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https://www.readbyqxmd.com/read/27900998/novel-mutations-in-psenen-gene-in-two-chinese-acne-inversa-families-manifested-as-familial-multiple-comedones-and-dowling-degos-disease
#1
Cheng Zhou, Guang-Dong Wen, Lwin Myint Soe, Hong-Jun Xu, Juan Du, Jian-Zhong Zhang
BACKGROUND: Acne inversa (AI), also called hidradenitis suppurativa, is a chronic, inflammatory, recurrent skin disease of the hair follicle. Familial AI shows autosomal-dominant inheritance caused by mutations in the γ-secretase genes. This study was aimed to identify the specific mutations in the γ-secretase genes in two Chinese families with AI. METHODS: In this study, two Chinese families with AI were investigated. All the affected individuals in the two families mainly manifested with multiple comedones, pitted scars, and a few inflammatory nodules on their face, neck, trunk, axilla, buttocks, upper arms, and thighs...
2016: Chinese Medical Journal
https://www.readbyqxmd.com/read/27889038/treatment-of-the-primary-tumor-in-anal-canal-cancers
#2
REVIEW
Rob Glynne-Jones, Sheela Rao
Radical concurrent chemoradiotherapy with 5-fluorouracil and mitomycin C (MMC) remains the standard of care for squamous cell carcinoma of the anus. Phase III trials over 2 decades have used combined radiation doses of 50 to 60 Gy with concurrent fluoropyrimidines, MMC, or cisplatin in various doses and schedules. Modern radiotherapy techniques allow the production of highly conformal plans, decreasing radiation doses to the organs at risk and ensuring a shorter overall treatment time without the need for treatment breaks...
January 2017: Surgical Oncology Clinics of North America
https://www.readbyqxmd.com/read/27889037/pathology-of-anal-cancer
#3
REVIEW
Paulo M Hoff, Renata Coudry, Camila Motta Venchiarutti Moniz
Anal canal cancer is rather an uncommon disease but its incidence is increasing. Squamous cell carcinoma (SCC) is the most frequent primary anal neoplasm and can encompass a variety of morphologies. HPV infection has a key role in precancerous lesions and cancer development by the production of E6 and E7 oncoproteins. Anal squamous precancerous lesions are now classified according to the same criteria and terminology as their cervical counterparts. The p16 expression by immunohistochemistry is a surrogate marker for human papilloma virus (HPV)...
January 2017: Surgical Oncology Clinics of North America
https://www.readbyqxmd.com/read/27889032/metastatic-anal-cancer-and-novel-agents
#4
REVIEW
Van Morris, Cathy Eng
Squamous cell carcinoma of the anal canal (SCCA) represents an orphan disease. Although prior infection with human papilloma virus is associated with the development of SCCA, knowledge of this relationship has proven ineffective in identifying therapeutic agents that have activity in the management of metastatic SCCA. Combination chemotherapy with traditional cytotoxic agents has demonstrated efficacy in multiple small series. However, immune checkpoint blockade agents have demonstrated efficacy for patients with refractory metastatic SCCA; these agents hold promise in the horizon for patients with metastatic SCCA...
January 2017: Surgical Oncology Clinics of North America
https://www.readbyqxmd.com/read/27886225/no-evidence-of-nras-mutation-in-squamous-cell-anal-carcinoma-scac
#5
Laura Capelli, Andrea Casadei Gardini, Emanuela Scarpi, Giovanni Luca Frassineti, Luca Saragoni, Maurizio Puccetti, Mario Scartozzi, Massimo Giannini, Stefano Tamberi, Jody Corbelli, Paola Ulivi
Epidermal growth factor receptor (EGFR) is usually expressed in squamous cell anal carcinoma (SCAC) and anti-EGFR agents could represent a valid treatment strategy, also considering that KRAS and BRAF mutations are rare events in this type of cancer. However, no data are available on NRAS status in SCAC. In this study we analyzed NRAS status (exons 2-4) by Pyrosequencing in a case series of 50 SCAC patients previously characterized in our laboratory for KRAS, BRAF, PIK3CA mutations and HPV and HIV infections...
