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Rare cancer

Jonathan A Micieli, Edward A Margolin
Paraneoplastic optic neuropathy (PON) is a rare cause of vision loss usually associated with small cell lung cancer. Patients with this condition usually test positive for anti-collapsin response mediating protein-5 (CRMP-5). We describe a case of a 57-year-old woman with bilateral vision loss with the characteristic features of CRMP-5 PON including bilateral optic disc edema and vitreous cells. However, she was negative for anti-CRMP-5 including a negative Western blot on two occasions, but positive for Purkinje Cell Antibody (PCA)-2...
October 17, 2016: Journal of Neuro-ophthalmology: the Official Journal of the North American Neuro-Ophthalmology Society
Daniel Nava Rodrigues, Gunther Boysen, Semini Sumanasuriya, George Seed, Angelo M De Marzo, Johann de Bono
Prostate cancer (PCa) is a clinically heterogeneous disease and current treatment strategies are based largely on anatomical and pathological parameters. In the recent past, several DNA sequencing studies of primary and advanced PCa have revealed recurrent patterns of genomic aberrations that expose mechanisms of resistance to available therapies and potential new drug targets. Suppression of androgen receptor (AR) signalling is the cornerstone of advanced prostate cancer treatment. Genomic aberrations of the androgen receptor or alternative splicing of its mRNA are increasingly recognized as biomarkers of resistance to AR-targeted therapy such as abiraterone or enzalutamide...
October 18, 2016: Journal of Pathology
Shahida Moosa, Helena Böhrer-Rabel, Janine Altmüller, Filippo Beleggia, Peter Nürnberg, Yun Li, Gökhan Yigit, Bernd Wollnik
Heterozygous germline mutations in MTOR have been shown to underlie Smith-Kingsmore syndrome, a rare autosomal dominant syndrome characterized by macrocephaly, developmental delay, and dysmorphic facial features. Recently, two unrelated families with the MTOR mutation, c.5395G>A p.(Glu1799Lys), were reported. Here, we describe siblings from a non-consanguineous German family in whom we identified the same heterozygous missense mutation in MTOR. Remarkably, in all reported families with Smith-Kingsmore syndrome and the MTOR c...
October 18, 2016: American Journal of Medical Genetics. Part A
Jennifer M Taber, William M P Klein, Jerry M Suls, Rebecca A Ferrer
BACKGROUND: Cross-sectional studies suggest many people are unaware that cancer risk increases with age, but this misbelief has rarely been studied prospectively, nor are its moderators known. PURPOSE: To assess whether people recognize that cancer risk increases with age and whether beliefs differ according to gender, education, smoking status, and family history of cancer. METHODS: First, items from the cross-sectional Health Information National Trends Survey (n = 2069) were analyzed to examine the association of age and perceived cancer risk...
October 17, 2016: Annals of Behavioral Medicine: a Publication of the Society of Behavioral Medicine
Muhammad W Saif, Melissa Smith, Antonio Maloney
5-Fluorouracil (5-FU) is the backbone of the chemotherapy regimens approved for treatment of many malignancies, especially colorectal cancer (CRC). The incidence of cardiotoxicity associated with 5-FU ranges between 1.5% to 18% and is most commonly manifested as anginal symptoms. Cardiomyopathy is very rarely reported with 5-FU and capecitabine. A 35-year-old Caucasian male with T3, N1, M0 rectal cancer after the initial neoadjuvant chemoradiation with 5FU/LV followed by surgical abdominoperineal resection (APR), began mFOLFOX6 in the adjuvant setting...
September 14, 2016: Curēus
Kyung Hee Kim, Chan Gyoo Kim, Young-Woo Kim, Hae Moon, Jee Eun Choi, Soo-Jeong Cho, Jong Yeul Lee, Il Ju Choi
Phlegmonous gastritis is a rare and rapidly progressive bacterial infection of the stomach wall, with a high mortality rate. Antibiotics with or without surgical treatment are required for treatment. We present a case in which phlegmonous gastritis occurred during the diagnostic evaluation of early gastric cancer. The patient showed improvement after antibiotic treatment, but attempted endoscopic submucosal dissection failed because of submucosal pus. We immediately applied argon plasma coagulation since surgical resection was also considered a high-risk procedure because of the submucosal pus and multiple comorbidities...
September 2016: Journal of Gastric Cancer
Gianluca Bagnato, William Neal Roberts, Davide Sciortino, Donatella Sangari, Santa Cirmi, Roneka L Ravenell, Michele Navarra, Gianfilippo Bagnato, Sebastiano Gangemi
BACKGROUND: Systemic sclerosis (SSc) is a complex autoimmune disease characterized by vascular alterations and autoimmune activation leading to widespread organ fibrosis. At the early stage of disease when organ involvement and extent of disease are emerging, mast cells may have some role, as implied by both symptoms and histologic evidence. CASE PRESENTATION: A female patient diagnosed with cutaneous mastocytosis experienced the onset of systemic sclerosis after 15 years followed by the switch of mastocytosis to the systemic phenotype...
