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Rare cancers

Wenhui Zhou, Thomas K Ni, Ania Wronski, Benjamin Glass, Adam Skibinski, Andrew Beck, Charlotte Kuperwasser
Overabundance of Slug protein is common in human cancer and represents an important determinant underlying the aggressiveness of basal-like breast cancer (BLBC). Despite its importance, this transcription factor is rarely mutated in BLBC, and the mechanism of its deregulation in cancer remains unknown. Here, we report that Slug undergoes acetylation-dependent protein degradation and identify the deacetylase SIRT2 as a key mediator of this post-translational mechanism. SIRT2 inhibition rapidly destabilizes Slug, whereas SIRT2 overexpression extends Slug stability...
October 25, 2016: Cell Reports
Jing Chen, Craig A Mullen
BACKGROUND: Pediatric cancer is rare and its symptoms are often ambiguous. The aims of this study were to investigate the time needed to make a diagnosis, assess the frequency of misdiagnosis, and to determine whether these factors affected survival. METHODS: A review of records of 364 pediatric patients diagnosed with cancer at the University of Rochester Golisano Children's Hospital between 2004 and 2012 was conducted. Data were extracted on patient and health care system-related factors and clinical outcomes...
October 25, 2016: Journal of Pediatric Hematology/oncology
Kirsi Määttä, Tommi Rantapero, Anna Lindström, Matti Nykter, Minna Kankuri-Tammilehto, Satu-Leena Laasanen, Johanna Schleutker
A remarkable proportion of factors causing genetic predisposition to breast cancer (BC) are unknown in non-BRCA1/2 families. Exome sequencing was performed for 13 high-risk Finnish hereditary breast and/or ovarian cancer (HBOC) families to detect variants contributing to BC susceptibility. After filtering, 18 candidate variants in DNA damage response (DDR) pathway genes were screened in 129 female HBOC patients, up to 989 female controls, and 31 breast tumours by Sanger sequencing/TaqMan assays. In addition, two variants were further studied in 49 male BC patients and 909 male controls...
October 26, 2016: European Journal of Human Genetics: EJHG
Emily S Tonorezos, Dana Barnea, Ghassan K Abou-Alfa, Jacqueline Bromberg, Michael D'Angelica, Charles A Sklar, Jinru Shia, Kevin C Oeffinger
Hepatocellular adenoma (HCA) is a rare benign epithelial neoplasm with potential for hemorrhage, rupture, or malignant transformation. Reported annual incidence of HCA is approximately 1/1,000,000. We identified 12 cases of HCA among adults with a history of childhood or young adult cancer. The most common cancer diagnosis was leukemia (N = 4). Five had undergone allogeneic hematopoietic stem cell transplant with total body irradiation. All 11 females had prior estrogen therapy; the male case was hypogonadal...
October 26, 2016: Pediatric Blood & Cancer
Yan Shi, Yesenia Rojas, Wei Zhang, Elizabeth A Beierle, John J Doski, Melanie Goldfarb, Adam B Goldin, Kenneth W Gow, Monica Langer, Rebecka L Meyers, Jed G Nuchtern, Sanjeev A Vasudevan
OBJECTIVE: To examine patient characteristics and outcomes in children with undifferentiated embryonal sarcoma of the liver (UESL) using a multi-institutional database. SUMMARY BACKGROUND DATA: UESL is a rare disease (incidence is one per million). Therefore, the current literature is mostly limited to small case series. METHODS: The National Cancer Database was queried for primary UESL diagnosed between 1998 and 2012. RESULTS: A total of 103 patients (<18 years) were identified...
October 26, 2016: Pediatric Blood & Cancer
Cláudia Paiva, José Garcia, Cristina Silva, Alexandra Araújo, António Araújo, Marisa D Santos
Metastatic involvement of gastrointestinal tract from breast cancer is a rare event. We report the case of a 61-year-old woman presenting with bowel obstruction, related to metastasis of a primary breast cancer she had 12 years earlier (a triple-negative invasive ductal carcinoma treated with surgery and chemotherapy). Bowel obstruction was caused by a 20-centimeter tumor in the jejunum, involving also the transverse colon. The patient underwent en bloc resection of tumor with jejunum and transverse bowel segment and received adjuvant chemotherapy with carboplatin and paclitaxel...
2016: Case Reports in Oncological Medicine
Mark R Schleiss
Congenital cytomegalovirus (CMV) infection is the most common infectious cause of disability in newborn infants. CMV also causes serious disease in solid organ (SOT) and haematopoietic stem cell transplant (HSCT) recipients. In otherwise healthy children and adults, primary CMV infection rarely causes illness. However, even asymptomatic CMV infections may predispose an individual towards an increased risk of atherosclerosis, cancer and immune senescence over the life course, although such associations remain controversial...
