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https://www.readbyqxmd.com/read/28214212/primary-multiple-tumor-with-affection-of-the-thyroid-gland-uterus-urinary-bladder-mammary-gland-and-other-organs
#1
А Romaniuk, M Lyndin, V Smiyanov, Vl Sikora, A Rieznik, Y Kuzenko, H Budko, Yu Moskalenko, L Karpenko, Vol Sikora, O Gladchenko
BACKGROUND: Nowadays multiple primary tumor is characterized by growth and development of two or more tumors in one patient. The total world sickness rate ranges from 1% to 37%. The presence of four or more tumors in one patient is rare case and presented as casuistry. CASE PRESENTATION: We showed a case of multiple primary tumor with metahronic lesion of the thyroid, uterus and breast, followed by synchronous benign tumors of the subcutaneous fat, urinary bladder and gallbladder were considered...
January 19, 2017: Pathology, Research and Practice
https://www.readbyqxmd.com/read/28206966/impact-of-dna-repair-gene-polymorphisms-on-the-risk-of-biochemical-recurrence-after-radiotherapy-and-overall-survival-in-prostate-cancer
#2
Chiara Zanusso, Roberto Bortolus, Eva Dreussi, Jerry Polesel, Marcella Montico, Erika Cecchin, Sara Gagno, Flavio Rizzolio, Mauro Arcicasa, Giacomo Novara, Giuseppe Toffoli
The identification of biomarkers of biochemical recurrence (BCR) in prostate cancer (PCa) patients undergoing radiotherapy (RT) represents an unanswered clinical issue. The primary aim of this study was the definition of new genetic prognostic biomarkers in DNA repair genes (DRGs), considering both BCR and overall survival (OS) as clinical end-points. The secondary aim was to explore the potential clinical impact of these genetic variants with the decision curve analysis (DCA) and the sensitivity analysis.We analyzed 22 germline polymorphisms in 14 DRGs on 542 Caucasian PCa patients treated with RT as primary therapy...
February 11, 2017: Oncotarget
https://www.readbyqxmd.com/read/28195261/immunohistochemical-evaluation-of-mismatch-repair-proteins-in-colorectal-carcinoma-the-aifeg-gipad-proposal
#3
A Remo, M Fassan, G Lanza
Microsatellite instability (MSI) is a hypermutable phenotype that usually arises from either a germline mutation in components of the mismatch repair (MMR) machinery (i.e. hMLH1, MSH2, MSH6 and PMS2) in patients with Lynch syndrome (LS) or somatic hypermethylation of the hMLH1 promoter in sporadic carcinomas. In all colorectal cancers (CRC) is possible to identify the MMR deficiency through protein expression by immunoistochemistry (IHC). Recently, the predictive role of MMR deficiency in reduced chemotherapy benefit and the introduction of universal screening for Lynch syndrome suggest to include MMR testing into routine clinical practice...
September 2016: Pathologica
https://www.readbyqxmd.com/read/28192899/comparison-of-the-mismatch-repair-system-between-primary-and-metastatic-colorectal-cancers-using-immunohistochemistry
#4
Jiyoon Jung, Youngjin Kang, Yoo Jin Lee, Eojin Kim, Bokyung Ahn, Eunjung Lee, Joo Young Kim, Jeong Hyeon Lee, Youngseok Lee, Chul Hwan Kim, Yang-Seok Chae
Background: Colorectal cancer (CRC) is one of the most common malignancies worldwide. Approximately 10%-15% of the CRC cases have defective DNA mismatch repair (MMR) genes. Although the high level of microsatellite instability status is a predictor of favorable outcome in primary CRC, little is known about its frequency and importance in secondary CRC. Immunohistochemical staining (IHC) for MMR proteins (e.g., MLH1, MSH2, MSH6, and PMS2) has emerged as a useful technique to complement polymerase chain reaction (PCR) analyses...