November 25, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27885870/transanal-total-mesorectal-excision-for-restorative-coloproctectomy-in-an-obese-high-risk-patient-with-colitis-associated-carcinoma
#6
Laura Isabel Hanke, Fabian Bartsch, Sebastian Försch, Florian Heid, Hauke Lang, Werner Kneist
Transanal total mesorectal excision (TaTME) offers great potential for the treatment of malign and benign diseases. However, laparoscopic-assisted TaTME in ulcerative colitis has not been described in more than a handful of patients. We present a 47-year-old highly comorbid female patient with an ulcerative colitis-associated carcinoma of the ascending colon and steroid-refractory pancolitis. A two-stage restorative coloproctectomy including right-sided complete mesocolic excision was conducted. The second step consisted of a successful nerve-sparing TaTME and a handsewn ileal pouch-anal anastomosis...
November 25, 2016: Minimally Invasive Therapy & Allied Technologies: MITAT
https://www.readbyqxmd.com/read/27872539/adenosquamous-carcinoma-of-the-duodenum-a-rare-entity
#7
Garima Daga, Prashant Kerkar
Adenosquamous carcinomas (ASC) of the duodenum are extremely rare neoplasms. They have been reported throughout gastrointestinal tract, including the gastroesophageal junction and the anal canal. Only a few cases of ASC of the small bowel and duodenum have been reported in the literature. Here in we report a case ASC of the second part of the duodenum in a 78-year-old man.
December 2016: Indian Journal of Surgical Oncology
https://www.readbyqxmd.com/read/27852700/genomic-evolution-after-chemoradiotherapy-in-anal-squamous-cell-carcinoma
#8
Kent W Mouw, James M Cleary, Brendan Reardon, Jonathan Pike, Lior Z Braunstein, Jaegil Kim, Ali Amin-Mansour, Diana Miao, Alexis Damish, Joanna Chin, Patrick A Ott, Charles S Fuchs, Neil E Martin, Gad Getz, Scott Carter, Harvey Mamon, Jason L Hornick, Eliezer Van Allen, Alan D D'Andrea
PURPOSE: Squamous cell carcinoma of the anal canal (ASCC) accounts for 2-4% of gastrointestinal (GI) malignancies in the US and is increasing in incidence; however, genomic features of ASCC are incompletely characterized. Primary treatment of ASCC involves concurrent chemotherapy and radiation (CRT), but the mutational landscape of resistance to CRT is unknown. Here, we aim to compare mutational features of ASCC in the pre- and post-CRT setting. EXPERIMENTAL DESIGN: We perform whole exome sequencing of primary (n=31) and recurrent (n=31) ASCCs and correlate findings with clinical data...
November 16, 2016: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/27849650/programmed-cell-death-ligand-1-pd-l1-expression-in-anal-cancer
#9
Rangaswamy Govindarajan, Swetha Gujja, Eric R Siegel, Anu Batra, Anwaar Saeed, Keith Lai, Jennifer D James, Bradley J Fogel, Stephen Williamson
OBJECTIVE: To evaluate the expression of programmed cell death-ligand 1 (PD-L1) in anal cancer. PATIENTS AND METHODS: In a retrospective cohort analysis, subjects with squamous cell carcinoma of the anal canal were tested for PD-L1 expression, then followed for recurrence and survival. Crude recurrence rates (CRRs), crude mortality rates (CMRs), and crude event rates (CERs) were assessed for PD-L1-dependent differences using Poisson regression. All 3 types of crude rate were expressed as the number that occurred per hundred person-years (hPY) of follow-up...
November 15, 2016: American Journal of Clinical Oncology
https://www.readbyqxmd.com/read/27830391/robotically-assisted-laparoscopic-ovarian-transposition-in-women-with-lower-gastrointestinal-cancer-undergoing-pelvic-radiotherapy
#10
Vasileios D Sioulas, Soledad Jorge, Jing-Yi Chern, Maria B Schiavone, Martin R Weiser, Joanne F Kelvin, Ginger J Gardner, Yukio Sonoda, Nadeem R Abu-Rustum, Karyn A Goodman, Mario M Leitao
BACKGROUND: Pelvic radiotherapy (RT) is a standard component of the management for patients with locally advanced rectal cancer or squamous cell carcinoma of the anus. Pelvic RT leads to permanent and irreversible ovarian failure in young women. This study aimed to determine the effectiveness of robotically assisted laparoscopic ovarian transposition (OT) before RT in women with rectal or anal cancer who wanted to preserve normal ovarian function. METHODS: The study reviewed the medical records of all patients treated at our institution from August 2009 to October 2014 who received robotically assisted laparoscopic OT for rectal or anal cancer before RT...