October 5, 2016: Journal of Virus Eradication
Mehmet Rafet Yigitbasi, Gulcan Guntas, Tuba Atak, Cigdem Sonmez, Haydar Yalman, Hafize Uzun
INTRODUCTION: Idiopathic granulomatous mastitis (IGM) is a rare benign inflammatory breast disease that can clinically and radiographically mimic breast carcinoma and bacterial mastitis. The aim of this study is to investigate the importance of levels of the inflammation markers, interleukin-33 (IL-33), soluble ST2 receptor of IL-33 (sST2), procalcitonin (PCT), and CRP on differential diagnosis of IGM and breast cancer (BC). METHODS: 25 patients with IGM and 32 patients with primary BC who applied to General Surgery Clinic, and 30 healthy volunteer women with similar demographic condition were enrolled in the study...
October 26, 2016: Journal of Investigative Surgery: the Official Journal of the Academy of Surgical Research
David Santos, Yi-Ju Chiang, Brian Badgwell
Appendectomy is standard of care for uncomplicated appendicitis, but cancer patients may not be optimal surgical candidates. Interval appendectomy is controversial, and appendiceal malignancy is rare. Study objectives were to review the role of surgery, observation, and interventional radiology (IR)-guided drainage in patients with appendicitis and advanced malignancy. Retrospective review was performed on cancer patients presenting to a tertiary academic cancer center from January 1, 2001 to December 31, 2014...
October 2016: American Surgeon
Katharina Wimmer, Thorsten Rosenbaum, Ludwine Messiaen
Constitutional mismatch repair (MMR) deficiency (CMMRD) is a rare childhood cancer susceptibility syndrome resulting from biallelic germline loss-of-function mutations in one of the MMR genes. Individuals with CMMRD have a high risk to develop a broad spectrum of malignancies and frequently display features reminiscent of neurofibromatosis type 1 (NF1). Evaluation of the clinical findings of genetically proven CMMRD patients shows that not only multiple café-au-lait macules but any of the diagnostic features of NF1 may be present in a CMMRD patient...
October 25, 2016: Clinical Genetics
Liyan Wen, Sha Yang, Ping Zhu, Yingxin Yu, Xiaoyan Qiu, Ning Fu, Yanjun Liu
Cancer-associated antigen 215 (CA215) is an immunoglobulin molecule expressed by numerous tumor types. Membrane‑bound and soluble CA215 have been detected in the majority of cancer cells and rarely identified in normal tissues. In addition, CA215C is a carbohydrate‑associated epitope in the variable region of CA215, which is specifically recognized by the monoclonal antibody, RP215. However, CA215C is not a suitable vaccine candidate as it is a thymus‑independent antigen. In the present study, RP215 was used as a target to screen short peptide mimics of CA215C from a phage display peptide library...
October 19, 2016: Molecular Medicine Reports
Majed Saad Al Fayi, Xiaojun Gou, Shiva S Forootan, Waseem Al-Jameel, Zhengzheng Bao, Philip R Rudland, Philip A Cornford, Syed A Hussain, Youqiang Ke
In contrast to numerous studies conducted to investigate the crucial role of fatty acid binding protein 5 (FABP5) in prostate cancer, investigations on the possible involvement of other FABPs are rare. Here we first measured the mRNA levels of 10 FABPs in benign and malignant prostate cell lines and identified the differentially expressed FABP6 and FABP9 mRNAs whose levels in all malignant cell lines were higher than those in the benign cells. Thereafter we assessed the expression status of FABP6 and FABP9 in both prostate cell lines and in human tissues...
October 13, 2016: Oncotarget
Leila Rahbarnia, Safar Farajnia, Hossein Babaei, Jafar Majidi, Kamal Veisi, Shiva Ahdi Khosroshahi, Asghar Tanomand
Epidermal growth factor receptor (EGFR) as a transmembrane tyrosine kinase receptor is frequently overexpresses in tumors with epithelial origin. The L2 domain from extracellular part of EGFR is involved in ligand binding and the blockage of this domain prevents activation of related signaling pathways. This study was aimed to develop a novel human scFv against EGFR L2 domain as a promising target for cancer therapy. The L2 recombinant protein was purified and used for panning a human scFv phage library (Tomlinson I)...
September 28, 2016: Current Pharmaceutical Design
Sharon Grundfest-Broniatowski, JingLiang Yan, Matthew Kroh, Holly Kilim, Andrew Stephenson
Familial partial lipodystrophy type 2 (FPLD2) is a rare disorder associated with LMNA gene mutations. It is usually marked by loss of subcutaneous fat on the limbs and trunk and severe insulin resistance. Scattered reports have indicated that Roux-en-Y bypass helps to control the diabetes mellitus in these patients. We present here a very unusual patient with FPLD2 who had life-threatening retroperitoneal and renal fat accumulation accompanied by bilateral renal cancers. Following cryotherapy of one renal cancer and a contralateral nephrectomy with debulking of the retroperitoneal fat, Roux-en-Y gastric bypass (RYGB) has successfully controlled the disease for 3 years...