February 14, 2017: Journal of Pathology and Translational Medicine
https://www.readbyqxmd.com/read/28176205/correlation-between-germline-mutations-in-mmr-genes-and-microsatellite-instability-in-ovarian-cancer-specimens
#5
Mohammad R Akbari, Shiyu Zhang, Deborah Cragun, Ji-Hyun Lee, Domenico Coppola, John McLaughlin, Harvey A Risch, Barry Rosen, Patricia Shaw, Thomas A Sellers, Joellen Schildkraut, Steven A Narod, Tuya Pal
A high proportion of ovarian cancers from women who carry germline mutations in mismatch repair (MMR) genes demonstrate microsatellite instability (MSI). The utility of pre-screening ovarian cancer specimens for MSI to identify potential patients for germline screening for MMR mutations is uncertain. 656 women with malignant ovarian cancer underwent both MSI testing and germline mutation testing for large rearrangements in three MMR genes, MLH1, MSH2 and MSH6. Germline DNA sequencing data for the same genes was available...
February 7, 2017: Familial Cancer
https://www.readbyqxmd.com/read/28165350/sebaceous-carcinoma-treated-with-mohs-micrographic-surgery
#6
Kimberly L Brady, Eva A Hurst
BACKGROUND: Sebaceous carcinoma is a rare and potentially aggressive adnexal neoplasm with historic data indicating high rates of recurrence, metastasis, and cancer-specific mortality. OBJECTIVE: To evaluate the incidence of local recurrence, metastasis, disease-specific mortality, and all-cause mortality and to identify work-up approaches. PATIENTS AND METHODS/MATERIALS: Retrospective review of patients with sebaceous carcinoma treated with Mohs micrographic surgery between 2001 and 2013 at one institution...
February 2017: Dermatologic Surgery: Official Publication for American Society for Dermatologic Surgery [et Al.]
https://www.readbyqxmd.com/read/28157215/identification-of-a-genetically-defined-ultra-high-risk-group-in-relapsed-pediatric-t-lymphoblastic-leukemia
#7
P Richter-Pechańska, J B Kunz, J Hof, M Zimmermann, T Rausch, O R Bandapalli, E Orlova, G Scapinello, J C Sagi, M Stanulla, M Schrappe, G Cario, R Kirschner-Schwabe, C Eckert, V Benes, J O Korbel, M U Muckenthaler, A E Kulozik
In the search for genes that define critical steps of relapse in pediatric T-cell acute lymphoblastic leukemia (T-ALL) and can serve as prognostic markers, we performed targeted sequencing of 313 leukemia-related genes in 214 patients: 67 samples collected at the time of relapse and 147 at initial diagnosis. As relapse-specific genetic events, we identified activating mutations in NT5C2 (P=0.0001, Fisher's exact test), inactivation of TP53 (P=0.0007, Fisher's exact test) and duplication of chr17:q11.2-24.3 (P=0...
February 3, 2017: Blood Cancer Journal
https://www.readbyqxmd.com/read/28156002/lucap-prostate-cancer-patient-derived-xenografts-reflect-the-molecular-heterogeneity-of-advanced-disease-an-d-serve-as-models-for-evaluating-cancer-therapeutics
#8
Holly M Nguyen, Robert L Vessella, Colm Morrissey, Lisha G Brown, Ilsa M Coleman, Celestia S Higano, Elahe A Mostaghel, Xiaotun Zhang, Lawrence D True, Hung-Ming Lam, Martine Roudier, Paul H Lange, Peter S Nelson, Eva Corey
BACKGROUND: Metastatic prostate cancer is a common and lethal disease for which there are no therapies that produce cures or long-term durable remissions. Clinically relevant preclinical models are needed to increase our understanding of biology of this malignancy and to evaluate new agents that might provide effective treatment. Our objective was to establish and characterize patient-derived xenografts (PDXs) from advanced prostate cancer (PC) for investigation of biology and evaluation of new treatment modalities...