November 9, 2016: Annals of Surgical Oncology
https://www.readbyqxmd.com/read/27830320/pilot-study-of-fmc-5-fluorouracil-mitomycin-c-and-cisplatin-with-radiotherapy-for-patients-with-anal-cancer
#11
In Hee Lee, Soo Jung Lee, Byung Woog Kang, Yee Soo Chae, Dongwon Baek, Soyoon Hwang, Hye Jin Kim, Su Yeon Park, Jun Seok Park, Gyu Seog Choi, Jae Chul Kim, Jong Gwang Kim
OBJECTIVES: Concurrent chemoradiotherapy (CRT) is the current standard of treatment for anal squamous carcinoma. However, local or metastatic recurrences remain significant after CRT with 5-fluorouracil (5-FU) and mitomycin C (MMC). Therefore, the present study evaluated the feasibility and efficacy of adding cisplatin to the classic CRT (5-FU, MMC, and radiotherapy). METHODS: Twenty patients with histologically confirmed squamous cell carcinoma of the anus without metastatic disease were enrolled at Kyungpook National University Medical Center (Daegu, Korea) between January 2005 and December 2014...
November 9, 2016: Cancer Chemotherapy and Pharmacology
https://www.readbyqxmd.com/read/27822951/rectal-neuroendocrine-neoplasia-a-rare-tumour
#12
Marina de Benito Sanz, Javier Santos Fernández, Mª Henar Núñez Rodríguez
Colorectal neuroendocrine tumours are rare A 78 year old man with a history of hypertension, heart disease, pacemakers, prostate adenocarcinoma.On examination for rectal bleeding, a colonoscopy was performed and at 5 cm of the anal margin a 28 mm ulcerated neoformation was found.An echo-endoscopy revealed infiltration of the muscular layer with an area of loss in the cleavage plane loss and fraying of the perirectal fat infiltration suggestive of infiltration (T3). They no lymph nodes or metastasis were identified by CAT...
November 8, 2016: Revista Española de Enfermedades Digestivas
https://www.readbyqxmd.com/read/27806411/anal-chromoendoscopy-using-gastroenterological-video-endoscopes-a-new-method-to-perform-high-resolution-anoscopy-for-diagnosing-intraepithelial-neoplasia-and-anal-carcinoma-in-hiv-infected-patients
#13
M Oette, U Wieland, M Schünemann, J Haes, S Reuter, B Jensen, A Sagir, H Pfister, D Häussinger
Introduction: Anal carcinoma represents an increasing problem in HIV-infected patients. Anal intraepithelial neoplasia (AIN), the precursor lesion, is currently diagnosed by high-resolution anoscopy (HRA) using optical magnification derived from gynecological colposcopy. This prospective study evaluates anal chromoendoscopy (ACE) using standard gastroenterological video-endoscopes in diagnosing AIN. Methods: After clinical examination, proctoscopy and surface staining with acetic acid followed by Lugol's solution, ACE was performed with a mucosectomy cap on the tip of the endoscope...
November 2, 2016: Zeitschrift Für Gastroenterologie
https://www.readbyqxmd.com/read/27790516/small-cell-carcinoma-of-anal-canal-a-rare-case-report
#14
Surag, Chandrashekar Neeralagi, Arun Prasath, Puneeth Kumar, Bharath Reddy
Anal canal malignancy is one of the dreadful conditions. Most of the anal canal malignancies are squamous cell carcinomas for which the treatment is well established and the prognosis is usually favourable. Small cell carcinoma of anal canal is a very rare condition and poorly understood, which can present as haemorrhoids in its early stages and has an aggressive course. We present a case of small cell carcinoma of anal canal who underwent Abdomino Perineal Resection (APR) and chemotherapy. He developed liver metastasis during the course of chemotherapy and succumbed to the condition 4 months later...
September 2016: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/27789668/international-trends-in-anal-cancer-incidence-rates
#15
Farhad Islami, Jacques Ferlay, Joannie Lortet-Tieulent, Freddie Bray, Ahmedin Jemal
BACKGROUND: Previous studies have reported rapid increases in anal cancer incidence rates in seven high-income countries in North America, Europe and Oceania. There is very limited information on whether this pattern is replicated in other parts of the world. In this study, we examine recent trends in anal cancer incidence in 18 countries worldwide. METHODS: We calculated age-standardized incidence rates for anal squamous cell carcinoma (ASCC) and anal adenocarcinoma (AAC) for a minimum of 13 years through to 2007, using data from the International Agency for Research on Cancer's Cancer Incidence in Five Continents series, and applied joinpoint regression models to assess changes in incidence rates...
