Context: Carcinoids have rarely been described in von Hippel-Lindau (VHL) disease.
Objective: We describe the first reported case of a patient with VHL who developed a pulmonary carcinoid that subsequently metastasized to a pre-existent cranial hemangioblastoma.
Results: Histological and immunohistochemical features of the metastatic lesion were similar to the primary carcinoid. Both lesions demonstrated heterozygous VHL gene deletions with fluorescence in situ hybridization analysis.
Conclusions: This case provides direct molecular genetic evidence of an association between VHL and carcinoids.
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http://dx.doi.org/10.1210/jc.2014-1732 | DOI Listing |
Laryngoscope
January 2025
Department of Otology and Skull Base Surgery, Eye, Ear, Nose, and Throat Hospital, Fudan University, Shanghai, China.
Objective: Endolymphatic sac tumors (ELSTs), as rare low-grade neoplasms, are primarily treated with surgery. This study analyzes the characteristics of tumor-infiltrating leukocytes (TILs) in ELSTs and their relationships with clinical features to explore the potential for immunotherapy in ELSTs.
Methods: Clinical data and tumor specimens of 10 ELSTs patients who underwent surgery were retrieved.
Int J Biol Sci
January 2025
Department of Urology, the First Affiliated Hospital of Anhui Medical University, Anhui Medical University, Hefei, Anhui, PR China.
The current research revealed a strong link between lipid reprogramming and dysregulated lipid metabolism to the genesis and development of clear cell renal cell carcinoma (ccRCC). Pathologically, ccRCC exhibits a high concentration of lipid droplets within the cytoplasm. HIF-2α expression has previously been demonstrated to be elevated in ccRCC caused by mutations in the von Hippel-Lindau (VHL) gene, which plays a vital role in the development of renal cell carcinoma.
View Article and Find Full Text PDFCurr Cancer Drug Targets
January 2025
Medical Oncology, Department of Medical and Surgical Sciences, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.
Systemic therapy for metastatic Renal Cell Carcinoma (mRCC) has dramatical-ly improved in the last years because of the use of immunotherapy with checkpoint inhibi-tor combinations with or without targeted therapies against the Vascular Endothelial Growth Factor Receptors (VEGFR). As a result, patients with mRCC have prolonged sur-vival time, but they ultimately develop resistance and the disease progresses, which high-lights the critical need for novel treatment options. The Hypoxia-inducible Factor (HIF) pathway is central to the pathophysiology of ccRCC and von Hippel-Lindau (VHL) disease.
View Article and Find Full Text PDFHead Neck Pathol
January 2025
Department of Otolaryngology - Head and Neck Surgery, Harvard Medical School, Boston, MA, USA.
We present the case of a 51-year-old man with Von Hippel-Lindau disease and a history of renal transplantation who developed a persistent, painful tongue lesion with episodes of significant swelling. Given his history of prolonged immunosuppression and elevated cancer risk, oral squamous cell carcinoma was a major concern. However, histopathological evaluation confirmed recrudescent herpes simplex virus (HSV) infection rather than malignancy.
View Article and Find Full Text PDFCurr Oncol Rep
January 2025
Neuroendocrine Tumour Unit, ENETS Centre of Excellence, 1st Department of Propaedeutic and Internal Medicine, Laiko Hospital, National and Kapodistrian University of Athens, Agiou Thoma 17, Athens, 11527, Greece.
Purpose Of Review: The purpose of this review is to outline the current knowledge on epidemiology, diagnosis and management of neuroendocrine neoplasms (NENs) that develop in the context of Von Hippel-Lindau (VHL) syndrome.
Recent Findings: Pancreatic NENs develop in 8-17% of VHL patients (vPNENs) and are mostly multi-focal, cystic and non-functioning. Surgical resection is recommended for vPNENS > 3 cm that exhibit higher metastatic potential or in tumors with short doubling time while in the 20% of cases with metastatic disease the HIF-2 A inhibitor belzutifan is considered a promising option.
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