February 3, 2017: Prostate
https://www.readbyqxmd.com/read/28146430/intratumoral-heterogeneity-of-intrahepatic-cholangiocarcinoma
#9
Dirk Walter, Claudia Döring, Magdalena Feldhahn, Florian Battke, Sylvia Hartmann, Ria Winkelmann, Markus Schneider, Katrin Bankov, Andreas Schnitzbauer, Stefan Zeuzem, Martin Leo Hansmann, Jan Peveling-Oberhag
No personalized therapy regimens could demonstrate a benefit in survival of intrahepatic cholangiocarcinoma (iCCA). Since genetic heterogeneity might influence single biopsy based targeted therapy or the outcome of clinical trials, aim of the present study was to investigate intratumoral heterogeneity of iCCA by whole exome sequencing. Therefore, samples from tumor center and tumor periphery of large iCCA lesions as well as a control from healthy liver tissue were obtained from four patients and whole exome sequencing was performed...
January 27, 2017: Oncotarget
https://www.readbyqxmd.com/read/28137761/comprehensive-transcriptome-and-mutational-profiling-of-endemic-burkitt-lymphoma-reveals-ebv-type-specific-differences
#10
Yasin Kaymaz, Cliff I Oduor, Hongbo Yu, Juliana A Otieno, John M Ong'echa, Ann M Moormann, Jeffrey A Bailey
: Endemic Burkitt lymphoma (eBL) is the most common pediatric cancer in malaria-endemic equatorial Africa and nearly always contains Epstein-Barr virus (EBV), unlike sporadic Burkitt Lymphoma (sBL) that occurs with a lower incidence in developed countries. Given these differences and the variable clinical presentation and outcomes, we sought to further understand pathogenesis by investigating transcriptomes using RNA sequencing (RNAseq) from multiple primary eBL tumors compared to sBL tumors...
January 30, 2017: Molecular Cancer Research: MCR
https://www.readbyqxmd.com/read/28133107/-characteristics-and-outcomes-of-treatment-in-patients-with-stage-iv-colorectal-cancer-with-mismatch-repair-deficiency
#11
Keiichiro Ishibashi, Noriyasu Chika, Okihide Suzuki, Tetsuya Ito, Kunihiko Amano, Kensuke Kumamoto, Minoru Fukuchi, Youichi Kumagai, Erito Mochiki, Hideyuki Ishida
Mismatch repair(MMR)protein deficiency in colorectal cancer is well correlated with high-level microsatellite instability (MSI-H). There are little data on mismatch repair deficiency(dMMR)colorectal cancers in Japan. In addition, we have no available data on the therapeutic efficacy of oxaliplatin(oxa)-based chemotherapy, one of the standard treatment regimens for metastatic colorectal cancer, for patients with dMMR colorectal cancer. The subjects were 254 patients with Stage IV colorectal cancer whose tumors were immunohistochemically stained for MMR proteins, MLH1, MSH2, MSH6, and PMS2...
November 2016: Gan to Kagaku Ryoho. Cancer & Chemotherapy
https://www.readbyqxmd.com/read/28120777/muir-torre-syndrome-caused-by-exonic-deletion-of-mlh1-due-to-homologous-recombination
#12
Mirei Shiki, Tokimasa Hida, Kokichi Sugano, Rie Kaneko, Takafumi Kamiya, Akihiro Sakurai, Toshiharu Yamashita
BACKGROUND: Muir-Torre syndrome (MTS) is characterized by sebaceous neoplasms with internal malignancies and regarded as a variant of hereditary nonpolyposis colorectal cancer (HNPCC). Pathogenic variations of MTS have been identified in the MSH2, MLH1, and MSH6 genes, with the majority of variations located in MSH2. OBJECTIVES: To present an MTS patient who was the only individual with skin malignancies within a cancer-prone pedigree and to show the usefulness of RNA-based genetic analysis in the investigation of MTS...
