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https://www.readbyqxmd.com/read/28918392/cnvs-affecting-cancer-predisposing-genes-cpgs-detected-as-incidental-findings-in-routine-germline-diagnostic-chromosomal-microarray-cma-testing
#1
Josie Innes, Lisa Reali, Jill Clayton-Smith, Georgina Hall, Derek Hk Lim, George J Burghel, Kim French, Unzela Khan, Daniel Walker, Fiona Lalloo, D Gareth R Evans, Dominic McMullan, Eamonn R Maher, Emma R Woodward
BACKGROUND: Identification of CNVs through chromosomal microarray (CMA) testing is the first-line investigation in individuals with learning difficulties/congenital abnormalities. Although recognised that CMA testing may identify CNVs encompassing a cancer predisposition gene (CPG), limited information is available on the frequency and nature of such results. METHODS: We investigated CNV gains and losses affecting 39 CPGs in 3366 pilot index case individuals undergoing CMA testing, and then studied an extended cohort (n=10 454) for CNV losses at 105 CPGs and CNV gains at 9 proto-oncogenes implicated in inherited cancer susceptibility...
September 16, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28918056/the-therapeutic-potential-of-crispr-cas9-systems-in-oncogene-addicted-cancer-types-virally-driven-cancers-as-a-model-system
#2
REVIEW
Luqman Jubair, Nigel A J McMillan
The field of gene editing is undergoing unprecedented growth. The first ex vivo human clinical trial in China started in 2016, more than 1000 US patents have been filed, and there is exponential growth in publications. The ability to edit genes with high fidelity is promising for the development of new treatments for a range of diseases, particularly inherited conditions, infectious diseases, and cancers. For cancer, a major issue is the identification of driver mutations and oncogenes to target for therapeutic effect, and this requires the development of robust models with which to prove their efficacy...
September 15, 2017: Molecular Therapy. Nucleic Acids
https://www.readbyqxmd.com/read/28917574/-apparent-worsening-of-psoriasis-lesions-revealing-methotrexate-overdosage
#3
R Haber, B Baroudjian, M Battistella, M Bagot, A Petit
BACKGROUND: Methotrexate (MTX) is an antimetabolite drug used in the treatment of cancers and autoimmune diseases and frequently in dermatology for cutaneous and/or arthritic psoriasis. Toxicities due to MTX overdosage are mainly cutaneous, hepatic and hematologic. Herein, we report a case of MTX overdosage presenting as an erosive and an inflammatory flare of preexisting psoriatic plaques and with new palmar lesions. PATIENTS AND METHODS: A 51-year-old male with a 6-year history of plaque psoriasis resistant to topical corticosteroids was started for the first time on MTX 20mg weekly...
September 13, 2017: Annales de Dermatologie et de Vénéréologie
https://www.readbyqxmd.com/read/28916903/merkel-cell-carcinoma-epidemiology-pathogenesis-diagnosis-and-therapy
#4
REVIEW
Teresa Amaral, Ulrike Leiter, Claus Garbe
Merkel cell carcinoma (MCC) is a rare and aggressive skin cancer with a neuroendocrine phenotype. Incidence varies according to the geographic regions but is overall increasing. Different risk factors have been identified namely advanced age, immunosuppression, and ultraviolet light exposure. An association between MCC and polyomavirus infection is known. However, the exact mechanism that leads to carcinogenesis is yet to be fully understood. Surgery when feasible is the recommended treatment for localized disease, followed by adjuvant radiation or chemoradiation...
September 16, 2017: Reviews in Endocrine & Metabolic Disorders
https://www.readbyqxmd.com/read/28916457/in-vitro-activity-of-1h-phenalen-1-one-derivatives-against-acanthamoeba-castellanii-neff-and-their-mechanisms-of-cell-death
#5
Atteneri López-Arencibia, María Reyes-Batlle, Mónica Blanco Freijo, Grant McNaughton-Smith, Patricia Martín-Rodríguez, Leandro Fernández-Pérez, Ines Sifaoui, Carolina Wagner, Ana B García-Méndez, Aitor Rizo Liendo, Carlos J Bethencourt-Estrella, Teresa Abad-Grillo, José E Piñero, Jacob Lorenzo-Morales
Acanthamoeba is an opportunistic pathogen which is the causal agent of a sight-threatening ulceration of the cornea known as Acanthamoeba keratitis (AK) and, more rarely, an infection of the central nervous system called "granulomatous amoebic encephalitis" (GAE). The symptoms of AK are non-specific, and so it can be misdiagnosed as a viral, bacterial, or fungal keratitis. Furthermore, current therapeutic measures against AK are arduous, and show limited efficacy against the cyst stage of Acanthamoeba. 1H-Phenalen-1-one (PH) containing compounds have been isolated from plants and fungi, where they play a crucial role in the defense mechanism of plants...
