Desmoplastic small round cell tumor involving the uterine cervix: The first reported case in the literature, and brief review of gynecologic presentations.

Background: Desmoplastic small round cell tumors are exceedingly rare, usually involve abdominal organs and predominantly affect male patients. We describe the first reported case arising from the uterine cervix and provide a summary of 20 previously reported cases involving gynecologic organs.

Case: A 54 year-old was diagnosed with a rapidly growing 13 cm desmoplastic small round cell tumor of the cervix.

Genomic and Clinical Correlates of Adrenocortical Carcinoma in an Adult Patient with Li-Fraumeni Syndrome: A Case Report.

Li-Fraumeni Syndrome (LFS) is defined by germline mutations of the p53 tumour suppressor gene. Adrenocortical carcinoma (ACC) is a rare aggressive malignancy that is commonly associated with LFS. Most LFS-linked ACC cases occur in children, and limited research has been dedicated to the clinical outcomes and genomics of adult cases with LFS-linked ACC.

ATM whole gene deletion in an Italian family with hereditary pancreatic cancer: Challenges to cancer risk prediction associated with an 11q22.3 microdeletion.

Hereditary pancreatic cancer has been attributed to variants of several cancer predisposition genes including ATM. While heterozygous pathogenic variants in the ATM gene are implicated as a cause of familial breast and pancreatic cancers to our knowledge ATM whole gene deletions have not been previously reported. We describe a contiguous gene deletion of the ATM locus in a multi-generation family of Italian descent with a strong family history of pancreatic cancer.

Colorectal cancer in adolescents and young adults: Defining a growing threat.

Colorectal cancer (CRC) incidence is rising among adolescents and young adults (AYAs), with the greatest increase occurring in distal colon and rectal cancers. Reasons for this striking trend are not well understood. Genetically linked cases of CRC occur in the context of familial conditions such as Lynch Syndrome, but most AYA cases of CRC are sporadic.

Predictors of mammographic density among women with a strong family history of breast cancer.

Background: Mammographic density is one of the strongest risk factors for breast cancer. In the general population, mammographic density can be modified by various exposures; whether this is true for women a strong family history is not known. Thus, we evaluated the association between reproductive, hormonal, and lifestyle risk factors and mammographic density among women with a strong family history of breast cancer but no BRCA1 or BRCA2 mutation.

SDH-deficient renal cell carcinoma - clinical, pathologic and genetic correlates: a case report.

Background: Succinate dehydrogenase (SDH)- deficient renal cell carcinoma (RCC) is a newly identified rare subtype of RCC, having only gained acceptance from the World Health Organization in 2016. To the best of our knowledge, there are only 55 reported cases worldwide. Here, we report a new case of SDH-deficient RCC.

Role of the status of the mesorectal fascia in the selection of patients with rectal cancer for preoperative radiation therapy: a retrospective cohort study.

Background: Patients with rectal cancer in whom the mesorectal fascia is threatened by tumour are more likely than all patients with stage II/III disease to benefit from preoperative radiotherapy (RT). The objective of this study was to assess whether the status of the mesorectal fascia versus a stage II/III designation can best inform the use of preoperative RT in patients undergoing major rectal cancer resection.

Methods: We reviewed the charts of consecutive patients with primary rectal cancer treated by a single surgeon at McMaster University, Hamilton, Ontario, between March 2006 and December 2012.

Serum osteoprotegerin levels and mammographic density among high-risk women.

Purpose: Mammographic density is a risk factor for breast cancer but the mechanism behind this association is unclear. The receptor activator of nuclear factor κB (RANK)/RANK ligand (RANKL) pathway has been implicated in the development of breast cancer. Given the role of RANK signaling in mammary epithelial cell proliferation, we hypothesized this pathway may also be associated with mammographic density.

Quality of preoperative pelvic computed tomography (CT) and magnetic resonance imaging (MRI) for rectal cancer in a region in Ontario: A retrospective population-based study.

Background And Objectives: Treatment decisions for rectal cancer rely on preoperative staging with CT and MRI scans. We assessed the quality of such scans in a region of Ontario.

Methods: We retrospectively collected data for patients undergoing rectal cancer surgery between July 2011 and December 2014.

Association between the Lynch syndrome gene MSH2 and breast cancer susceptibility in a Canadian familial cancer registry.

Background: Previous studies assessing breast cancer risk in families with Lynch syndrome (LS) have yielded conflicting results. Furthermore, conclusions are limited by small sample size and few breast cancer outcomes. This study assesses breast cancer risk in a large prospectively followed LS cohort.

Targeted metabolomics in colorectal cancer: a strategic approach using standardized laboratory tests of the blood and urine.