January 20, 2017: European Journal of Dermatology: EJD
https://www.readbyqxmd.com/read/28118159/clear-cell-carcinoma-of-the-cervix-with-choriocarcinomatous-differentiation-report-of-an-extremely-rare-phenomenon-associated-with-mismatch-repair-protein-abnormality
#13
Pinias Mukonoweshuro, W Glenn McCluggage
The presence of trophoblastic differentiation or nongestational choriocarcinoma in a carcinoma is rare but has been described in various organs, including in the female genital tract. We report a cervical clear cell carcinoma admixed with a component of choriocarcinoma in a 52-year-old woman, only the second report of this combination in the literature. Immunohistochemically, the tumor exhibited isolated loss of staining with the mismatch repair protein MSH6. We review the literature on trophoblastic differentiation in cervical carcinoma...
December 12, 2016: International Journal of Gynecological Pathology
https://www.readbyqxmd.com/read/28114191/frequent-mismatch-repair-protein-deficiency-in-mixed-endometrioid-and-clear-cell-carcinoma-of-the-endometrium
#14
Martin Köbel, Basile Tessier-Cloutier, Joyce Leo, Lien N Hoang, C Blake Gilks, Robert A Soslow, Deborah Delair, Colin J R Stewart, Cheng-Han Lee
Mixed endometrioid and clear cell carcinoma of the endometrium refers to a scenario in which the tumor exhibits histologic features of both endometrioid and clear cell carcinoma. We observed a tendency for these tumors to occur in a mismatch repair (MMR) protein-deficient molecular background in a prior study that examined a small cohort of mixed-type endometrial carcinomas. The aim of this study was to determine the rate of MMR protein deficiency in a larger series of endometrial mixed endometrioid and clear cell carcinomas, through a retrospective survey of MLH1, PMS2, MSH2, and MSH6 expression in such tumors at 5 tertiary centers...
January 20, 2017: International Journal of Gynecological Pathology
https://www.readbyqxmd.com/read/28103454/phenotypic-heterogeneity-by-germline-mismatch-repair-gene-defect-in-lynch-syndrome-patients
#15
Jorge Hernâni-Eusébio, Elisabete Barbosa
INTRODUCTION: Lynch syndrome is the most common form of hereditary colorectal cancer, being also responsible for endometrial and other types of cancers. It is associated with germline mutations in DNA mismatch repair genes and microsatellite instability. MLH1 and MSH2 mutations have a "classical" Lynch syndrome phenotype, with MSH2 having a higher association with extracolonic cancer. MSH6 and PMS2 mutations have an atypical phenotype. Clinical expression is heterogeneous, with correlation between mismatch repair mutated gene and phenotypic patterns...
October 2016: Acta Médica Portuguesa
https://www.readbyqxmd.com/read/28063788/response-to-chemotherapy-and-prognosis-in-metastatic-colorectal-cancer-with-dna-deficient-mismatch-repair
#16
Alexandra Khichfy Alex, Sheila Siqueira, Renata Coudry, Juliana Santos, Michel Alves, Paulo M Hoff, Rachel P Riechelmann
BACKGROUND: DNA deficient mismatch repair (dMMR) genes are associated with microsatellite instability and good prognosis in early-stage colorectal cancer (CRC). However dMMR is rare in metastatic CRC (mCRC) and little is known about its influence on treatment response rate (RR). The primary objective of this study was to compare the RR of patients with mCRC according to dMMR status. METHODS: This was a retrospective study that compared the RR by Response Evaluation Criteria In Solid Tumors 1...