September 12, 2017: Experimental Parasitology
https://www.readbyqxmd.com/read/28915833/deltopectoral-flap-revisited-for-reconstruction-surgery-in-patients-with-advanced-thyroid-cancer-a-case-report
#6
Taro Mikami, Shintaro Kagimoto, Yuichiro Yabuki, Kazunori Yasumura, Toshinori Iwai, Jiro Maegawa, Nobuyasu Suganuma, Shohei Hirakawa, Katsuhiko Masudo
BACKGROUND: We present the cases of 2 patients with invasive thyroid cancer, who underwent reconstructive surgery using a deltopectoral flap. Although the overall rate of extrathyroidal extension in patients with thyroid cancer is quite low, skin invasion is the most common pattern observed. Reconstructive surgery, involving local skin flaps, is required in these patients. The deltopectoral flap relies on the blood supply from intercostal perforators of the internal thoracic artery and usually requires skin grafting to the donor site...
September 15, 2017: BMC Surgery
https://www.readbyqxmd.com/read/28915128/polyphenols-dietary-assessment-and-role-in-the-prevention-of-cancers
#7
Joseph A Rothwell, Viktoria Knaze, Raul Zamora-Ros
PURPOSE OF REVIEW: Polyphenols are a large and diverse family of phytochemicals widely consumed by humans. Here we summarize the latest epidemiological evidence for associations between cancer risk and polyphenol intake, taking into account difficulties in the accurate estimation of exposure. RECENT FINDINGS: Flavonoids are the most studied subgroup of polyphenols with regard to cancer risk. In recent epidemiological studies, total flavonoid intake has rarely been associated with a reduction in cancer risk...
September 14, 2017: Current Opinion in Clinical Nutrition and Metabolic Care
https://www.readbyqxmd.com/read/28914981/fna-cytology-of-solitary-fibrous-tumors-and-the-diagnostic-value-of-stat6-immunocytochemistry
#8
Edneia Tani, Johan Wejde, Kristina Åström, Inga-Lill Wingmo, Olle Larsson, Felix Haglund
BACKGROUND: Solitary fibrous tumors (SFTs) are rare mesenchymal tumors commonly located in the pleura, soft tissues, or meninges and are characterized by the NGFI-A-binding protein 2 (NAB2)-signal transducer and activator of transcription 6 (STAT6) fusion gene. Recent studies have indicated that nuclear STAT6 immunohistochemistry is a specific marker for SFTs. METHODS: The authors reviewed fine-needle aspiration (FNA) specimens from extracranial SFTs diagnosed at their institution between 1993 and 2017...
September 15, 2017: Cancer
https://www.readbyqxmd.com/read/28914263/coexistent-genetic-alterations-involving-alk-ret-ros1-or-met-in-15-cases-of-lung-adenocarcinoma
#9
Zhenya Tang, Jianjun Zhang, Xinyan Lu, Wei Wang, Hui Chen, Melissa K Robinson, Joanne Cheng, Guilin Tang, L Jeffrey Medeiros
In lung cancer, targetable activating alterations in cancer genes, such as EGFR, ALK, RET, ROS1 and MET, are usually mutually exclusive. Rare lung cancer cases with coexistent alterations of EGFR and ALK or EGFR mutations with RET or ROS1 rearrangements have been reported. In this study, we report 15 patients (3 men and 12 women; 14 Caucasians and 1 African American) with ages ranging from 43 to 81 years (median 60 years) with lung adenocarcinoma in which coexistent alterations of two cancer-associated genes, including ALK, ROS1, or RET rearrangement or MET amplification were present...
September 15, 2017: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/28913323/cutaneous-basal-cell-carcinoma-arising-in-odontogenic-cutaneous-fistula
#10
Nam Gyun Kim, Jun Oh Kim, Young Ji Park, Jun Sik Kim, Yoon Jung Lee, Kyung Suk Lee
An odontogenic cutaneous fistula is a pathological communication between the outer skin surface of the face and the oral cavity. Facial cutaneous fistula is a complication of odontogenic infection that is often misdiagnosed with skin infection. We report a rare case, which was diagnosed as basal cell carcinoma based on the biopsy of skin lesions in the patient who had been diagnosed with odontogenic cutaneous fistula. A 64-year-old male patient presented with a cutaneous odontogenic fistula. The patient had undergone surgical extraction of fistula tract and loose tooth before dermatology or plastic surgery consultation...