2016: Clinical and Molecular Allergy: CMA
Milan Kral, Jaroslav Michalek, Jozef Skarda, Tomas Tichy, Oldrich Smakal, Roman Kodet, Vladimir Student
BACKGROUND: Bladder cancer is relatively common in adults. In children, it is extremely rare and in the majority of cases, low grade, low stage urothelial cancers are found. CASE REPORT: We describe the diagnostic, therapeutic, and follow-up management of bladder cancer in a 3-year-old boy examined for painless hematuria. Transurethral resection of the tumor was performed and T1 high grade urothelial cancer with osseous metaplasia was found in definitive specimens...
October 3, 2016: Biomedical Papers of the Medical Faculty of the University Palacký, Olomouc, Czechoslovakia
Yoo-Sun Kim, Eunju Kim, Yoon Jung Park, Yuri Kim
Neuroblastoma (NB) is childhood malignancy that retains characteristics of cancer stem cells (CSCs). Targeting the CSCs is one of the therapeutic strategies proposed to achieve complete remission of NB. β-carotene (BC), an active precursor of retinoids, is a well-known antioxidant reported to possess anti-CSCs effects. Here, we investigated the involvement of retinoic acid receptors (RARs) in the anti-CSCs effects of BC. Treatment with BC or retinoic acid (RA) upregulated RARβ mRNA expression in two NB cell lines...
October 14, 2016: Biochemical and Biophysical Research Communications
Terence C Chua, Anubhav Mittal, Jenny Arena, Amy Sheen, Anthony J Gill, Jaswinder S Samra
INTRODUCTION: Distal cholangiocarcinoma remains a rare cancer associated with a dismal outcome. There is a lack of effective treatment options and where disease is amendable to resection, surgery affords the best potential for long-term survival. The aim of this study was to examine the survival outcomes and prognostic factors of patients undergoing pancreatoduodenectomy for distal cholangiocarcinoma. METHODS: Between January 2004 to May 2016, patients who had undergone pancreatoduodenectomy with histologically proven distal cholangiocarcinoma were identified...
October 8, 2016: American Journal of Surgery
A Spek, B Szabados, B Ziegelmüller, C Stief, M D'Anastasi, M Staehler
OBJECTIVES: To evaluate the usage of different guidelines and to estimate the impact of changed recommendation in routine management, therapy and follow-up of patients with renal cell cancer (RCC). METHODS: An anonymous questionnaire was sent to 600 urologists in Germany. Twenty-seven percent of them were included in the analysis. The questions were about the practice setting, surgical and medical treatment of RCC, follow-up modalities, knowledge and usage of RCC guidelines...
October 18, 2016: Urologia Internationalis
Javier López-Gómez, Ma Alejandra Salazar-Álvarez, Martin Granados-Garcia
INTRODUCTION: Thyroglosal duct cyst is a common anomaly with an incidence of 7% in adults, the rate of carcinoma in TGDC is 0.7-1.6%, and are extremely rare those originated in the hyoid bone. PRESENTATION OF CASE: A 60 years old male patient, had a hard mass in the anterior neck. CT revealed a hyoid tumor. Hyoid bone resection was performed, the pathological report show a conventional papillary carcinoma in bone tissue. We rule out primary tumor in thyroid gland...
September 29, 2016: International Journal of Surgery Case Reports
Raksha Rao, Renelle Pointdujour-Lim, Arupa Ganguly, Carol L Shields
PURPOSE: To report a case of unilateral multifocal melanoma in a patient with germ line BRCA-associated protein 1 mutation. METHODS: Case report. RESULTS: A 67-year-old white woman with a family history of lung and liver cancers developed blurred visual acuity of 20/30 in the left eye. She was discovered to have two independent pigmented choroidal melanomas in the macula and superotemporally, both demonstrating overlying subretinal fluid and orange pigment...
October 4, 2016: Retinal Cases & Brief Reports
Rahul Dwivedi, Sambath Tiroumal
PURPOSE: Paclitaxel (Taxol) is a microtubule-stabilizing agent and belongs to the taxane group of chemotherapeutic drugs. It is used to treat numerous malignancies, such as breast and lung cancers. A rare side effect of this drug includes cystoid macular edema (CME), which is presumed to resolve after cessation of Paclitaxel. We present a case of topical Dorzolamide 2% (Trusopt) having a possible successful effect in the treatment of Paclitaxel-related nonresolving CME. By highlighting this rare ocular side effect of a common chemotherapeutic agent, which fails to resolve upon cessation of the drug alone, we suggest a possible treatment that may help other ophthalmologists in their management of similar cases...