Background: Glycolytic markers have been detected in colorectal cancer (CRC) using advanced analytical methods.

Methods: Using commercially available assays, by-products of anaerobic metabolism were prospectively measured in the blood and urine of 20 patients with metastatic colorectal cancer (mCRC) and 20 patients with local disease. Twenty-four-hour urine citrate, plasma lactate, ketones, venous blood gas, anion gap, and osmolar gap were investigated.

Utility of the Edmonton Frail Scale in identifying frail elderly patients during treatment of colorectal cancer.

Background: Frailty has been proposed by geriatricians as an indicator of functional age. The Edmonton Frail Scale (EFS) is a 15-point incremental scale; it is quick (<5 min), and simple to administer. We conducted an exploratory study to establish if the EFS add utility to clinician's expertise by determining if there was an association between EFS and receipt of chemotherapy in colorectal cancer (CRC) patients.

Thrombotic events in metastatic colorectal cancer patients treated with leucovorin, fluorouracil and irinotican (FOLFIRI) plus bevacizumab.

Objective: To determine the incidence and risk factors for thrombotic events (TEs) in patients with metastatic colorectal cancer (mCRC) who received bevacizumab (BV) and FOLFIRI (leucovorin, fluorouracil and irinotican) compared to FOLFIRI alone.

Methods: Single institution retrospective study of 450 mCRC patients who received either BV plus FOLFIRI or FOLFIRI alone between April 2004 and August 2012. Demographics, TE risk factors, and treatment data were abstracted from patients' records.

Prospective study of high-risk, BRCA1/2-mutation negative women: the 'negative study'.

Background: We previously reported that women from high-risk families who tested negative for a BRCA1 or BRCA2 (BRCA1/2) mutation were four times more likely to develop breast cancer compared to women in the general population. Preventive measures and risk factors for breast cancer development in these high-risk women have not been evaluated to the same extent as BRCA1/2 positive women. Further, there is virtually no scientific evidence about best practices in their management and care.

Epidermal growth factor receptor: pathway, therapies, and pipeline.

Background: The epidermal growth factor receptor (EGFR) pathway is important in tumor growth, survival, and metastasis and is now the target of several therapeutic agents.

Objectives: This paper seeks to review the EGFR pathway, the study and use of EGFR-directed agents in non-small-cell lung cancer (NSCLC) and colorectal cancer (CRC), and related new drug development.

Methods: PubMed was searched for English-language articles by MeSH and title terms of EGFR published from 2006 to 2013, using the limits of clinical trials as well as reviews.

Accelerated muscle and adipose tissue loss may predict survival in pancreatic cancer patients: the relationship with diabetes and anaemia.

Weight loss leading to cachexia is associated with poor treatment response and reduced survival in pancreatic cancer patients. We aim to identify indicators that allow for early detection that will advance our understanding of cachexia and will support targeted anti-cachexia therapies. A total of fifty pancreatic cancer patients were analysed for skeletal muscle and visceral adipose tissue (VAT) changes using computed tomography (CT) scans.

BRCA2 variants and cardiovascular disease in a multi-ethnic study.

Background: Germline mutations of BRCA1/2 are associated with hereditary breast and ovarian cancer. Recent data suggests excess mortality in mutation carriers beyond that conferred by neoplasia, and recent in vivo and in vitro studies suggest a modulatory role for BRCA proteins in endothelial and cardiomyocyte function. We therefore tested the association of BRCA2 variants with clinical cardiovascular disease (CVD).

Declining incidence of breast cancer after decreased use of hormone-replacement therapy: magnitude and time lags in different countries.

Throughout the latter half of the 20th century, hormone-replacement therapy (HRT) use steadily increased in the Western world. In 2002, the early termination of the Women's Health Initiative trial due to an excess of adverse events attributable to HRT, led to a precipitous decline in its use. Breast cancer incidence began to decline soon thereafter in the USA and several other countries.

Colorectal cancer in young adults.

Colorectal cancer (CRC) is rare in young adults. It presents more frequently with stage 3 or 4 disease, underscoring its relevance in this population. Prognosis, matched for stage of disease at presentation, is likely similar to that in older adults, although survival is clearly lower for the youngest subgroups within this population.

Germline mutations and variants in the succinate dehydrogenase genes in Cowden and Cowden-like syndromes.

Individuals with PTEN mutations have Cowden syndrome (CS), associated with breast, thyroid, and endometrial neoplasias. Many more patients with features of CS, not meeting diagnostic criteria (termed CS-like), are evaluated by clinicians for CS-related cancer risk. Germline mutations in succinate dehydrogenase subunits SDHB-D cause pheochromocytoma-paraganglioma syndrome.