Genetic syndromes associated with pancreatic neuroendocrine neoplasms and imaging diagnostic strategies.

Pancreatic neuroendocrine neoplasms (pNENs) are the second most common pancreatic malignancy. While most cases are sporadic, a small proportion is associated with genetic syndromes, such as Multiple Endocrine Neoplasia (MEN), Von Hippel-Lindau Syndrome (VHL), Neurofibromatosis Type 1 (NF1), and Tuberous Sclerosis Complex (TSC). This review aims to use pNENs as a clue to reveal the full spectrum of disease, providing a comprehensive understanding of diagnosis.

The Current State of the Diagnoses and Treatments for Clear Cell Renal Cell Carcinoma.

Clear cell renal cell carcinoma is the most common form of kidney cancer, accounting for 75% of malignant kidney tumors, and is generally associated with poor patient outcomes. With risk factors including smoking, obesity, and hypertension, all of which have a high prevalence in the United States and Europe, as well as genetic factors including tuberous sclerosis complex and Von Hippel-Lindau syndrome, there is an increasing need to expand our present understanding. The current clear cell renal cell carcinoma knowledge is outdated, with obsolete diagnostic criteria and moderately invasive surgical treatments still prevailing, partially ascribed to its resistance to chemotherapy and radiation therapy.

Is the TriNetX Database a Good Tool for Investigation of Real-World Management of Von Hippel-Lindau?

Von Hippel-Lindau (vHL) is a hereditary disease characterized by the development of benign and malignant tumors across multiple organ systems. It is seen in approximately 1 in 36,000 live births. Given that vHL is a rare disease, studies that seek to characterize vHL are often hampered by small sample sizes.

Kidney cancer: From tumor biology to innovative therapeutics.

Renal cell carcinoma (RCC) constitutes the most frequent kidney cancer of the adult population and one of the most lethal malignant tumors worldwide. RCC often presents without early symptoms, leading to late diagnosis. Prognosis varies widely based on the stage of cancer at diagnosis.

[Diagnostic and therapeutic perspectives in RASopathies].

RASopathies are congenital diseases that manifest in childhood with symptoms and potential complications, typically associated with an elevated tumour predisposition risk. The heterogeneous symptoms involve mostly central nervous, cardiovascular, musculoskeletal systems and skin, and modified growth pattern. From molecular perspective, the function of a key protein involved in Ras signalling is impaired, leading to disrupted regulation of cell growth and division.

[Stereotactic radiotherapy of spinal hemangioblastoma].

Hemangioblastoma (HAB) is a benign, richly vascularized tumor that accounts for 2-6% of all spinal cord neoplasms and ranks third in the structure of intramedullary space-occupying lesions of the spinal cord. Hemangioblastoma may occur sporadically or, in approximately 30% of cases, as part of the clinical picture of a hereditary disease, von Hippel-Lindau disease. The aim of this study was to evaluate the efficacy and safety of stereotactic irradiation of hemangioblastomas of the spinal localization in patients with sporadic and von Hippel-Lindau-associated hemangioblastomas The results of stereotactic radiotherapy were evaluation of 210 spinal hemangioblastomas in 74 patients.

Research on the effect of LAMP1 in the development and progression of ccRCC and its potential mechanism with LC3C-mediated autophagy.

Background: Lysomembrane-associated protein 1 (LAMP1), known to exhibit differential expression in various tumor types and play a crucial role in the development of tumors. Clear cell Renal Cell Carcinoma (ccRCC) is still the most common pathological type of renal carcinoma with poor prognosis. However, the expression of LAMP1 and its underlying molecular mechanism with ccRCC remain elusive.

Surveillance in Children and Adolescents with von Hippel-Lindau (VHL)-Related Pheochromocytomas and Paragangliomas: A Survey of MET and Freiburg-VHL Registries in Germany.

Early identification of patients at risk with von Hippel-Lindau (VHL) syndrome-related pheochromocytoma and paraganglioma (PPGL) is crucial to prevent morbidity. We investigated the current surveillance recommendations in VHL-related PPGL in children and adolescents. German Pediatric Oncology and Hematology-Malignant Endocrine Tumor registry (GPOH-MET) and Freiburg-VHL registry (1996-2022).

Von Hippel-Lindau deficiency protects the liver against ischemia/reperfusion injury through the regulation of hypoxia-inducible factor 1α and 2α.

Background: Ischemia and reperfusion (I/R)-induced liver injury contributes to morbidity and mortality during hepatic surgery or liver transplantation. As a pivotal regulator of cancer and inflammation, the role of Von Hippel-Lindau (VHL) in hepatic I/R injury remains undetermined.

Methods: We investigated the role of VHL in hepatic I/R injury by generating VHL conditional knockout (VHL-KO) mice.

Non-O1/non-O139 Vibrio cholerae bacteraemia and cholangitis: an unusual case in an oncological patient in Lecco Hospital, Italy.

Only toxigenic serogroups O1 and O139 Vibrio cholerae have been associated with widespread cholera epidemics. Other serogroups (non-O1/non-O139 Vibrio cholerae or NOVC) most often cause sporadic gastrointestinal manifestations. Rarely, NOVC can result in severe extraintestinal manifestations in immunocompromised hosts.

Generation of TWO iPSC lines (CRICKi009-A; CRICKi010-A) from patients with type 1 von Hippel-Lindau (VHL) and histopathologically confirmed renal cell carcinoma (RCC).

VHL disease is an inherited and autosomal dominant disorder affecting 1 in 36,0000 individuals worldwide. It is caused by von Hippel-Lindau (VHL) gene mutations and can affect both genders and all ethnic backgrounds (Nordstrom-O'Brien et al., 2009; Maher, 2004).

Atractylenolide I inhibits angiogenesis and reverses sunitinib resistance in clear cell renal cell carcinoma through ATP6V0D2-mediated autophagic degradation of EPAS1/HIF2α.

Clear cell renal cell carcinoma (ccRCC) is tightly associated with (von Hippel-Lindau tumor suppressor) mutation and dysregulated angiogenesis. Accumulating evidence indicates that antiangiogenic treatment abolishing tumor angiogenesis can achieve longer disease-free survival in patients with ccRCC. Atractylenolide I (ATL-I) is one of the main active compounds in root extract and exhibits various pharmacological effects, including anti-inflammatory and antitumor effects.

[Genetics in nephrology - any news?].

While genetic kidney diseases were long regarded as a rare cause of kidney failure, it has been shown in recent years that they account for a relevant proportion of cases. In cohorts of kidney transplant recipients, a monogenic cause is found in up to 30% of cases. Identifying the genetic cause of kidney disease has become much easier thanks to technological advances in DNA sequencing.