October 4, 2016: Retinal Cases & Brief Reports
Amit M Oza, Frédéric Selle, Irina Davidenko, Jacob Korach, Cesar Mendiola, Patricia Pautier, Ewa Chmielowska, Aristotelis Bamias, Andrea DeCensi, Zanete Zvirbule, Antonio González-Martín, Roberto Hegg, Florence Joly, Claudio Zamagni, Angiolo Gadducci, Nicolas Martin, Stephen Robb, Nicoletta Colombo
OBJECTIVE: The aim of this study was to assess the safety and efficacy of extending bevacizumab therapy beyond 15 months in nonprogressive ovarian cancer. PATIENTS AND METHODS: In this multinational prospective single-arm study ( NCT01239732), eligible patients had International Federation of Gynecology and Obstetrics stage IIB to IV or grade 3 stage I to IIA ovarian cancer without clinical signs or symptoms of gastrointestinal obstruction or history of abdominal fistula, gastrointestinal perforation, or intra-abdominal abscess within the preceding 6 months...
October 4, 2016: International Journal of Gynecological Cancer
Katarina Tomic, Marcus Westerberg, David Robinson, Hans Garmo, Pär Stattin
BACKGROUND: Knowledge on missing data in a clinical cancer register is important to assess the validity of research results. For analysis of prostate cancer (Pca), risk category, a composite variable based on serum levels of prostate specific antigen (PSA), stage, and Gleason score, is crucial for treatment decisions and a strong determinant of outcome. The aim of this study was to assess the proportion and characteristics of men in the National Prostate Cancer Register (NPCR) of Sweden with unknown risk category...
October 17, 2016: Acta Oncologica
Ziru Liu, Zhulin Yang, Song Jiang, Qiong Zou, Yuan Yuan, Jinghe Li, Daiqiang Li, Lufeng Liang, Meigui Chen, Senlin Chen
The clinicopathological and biological characteristics of squamous cell/adenosquamous carcinoma (SC/ASC) of the gallbladder remain to be fully elucidated, due to the fact that it is a rare gallbladder cancer subtype. In the current study, the expression of minichromosome maintenance complex component 2 (MCM2) and HIV‑1 tat interactive protein 2 (TIP30) was measured in 46 cases of SC/ASC and 80 adenocarcinomas (AC) using immunohistochemistry. Positive MCM2 and negative TIP30 expression were significantly associated with large tumor size, high TNM stage, invasion, lymph node metastasis and lack of surgical curability in SC/ASC and AC...
October 13, 2016: Molecular Medicine Reports
Kento Kurata, Naoyoshi Onoda, Satoru Noda, Shinichiro Kashiwagi, Yuka Asano, Kosei Hirakawa, Masaichi Ohira
Anaplastic thyroid cancer (ATC) is a rare malignancy that progresses extremely aggressively and often results in dismal prognosis. We investigated the efficacy of inhibiting the activated RAS/RAF/MEK pathway in ATC cells aiming to clarify the mechanism of effect and resistance. Four human ATC cell lines (ACT-1, OCUT-2, OCUT-4 and OCUT-6) were used. OCUT-4 had a BRAF mutation. OCUT-2 had both BRAF and PI3KCA mutations. ACT-1 and OCUT-6 had wild-type BRAF and NRAS mutations. The effects of dabrafenib, a selective inhibitor of the BRAFV600E kinase, and trametinib, a reversible inhibitor of MEK activity, were investigated...
October 7, 2016: International Journal of Oncology
Prosenjit Paul, Himangshu Deka, Arup K Malakar, Binata Halder, Supriyo Chakraborty
Among all cancers, the incidence of nasopharyngeal carcinoma (NPC) is quite high in the endemic regions. NPC is a head and neck cancer with poor survival rate, and is rare throughout most of the world but common in certain geographic areas, like southern Asia and some regions of North East India (Nagaland, Manipur, and Mizoram). A clear understanding of its etiology is still lacking, but NPC is widely suspected to be the result of both genetic susceptibility and exposure to environmental factors or Epstein-Barr virus infection...
September 29, 2016: European Journal of Cancer Prevention
Samara L Potter, Rajkumar Venkatramani, Scott Wenderfer, Brett H Graham, Sanjeev A Vasudevan, Andrew Sher, Hao Wu, David A Wheeler, Yaping Yang, Christine M Eng, Richard A Gibbs, Angshumoy Roy, Sharon E Plon, D Williams Parsons
Pediatric renal cell carcinoma (RCC) is a rare cancer that can be associated with inherited diseases including tuberous sclerosis complex (TSC) caused by germline mutations in TSC1 or TSC2. Somatic mutations in TSC1 and TSC2 have also been reported in adult RCC, which predict response to mTOR inhibitors. Here, we present the first case of RCC in a child with methylmalonic acidemia (MMA). Clinical whole exome sequencing of blood and tumor samples confirmed the diagnosis of MMA and revealed two somatic inactivating mutations in TSC2, suggesting the potential consideration of an mTOR inhibitor in the event of tumor recurrence...
October 17, 2016: Pediatric Blood & Cancer
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