June 2017: Arch Craniofac Surg
https://www.readbyqxmd.com/read/28913304/trichilemmal-carcinoma-from-proliferating-trichilemmal-cyst-on-the-posterior-neck
#11
Ui Geon Kim, Dong Bee Kook, Tae Hun Kim, Chung Hun Kim
Trichilemmal cysts are common fluid-filled growths that arise from the isthmus of the hair follicle. They can form rapidly multiplying trichilemmal tumors-, also called proliferating trichilemmal cysts, which are typically benign. Rarely, proliferating trichilemmal cysts can become cancerous. Here we report the case of a patient who experienced this series of changes. The 27-year-old male patient had been observed to have a 1×1 cm cyst 7 years ago. Eight months prior to presentation at our institution, incision and drainage was performed at his local clinic...
March 2017: Arch Craniofac Surg
https://www.readbyqxmd.com/read/28913152/early-vulvar-and-umbilical-incisional-scar-recurrence-of-cervical-squamous-cell-carcinoma-earlier-than-usually-expected
#12
Hüseyin Çağlayan Özcan, Aynur Mustafa, Zehra Bozdağ, Seyhun Sucu, Mete Gürol Uğur, Özcan Balat
Cutaneous metastasis is considered as a hazardous condition depending on the mean survival around 9 months, which usually originates from cancers of the breast, lung, ovary, colon, and rarely from the cervix. The crucial prognostic factor of cutaneous metastasis depends on the period between the primary malignancy and cutaneous metastasis. We report two cases of the unusual presentation of squamous cell cancer of the cervix that developed vulvar and umbilical metastasis in the 5(th) month of primary treatment...
June 2017: Turk J Obstet Gynecol
https://www.readbyqxmd.com/read/28913125/bilateral-ovarian-metastasis-of-a-klatskin-tumor-a-rare-case
#13
Sefa Kurt, Çağnur Ulukuş, Seher Nazlı Kazaz, İbrahim Astarcıoğlu
Metastatic carcinomas of the ovary have an important place in all ovarian cancers and tumors. They can originate from many organs and systems and may metastasize to the ovary. The most common primary origin of metastasis is the gastrointestinal tract and then breast tissue. Cholangiocellular carcinomas involving the junction of the right and left bile ducts are called Klatskin tumors, and their metastases to the ovaries are very rare. A woman aged 54 years who had been treated previously for Klatskin tumor was admitted to our clinic due to bilateral ovarian masses and high serum calcium 19-9 levels...
December 2016: Turk J Obstet Gynecol
https://www.readbyqxmd.com/read/28912926/a-rare-case-of-atrial-metastasis-from-a-rectal-adenocarcinoma
#14
Srinivas S Ayyala, Dawnette M Urcuyo, Paul T Kannarkatt, James E Kovacs, Nicole J Terrigno
Colorectal cancers typically metastasize to the lymph nodes, liver or lungs. Metastasis to the heart is rare and although a few cases of cardiac metastases from colon cancer are described in the literature, cases of metastatic rectal cancer to the heart are far fewer. A 69-year-old woman with a history of rectal adenocarcinoma treated with neo-adjuvant chemotherapy and radiation, followed by resection and adjuvant chemotherapy, presented with increasing dyspnea on exertion and lower extremity edema 5 years after oncology follow-up...
October 2017: Journal of Clinical Medicine Research
https://www.readbyqxmd.com/read/28912913/paraneoplastic-dermatomyositis-syndrome-presenting-as-dysphagia
#15
Emmanuel Ofori, Daryl Ramai, Mel Ona, Madhavi Reddy
Dermatomyositis (DM) is a rare autoimmune condition which predominantly affects females in the fifth and sixth decades of life. DM presents acutely or progressively as painless proximal skeletal muscle weakness and can be associated with a heliotropic rash around the eyes, and Gottron's papules on extensor surfaces of the hands. While the pathophysiology of DM is still unclear, abnormal T- and B-cell immune activity has been reported. DM has been associated with malignancy and has been shown to appear before, concurrently with, or after diagnosis of cancer...
