has been shown to negatively influence prognosis in oral, oropharyngeal, laryngeal and salivary gland tumors. Several studies have reported higher incidence and increased severity of treatment complications in patients with high comorbidity burden. Studies have demonstrated a negative impact of comorbidity on quality of life, and increased cost of treatment with higher degree of comorbidity. Our review of the literature suggests that routine collection of comorbidity data will be important in the analysis of survival, quality of life and functional outcomes after treatment as comorbidity has an impact on all of the above. These data should be integrated with tumor-specific staging systems in order to develop better instruments for prognostication, as well as comparing results of different treatment regimens and institutions. © 2010 Elsevier Ltd. All rights reserved.


Wincewicz A.,Jan Kochanowski University | Wincewicz A.,Non Public Health Care Unit | Kowalik A.,Holy Cross Cancer Center | ZiEba S.,Holy Cross Cancer Center | And 5 more authors.
International Journal of Surgical Pathology | Year: 2015

Here we present the case of a 73-year-old woman with an ulcerated, advanced, hepatoid, and α-fetoprotein-producing poorly differentiated (G3) primary gastric adenocarcinoma pT3 N3a M1 with multinucleated cells and evident neuroendocrine component. This tumor was consistent with giant cell tumor type gastric carcinoma with osteoclast-like giant cells (OGCs). The cancer was HER2 and E-cadherin negative, chromogranin A dispersedly and moderately positive, and strongly α-fetoprotein-positive with evident CK AE1/AE3 immunoreactivity, while OGCs expressed CD68. To provide an insight into the molecular background of this peculiar neoplasm, next-generation sequencing (NGS) was performed to analyze the 50 most frequently mutated oncogenes and tumor suppressors. We detected mutations in the primary tumor in the following genes: KIT, EGFR, PTEN, ATM, and RB1. In the liver metastasis, we revealed mutations in 3 genes: PIK3CA, KIT, and CDKN2A. © The Author(s) 2015.


PubMed | Medical University of Bialystok, Holy Cross Cancer Center and Jan Kochanowski University
Type: Case Reports | Journal: International journal of surgical pathology | Year: 2015

Here we present the case of a 73-year-old woman with an ulcerated, advanced, hepatoid, and -fetoprotein-producing poorly differentiated (G3) primary gastric adenocarcinoma pT3 N3a M1 with multinucleated cells and evident neuroendocrine component. This tumor was consistent with giant cell tumor type gastric carcinoma with osteoclast-like giant cells (OGCs). The cancer was HER2 and E-cadherin negative, chromogranin A dispersedly and moderately positive, and strongly -fetoprotein-positive with evident CK AE1/AE3 immunoreactivity, while OGCs expressed CD68. To provide an insight into the molecular background of this peculiar neoplasm, next-generation sequencing (NGS) was performed to analyze the 50 most frequently mutated oncogenes and tumor suppressors. We detected mutations in the primary tumor in the following genes: KIT, EGFR, PTEN, ATM, and RB1. In the liver metastasis, we revealed mutations in 3 genes: PIK3CA, KIT, and CDKN2A.


PubMed | Holy Cross Cancer Center and Jan Kochanowski University
Type: | Journal: BMC gastroenterology | Year: 2015

Explanation of the ultimate causes of acute and chronic pancreatitis is challenging. Hence, it is necessary to seek various etiological factors, including genetic mutations that may be of importance in triggering recurrence and progression of acute to chronic pancreatitis. The aim of this study was to determine the frequency of genetic mutations in patients with acute pancreatitis and to investigate their relationship with the etiology and clinical course.The study included 221 patients treated for acute pancreatitis and 345 healthy subjects as a control group. Peripheral blood samples were collected from each study participant and genomic DNA was isolated. Genotyping of common mutations in the SPINK1 (p.N34S and p.P55S) and CTRC (p.I259V, p.V235I, p.K247_R254del, p.E225A) genes was performed using the high-resolution melting method. Mutations in the CFTR p.F508del (delF508_CTT) were genotyped using allele-specific amplification polymerase chain reaction. All detected mutations were confirmed with direct capillary DNA sequencing.Mutations in SPINK 1, CFTR and CTRC were detected in 6.3%, 2.3% and 1.8% of patients with acute pancreatitis versus 3.2%, 3.8% and 1.2% of volunteers in the control group. No relationship was found between the detected mutations and severity of acute pancreatitis: mild acute pancreatitis, mutation of CFTR in 4 (2.8%) and CTRC in 2 (1.4%) patients; severe acute pancreatitis, mutation of CFTR and CTRC in 1 (2.6%) case each. The SPINK1 mutation was significantly more frequent in 8 (10.4%) severe cases than in 6 (4.2%) mild cases (P < 0.05), and was observed in 5/70 (7.1%) patients with alcohol-related AP, 5/81 (6.2%) with biliary AP, and 4/63 (6.3%) in those without any established cause of the disease.Mutation p.N34S in SPINK1 may predispose patients to acute pancreatitis, especially in those abusing alcohol, and may promote a more severe course of the disease.


PubMed | Holy Cross Cancer Center and Jan Kochanowski University
Type: Journal Article | Journal: BMC gastroenterology | Year: 2017

The aim of the study was to determine the relationship between the presence of p.G60=polymorphism (c.180C>T; rs497078) CTRC and the incidence together with the clinical course of acute pancreatitis (AP).Two hundred ninety-nine people suffering from AP and 417 healthy volunteers were subjected to the study. DNA was isolated from blood samples.CTRC p.G60=polymorphism (c.180C>T) occurred more frequently in the AP group (p=0.015). The CT and TT genotype was found in 27.8% of the AP patients and in 19.9% of the healthy subjects (p=0.017). No significant correlation was found between having the CT and TT genotype and the severity of the AP clinical course. In 6 patients (2%) with the CT genotype, a SPINK1 gene mutation was found, while in the control group it was found in 3 patients (0.7%), (p>0.05). All patients with the present SPINK1 mutation with the CT genotype had a moderate or a severe course of the disease (p=0.0007).CTRC polymorphism Hetero p.G60=; c.180C>T increases the risk of an AP occurrence and together with the SPINK 1 mutation, may be responsible for a more severe course of the disease.

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