Oncology

Biomedical

Hereditary leiomyomatosis and renal cell cancer syndrome


Introduction: Hereditary leiomyomatosis and renal cell cancer syndrome (HLRCC) is a rare autosomal dominantly inherited cancer predisposing syndrome giving rise to cutaneous and uterine leiomyomatosis, leiomyosarcoma and renal cell cancer. Patients with this syndrome harbours germline pathogenic variants in the fumarate hydratase (FH) gene.Case presentation: A 28-year-old Sri Lankan female, a prod...
2 months ago

Biomedical

Various Histological Types of Renal Cell Carcinoma Associated With Hereditary Papillary Renal Cell Carcinoma (HPRCC): a Case Report


Background: Hereditary papillary renal cell carcinoma (HPRCC) is a rare autosomal dominant disease characterized by the development of multiple and bilateral papillary type I renal cell carcinomas (RCC) and papillary adenomas caused by activating mutations in the MET proto-oncogene. Classically, distinctive histological features of RCC are described according to the familial renal cell carcinoma s...
2 months ago

Biomedical

Sequential therapy for hereditary leiomyomatosis and renal cell cancer-associated renal cell carcinoma: a case report and report of a new family pedigree


Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a rare autosomal-dominant disorder caused by a heterozygous germline mutation in the fumarate hydratase (FH) gene. HLRCC is clinically characterized by the development of three tumors: uterine leiomyomata, cutaneous leiomyomata, and renal cell carcinoma (RCC). HLRCC-associated RCC is aggressive and diagnosed at a much earlier age than spor...
2 months ago

Biomedical

Current prospects of hereditary adrenal tumors: towards better clinical management


Adrenocortical carcinoma (ACC) and pheochromocytoma/paraganglioma (PPGL) are two rare types of adrenal gland malignancies. Regarding hereditary tumors, some patients with ACC are associated with with Li-Fraumeni syndrome (LFS), and those with PPGL with multiple endocrine neoplasia type 2. Recent studies have expanded this spectrum to include other types of hereditary tumors, such as Lynch syndrome...
2 months ago

Biomedical

A second hereditary cancer predisposition syndrome in a patient with lynch syndrome and three primary cancers


Current National Comprehensive Cancer Network ® (NCCN ®) guidelines for Colorectal Genetic/Familial High-Risk Assessment provide limited guidance for genetic testing for individuals with already diagnosed hereditary cancer conditions. We are presenting the case of a 36-year-old woman who was diagnosed with Lynch Syndrome at age 23 after genetic testing for a familial variant (c.283del) in the ML...
2 months ago

Biomedical

Case report: response to immunotherapy and association with the fh gene in hereditary leiomyomatosis and renal cell cancer-associated renal cell cancer


Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a rare autosomal dominant syndrome caused by a germline mutation in the fumarate hydratase (FH) gene that manifests with cutaneous leiomyomas, uterine fibroids, and renal cell cancer (RCC). Patients with HLRCC-associated RCC (HLRCC-RCC) have aggressive clinical courses, but there is no standardized therapy for advanced HLRCC-RCC. In this s...
2 months ago

Biomedical

Fabrication and Testing of a PET insert for Simultaneous PET/FUS/MRI


Glioblastoma (GB) is the most common brain cancer and has limited survivability with a mean survival time of 15 months and an overall survival of less than 7 % after 5 years. Impediments to delivery of large molecule (e.g. antibodies) and cell therapeutics to a tumor include the blood–brain barrier (BBB) and the blood‐tumor barrier (BTB) which prevent large solutes from crossing from circulati...
2 months ago

Biomedical

Effects of PET image reconstruction parameters and tumor-to-background uptake ratio on quantification of PET images from PET/MRI and PET/CT systems


PET/CT and PET/MRI are valuable multimodality imaging techniques for visualizing both functional and anatomical information. The most used PET reconstruction algorithm is Ordered Subset Expectation Maximization (OSEM). In OSEM, the image noise increases with increased number of iterations, and the reconstruction needs to be stopped before complete convergence. The Bayesian penalized likelihood (BP...
2 months ago

Biomedical

18F-FDG PET-CT Scans in Oncology Patients Treated with Hyaluronic Acid Filler: Not Always a Pitfall


The use of hyaluronic acid (HA) fillers in oncology patients undergoing PET-CT scans is a topic of debate due to potential interference with imaging accuracy. A 54-year-old female, postmelanoma metastasectomy in the parotid region with subsequent facial nerve palsy (FNP), received HA filler injections for facial symmetry and functional restoration. Follow-up PET-CT scans showed no interference or ...
2 months ago

Biomedical

Development and implementation of a simple and rapid extraction-free saliva SARS-CoV-2 RT-LAMP workflow for workplace surveillance


Effective management of the COVID-19 pandemic requires widespread and frequent testing of the population for SARS-CoV-2 infection. Saliva has emerged as an attractive alternative to nasopharyngeal samples for surveillance testing as it does not require specialized personnel or materials for its collection and can be easily provided by the patient. We have developed a simple, fast, and sens...
4 months ago

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