August 2017: Gastroenterology Research
https://www.readbyqxmd.com/read/28912912/splenic-abscess-an-unusual-complication-of-colon-cancer
#16
Rishitha Yelisetti, Madiha Khurshid, Areig Awad, Anand Kaji
Colon cancer is among the common malignancies. Common cancer-related complications are regional tumor extension, obstruction, and tumor perforation. Abscess formation is among the rare complications. We report a case of a 60-year-old female who presented with shortness of breath and left upper quadrant pain and was diagnosed with splenic abscess associated with colon cancer. This type of presentation necessitates an early surgical intervention.
August 2017: Gastroenterology Research
https://www.readbyqxmd.com/read/28912842/a-reliable-method-for-the-sorting-and-identification-of-aldh-high-cancer-stem-cells-by-flow-cytometry
#17
Zhengwei Leng, Zhao Yang, Lifa Li, Xiaorong Zhong, He Zhou, Yong Li, Gang Yang, Guangjun Zhang, Yongfu Xiong, Tong Zhou, Jianshui Li, Dongsheng Wang, Jingdong Li
Cancer stem cells (CSCs) are a rare tumorigenic population of cells found in multiple types of cancer. It has been suggested that CSCs are responsible for cancer drug resistance, metastasis and recurrence. Therefore, it is important to develop techniques to correctly sort and identify CSCs. In the current study, the sorting and identification of aldehyde dehydrogenase high (ALDH(high)) CSCs was performed using flow cytometry. Cells from three colon cancer cell lines were cultured in serum-free medium to obtain CSCs-enriched spheroid cells...
October 2017: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/28912139/a-combination-rnai-chemotherapy-layer-by-layer-nanoparticle-for-systemic-targeting-of-kras-p53-with-cisplatin-to-treat-non-small-cell-lung-cancer
#18
Li Gu, Jason Z Deng, Sweta Roy, Paula T Hammond
PURPOSE: Mutation of the Kirsten ras sarcoma viral oncogene homolog (KRAS) and loss of p53 function are commonly seen in non-small cell lung cancer (NSCLC). Combining therapeutics targeting these tumor defensive pathways with cisplatin in a single nanoparticle platform are rarely developed in clinic. EXPERIMENTAL DESIGN: Cisplatin was encapsulated in liposomes which multiple polyelectrolyte layers including siKRAS and miR-34a were built on to generate multifunctional layer-by-layer nanoparticle...
September 14, 2017: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/28912018/association-between-germline-mutations-in-brf1-a-subunit-of-the-rna-polymerase-iii-transcription-complex-and-hereditary-colorectal-cancer
#19
Fernando Bellido, Nadine Sowada, Pilar Mur, Conxi Lázaro, Tirso Pons, Rafael Valdés-Mas, Marta Pineda, Gemma Aiza, Silvia Iglesias, José Luís Soto, Miguel Urioste, Trinidad Caldés, Milagros Balbín, Pilar Blay, Daniel Rueda, Mercedes Durán, Alfonso Valencia, Victor Moreno, Joan Brunet, Ignacio Blanco, Matilde Navarro, George A Calin, Guntram Borck, Xose S Puente, Gabriel Capellá, Laura Valle
BACKGROUND & AIMS: Although there is a genetic predisposition to colorectal cancer (CRC), few of the genes that affect risk have been identified. We performed whole-exome sequence analysis of individuals in a high-risk family without mutations in genes previously associated with CRC risk to identify variants associated with inherited CRC. METHODS: We collected blood samples from 3 relatives with CRC in Spain (65, 62 and 40 years old at diagnosis) and perfomed whole-exome sequence analyses...
September 11, 2017: Gastroenterology
https://www.readbyqxmd.com/read/28911730/management-of-tyrosine-kinase-inhibitors-tki-side-effects-in-differentiated-and-medullary-thyroid-cancer-patients
#20
REVIEW
C Resteghini, S Cavalieri, D Galbiati, R Granata, S Alfieri, C Bergamini, P Bossi, L Licitra, L D Locati
Four tyrosine kinase inhibitors (TKIs) have been recently licensed in thyroid cancer (TC), sorafenib and lenvatinib for differentiated TC, vandetanib and cabozantinib for medullary TC. Others TKIs such as axitinib, pazopanib, sunitinib, have been tested within phase II trials. The toxicity burden associated to TKIs is not negligible. Drug reductions and interruptions are common, definitive drug withdrawals have also been reported as well as toxic deaths in more rare cases. In this context, the prevention of toxicities is mandatory to allow patients to stay on treatment as long as possible without dose and schedule modifications...
June 2017: Best Practice & Research. Clinical Endocrinology & Metabolism
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