October 24, 2016: Journal of Gastrointestinal Surgery: Official Journal of the Society for Surgery of the Alimentary Tract
Hiroaki Nagata, Shuhei Komatsu, Wataru Takaki, Tokunari Okayama, Yasunori Sawabe, Michiaki Ishii, Mitsuo Kishimoto, Eigo Otsuji, Hiroshi Konosu
Granulocyte colony-stimulating factor (G-CSF)-producing tumor is one of the rare types of cancer clinically characterized by an elevated fever and white blood cell (WBC) increment. Although G-CSF producing tumors have been reported in several types of cancer including those of the lungs, cervix and bladder, G-CSF producing hepatocellular carcinoma is extremely rare. Here, we report the case of a rapidly growing and poorly differentiated hepatocellular carcinoma producing G-CSF. The patient showed symptoms of continuous high fever, stomach pain and cough, and high serum WBC counts, C-reactive protein (CRP) and G-CSF levels were found in laboratory tests...
October 10, 2016: World Journal of Clinical Oncology
Wei Li, Xiu-Jun Yin, Hua-Ying Liu, Rong Yang
INTRODUCTION: Syphilitic aortic aneurysm (SAA) is caused by tertiary stage of syphilis infection. As the wide application of penicillin, this complication is becoming rarer than before. The SAA with lung cancer is a very rare disease in patient. CASE DESCRIPTION: A 55-year-old male was admitted to the hospital complaining "progressive hoarseness for 3 months" and the patient has been diagnosed with syphilis after specific blood exams, computed tomography angiography (CTA) and 3dimensional (3D) reconstructions of cardiac vessels...
2016: SpringerPlus
Kenneth G Liu, Amit Verma, Olga Derman, Noah Kornblum, Murali Janakiram, Ira Braunschweig, Ramakrishna Battini
BACKGROUND: Population studies showed that patients with JAK2 V617F mutation had increased mortality, and increased risk of any cancer, hematologic cancer, and myeloproliferative disease. CASE PRESENTATION: A 68-year-old Asian male with JAK2 V617F mutation developed four different hematologic and non-hematologic neoplastic processes. In 2009, he was diagnosed with stage IA lung adenocarcinoma and also noted to have worsening leukocytosis and thrombocytosis with peak platelet count of 1,054,000/mL)...
2016: Biomarker Research
Anita Ww Lim, Rebecca Landy, Alejandra Castanon, Antony Hollingworth, Willie Hamilton, Nick Dudding, Peter Sasieni
BACKGROUND: Cervical cancer in young women presents a diagnostic challenge because gynaecological symptoms are common but underlying disease is rare. AIM: To explore the potential for using cytology as a diagnostic aid for cervical cancer in young women. DESIGN AND SETTING: Retrospective review of primary care records and cytology data from the national cervical screening database and national audit of cervical cancers. METHOD: Four datasets of women aged 20-29 years in England were examined: primary care records and national screening data from an in-depth study of cervical cancers; cytology from the national audit of cervical cancers; whole-population cytology from the national screening database; and general-population primary care records from the Clinical Practice Research Datalink...
October 24, 2016: British Journal of General Practice: the Journal of the Royal College of General Practitioners
Alain Luxembourg, Susanne K Kjaer, Mari Nygard, Misoo C Ellison, Thomas Group, J Brooke Marshall, David Radley, Alfred Saah
The 9-valent human papillomavirus (HPV) (9vHPV) vaccine targets four HPV types (6/11/16/18) also covered by the quadrivalent HPV (qHPV) vaccine and five additional types (31/33/45/52/58). Vaccine efficacy to prevent HPV infection and disease was established in a Phase III clinical study in women 16-26years of age. A long-term follow-up (LTFU) study has been initiated as an extension of the Phase III clinical study to assess effectiveness of the 9vHPV vaccine up to at least 14years after the start of vaccination...
October 21, 2016: Contemporary Clinical Trials
John D Hulleman, Joseph C Genereux, Annie Nguyen
Fibulin-3 (F3) is an important, disulfide-rich, extracellular matrix glycoprotein that has been associated with a number of diseases ranging from cancer to retinal degeneration. An Arg345Trp (R345W) mutation in F3 causes the rare, autosomal dominant macular dystrophy, Malattia Leventinese. The purpose of this study was to identify and validate novel intracellular interacting partners of wild-type (WT) and R345W F3 in retinal pigment epithelium cells. We used stable isotope labeling by amino acids in cell culture (SILAC) to generate 'heavy' and 'light' isotopically labeled ARPE-19 cell populations which were subsequently infected with adenovirus encoding for FLAG-tagged (FT) WT or R345W F3...
October 21, 2016: Experimental Eye Research
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