November 26, 2016: Clinical Colorectal Cancer
https://www.readbyqxmd.com/read/28050010/benchmarking-of-whole-exome-sequencing-and-ad-hoc-designed-panels-for-genetic-testing-of-hereditary-cancer
#17
Lídia Feliubadaló, Raúl Tonda, Mireia Gausachs, Jean-Rémi Trotta, Elisabeth Castellanos, Adriana López-Doriga, Àlex Teulé, Eva Tornero, Jesús Del Valle, Bernat Gel, Marta Gut, Marta Pineda, Sara González, Mireia Menéndez, Matilde Navarro, Gabriel Capellá, Ivo Gut, Eduard Serra, Joan Brunet, Sergi Beltran, Conxi Lázaro
Next generation sequencing panels have been developed for hereditary cancer, although there is some debate about their cost-effectiveness compared to exome sequencing. The performance of two panels is compared to exome sequencing. Twenty-four patients were selected: ten with identified mutations (control set) and fourteen suspicious of hereditary cancer but with no mutation (discovery set). TruSight Cancer (94 genes) and a custom panel (122 genes) were assessed alongside exome sequencing. Eighty-three genes were targeted by the two panels and exome sequencing...
January 4, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28038733/genetic-mutation-risk-calculation-in-lynch-syndrome-inheritance-evaluating-the-utility-of-the-premm1-2-6-model-in-lyon-the-first-french-study
#18
REVIEW
Souria Aissaoui, Charline Cartellier, Thomas Seytier, Sophie Giraud, Alain Calender
Lynch syndrome is due to germline mutations in mismatch repair genes: MLH1, MSH2, MSH6 and PMS2. It is characterized by an increased risk of various cancers including colorectal and endometrial cancers. Early diagnosis of these patients allows for appropriate surveillance and improves survival rates. Differentiating between patients who should undergo genetic testing and those for whom it is not necessary is difficult despite various established criteria (Amsterdam and Bethesda). Often, health professionals meet in multidisciplinary committees (MDC) to discuss patient cases regarding Lynch syndrome...
December 27, 2016: Bulletin du Cancer
https://www.readbyqxmd.com/read/28004223/identification-of-msh2-inversion-of-exons-1-7-in-clinical-evaluation-of-families-with-suspected-lynch-syndrome
#19
Maureen E Mork, Andrea Rodriguez, Melissa W Taggart, Miguel A Rodriguez-Bigas, Patrick M Lynch, Sarah A Bannon, Y Nancy You, Eduardo Vilar
Traditional germline sequencing and deletion/duplication analysis does not detect Lynch syndrome-causing mutations in all individuals whose colorectal or endometrial tumors demonstrate mismatch repair (MMR) deficiency. Unique inversions and other rearrangements of the MMR genes have been reported in families with Lynch syndrome. In 2014, a recurrent inversion of MSH2 exons 1-7 was identified in five families suspected to have Lynch syndrome. We aimed to describe our clinical experience in identifying families with this specific inversion...
December 21, 2016: Familial Cancer
https://www.readbyqxmd.com/read/28002797/targeted-exome-sequencing-reveals-distinct-pathogenic-variants-in-iranians-with-colorectal-cancer
#20
Hassan Ashktorab, Pooneh Mokarram, Hamed Azimi, Hasti Olumi, Sudhir Varma, Michael L Nickerson, Hassan Brim
PURPOSE: Next Generation Sequencing (NGS) is currently used to establish mutational profiles in many multigene diseases such as colorectal cancer (CRC), which is on the rise in many parts of the developing World including, Iran. Little is known about its genetic hallmarks in these populations. AIM: To identify variants in 15 CRC-associated genes in patients of Iranian descent. RESULTS: There were 51 validated variants distributed on 12 genes: 22% MSH3 (n = 11/51), 10% MSH6 (n = 5/51), 8% AMER1 (n = 4/51), 20% APC (n = 10/51), 2% BRAF (n = 1/51), 2% KRAS (n = 1/51), 12% PIK3CA (n = 6/51), 8% TGFβR2A (n = 4/51), 2% SMAD4 (n = 1/51), 4% SOX9 (n = 2/51), 6% TCF7L2 (n = 3/51), and 6% TP53 (n = 3/51)...
January 31, 2017: Oncotarget
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