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Urinary bladder carcinoma with triplicate differentiations into giant cell sarcomatoid carcinoma, squamous cell carcinoma, and papillary urothelial transitional cell carcinoma: a case report

The author reports a very rare and very unique urinary bladder carcinoma. This carcinoma occurred in a 68-year-old Japanese patient who underwent cystectomy for bladder tumor. The tumor was large polypoid and ulcerated one. Histologically, the tumor consisted of the following three elements: giant cell sarcomatoid carcinoma (70% in area), squamous cell carcinoma (20% in area), and papillary urothe...
Posted 6 months ago

Biomedical

Hereditary non-polyposis colorectal cancer (HNPCC) and its genetic basis

Summary

Introduction

Hereditary non-polyposis colorectal cancer (HNPCC), also known as Lynch syndrome, is an inherited condition that increases the risk of developing colorectal and other types of cancer. It is caused by mutations in one of several genes involved in DNA repair, ...
Posted 6 months ago

Biomedical

Evaluation and comparison of hereditary Cancer guidelines in the population

Background Family health history (FHx) is an effective tool for identifying patients at risk of hereditary cancer. Hereditary cancer clinical practice guidelines (CPG) contain criteria used to evaluate FHx and to make recommendations for genetic consultation. Comparing different CPGs used to evaluate a common set of FHx provides insight into how well the CPGs perform, the extent of agreement acro...
Posted 6 months ago

Biomedical

A sheep in wolf's clothing; a case of renal leiomyoma masquerading as hereditary leiomyomatosis and renal cell carcinoma

Introduction: Active surveillance has become a standard of care for the management of small renal masses. Decision to transition from surveillance to intervention relies on several factors including growth kinetics, histologic grade on biopsy and patient comorbidities. Management of renal masses in pregnancy presents a unique change when clinical triggers must be weighed with risk to fetus. We pre...
Posted 6 months ago

Biomedical

Group plus “mini” individual pre-test genetic counselling sessions for hereditary cancer shorten provider time and improve patient satisfaction

Background Genetic counselling (GC) is an integral component in the care of individuals at risk for hereditary cancer predisposition syndromes (CPS). In many jurisdictions, access to timely counselling and testing is limited by financial constraints, by the shortage of genetics professionals and by labor-intensive traditional models of individual pre and post-test counselling. There is a need for...
Posted 6 months ago

Biomedical

Meeting abstracts from the Annual Conference “Clinical Genetics of Cancer 2022”

Desmoid Tumors and Familial Adenomatous Polyposis:
CTNNB1 mutations are linked to sporadic desmoid disease. Although APC mutations are mainly associated with inherited FAP, some sporadic desmoid cases may involve APC mutations that correlate with tumor development.
Germline Genetic Basis of Cancer:
Large-scale se...
Posted 6 months ago

Biomedical

Hereditary Cancer Syndromes: Identifying and Managing High-Risk Patients

Summary

Hereditary cancer syndromes are inherited conditions that increase the risk of cancer, affecting 5-10% of cases. Key factors for identifying high-risk patients include personal/family cancer history and genetic mutations. Management strategies involve surveillance (screening), risk reduction (lifestyle changes, surgery), and chemoprevent...
Posted 6 months ago

Biomedical

Current status of inherited pancreatic cancer

Background It is estimated that about 10% of pancreatic cancer cases have a genetic background. People with a familial predisposition to pancreatic cancer can be divided into 2 groups. The first is termed hereditary pancreatic cancer, which occurs in individuals with a known hereditary cancer syndrome caused by germline single gene mutations (e.g.,BRCA1/2,CDKN2A). The second is considered as fami...
Posted 6 months ago

Biomedical

Advanced adenomas may be a red flag for hereditary cancer syndromes

Background: 16–25% of colorectal cancers (CRCs) diagnosed under age 50 are associated with hereditary cancer syndromes. Advanced adenomas are considered precursors to CRC. Although polyp removal prevents cancer, polypectomy does not change underlying genetic risk. Patients with isolated advanced polyps do not currently qualify for genetic testing unless they have a personal or family history of ...
Posted 6 months ago

Biomedical

A Gene Therapy for Hereditary Nonpolyposis Colorectal Cancer using CRISPR-Cas9 Nickase

Hereditary non-polyposis colorectal cancer (HNPCC) is an inherited disorder characterized by an increased risk of developing colorectal cancer before age 50. HNPCC is predominantly caused by genetic mutations in MLH1 and MSH2, which are involved in DNA mismatch repair. Current standard practice is to perform prophylactic colectomy, resulting in debilitating aftereffects for life. Though the geneti...
Posted 6 months ago