October 27, 2016: International Journal of Epidemiology
https://www.readbyqxmd.com/read/27789176/-rectal-squamous-cell-carcinoma-treatment-retrospective-experience-in-two-french-university-hospitals-review-and-proposals
#16
A Schernberg, S Servagi-Vernat, G Loganadane, E Touboul, J-F Bosset, F Huguet
After publishing a retrospective series of 23 patients treated for a rectal squamous cell carcinoma with exclusive curative and conservative intent chemoradiation, we aim to propose a review of the literature about this rare tumour. We identified 11 retrospective studies, on 106 patients, treated between 2007 and 2016. Treatment of rectal squamous cell carcinoma should be similar to anal carcinoma, based on exclusive chemoradiation, displaying a 5-year overall survival rate over 80%, while it was 32% in surgical series...
December 2016: Cancer Radiothérapie: Journal de la Société Française de Radiothérapie Oncologique
https://www.readbyqxmd.com/read/27773118/anal-squamous-cell-carcinoma-in-crohn-s-disease
#17
Vivienne Lea, Jing Jing Li
No abstract text is available yet for this article.
February 2016: Pathology
https://www.readbyqxmd.com/read/27768599/a-role-for-the-vitamin-d-pathway-in-non-intestinal-lesions-in-genetic-and-carcinogen-models-of-colorectal-cancer-and-in-familial-adenomatous-polyposis
#18
Yong-Sik Bong, Shahin Assefnia, Therese Tuohy, Deborah W Neklason, Randall W Burt, Jaeil Ahn, Hao-Wen J Jiang, Stephen W Byers
Vitamin D is implicated in the etiology of cancers of the gastrointestinal tract, usually characterized by alteration in the APC/β-catenin/TCF tumor suppressor pathway. The vitamin D receptor (VDR) is also implicated in cardiovascular and skin diseases as well as in immunity. Activated VDR can indirectly alter β-catenin nuclear localization and directly suppress β-catenin/TCF mediated transcriptional activity. We treated VDR null mice with the carcinogen azoxymethane (AOM) and generated mice bearing a mutated APC (hypomorph) on a VDR null background (Apc1638N/+Vdr-/-)...
October 19, 2016: Oncotarget
https://www.readbyqxmd.com/read/27755060/hyperfractionated-accelerated-reirradiation-for-patients-with-recurrent-anal-cancer-previously-treated-with-definitive-chemoradiation
#19
Eleanor M Osborne, Cathy Eng, John M Skibber, Miguel A Rodriguez-Bigas, George J Chang, Yi-Qian Nancy You, Brian K Bednarski, Bruce D Minsky, Marc E Delclos, Eugene Koay, Sunil Krishnan, Christopher H Crane, Prajnan Das
OBJECTIVES: Although chemoradiation is the standard of care for anal cancer, limited data exist regarding pelvic reirradiation (re-RT) for recurrent disease. We investigated toxicity and outcomes in patients who received prior pelvic radiation therapy (RT), and subsequently underwent hyperfractionated accelerated re-RT to the pelvis for recurrent anal cancer. MATERIALS AND METHODS: We reviewed records of 10 patients with recurrent anal squamous cell carcinoma who previously received pelvic RT to at least 30 Gy as a component of their chemoradiation and underwent re-RT in 1...
October 17, 2016: American Journal of Clinical Oncology
https://www.readbyqxmd.com/read/27752279/radiological-assessment-of-anal-cancer-an-overview-and-update
#20
Vincenza Granata, Roberta Fusco, Alfonso Reginelli, Luca Roberto, Francesco Granata, Daniela Rega, Antonio Rotondo, Roberto Grassi, Francesco Izzo, Antonella Petrillo
Anal cancer is uncommon neoplasm with an incidence of 2 new cases per 100,000 per year in the USA, accounting approximately 0.4 % of all tumors and 2.5 % of gastrointestinal malignancies. An early detection of the anal cancer is crucial for the patient management, whereas the diagnosis at an early stage allows conservative management with sphincter sparing, on the contrary a delays in diagnosis might lead to an advance cancer stage at presentation with worst survival. According to National Comprehensive Cancer Network (NCCN) Anal Carcinoma guidelines the patients should be subjected to a careful clinical examination, including a digital rectal examination (DRE), an anoscopic examination, and palpation of inguinal nodes...
2016: Infectious Agents and Cancer
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