Tumors in von Hippel–Lindau Syndrome: From Head to Toe—Comprehensive State-of-the-Art Review

Von Hippel–Lindau syndrome (VHL) is an autosomal-dominant hereditary tumor disease that arises owing to germline mutations in the VHL gene, located on the short arm of chromosome 3. Patients with VHL may develop multiple benign and malignant tumors involving various organ systems, including retinal hemangioblastomas (HBs), central nervous system (CNS) HBs, endolymphatic sac tumors, pancreatic neuroendocrine tumors, pancreatic cystadenomas, pancreatic cysts, clear cell renal cell carcinomas, renal cysts, pheochromocytomas, paragangliomas, and epididymal and broad ligament cystadenomas. The VHL/hypoxia-inducible factor pathway is believed to play a key role in the pathogenesis of VHL-related tumors. The diagnosis of VHL can be made clinically when the characteristic clinical history and findings have manifested, such as the presence of two or more CNS HBs. Genetic testing for heterozygous germline VHL mutation may also be used to confirm the diagnosis of VHL. Imaging plays an important role in the diagnosis and surveillance of patients with VHL. Familiarity with the clinical and imaging manifestations of the various VHL-related tumors is important for early detection and guiding appropriate management. The purpose of this article is to discuss the molecular cytogenetics and clinical manifestations of VHL, review the characteristic multimodality imaging features of the various VHL-related tumors affecting multiple organ systems, and discuss the latest advances in management of VHL, including current recommendations for surveillance and screening

Imaging and Management of Bladder Cancer

Methods: Keyword searches of Medline, PubMed, and the Cochrane Library for manuscripts published in English, and searches of references cited in selected articles to identify additional relevant papers. Abstracts sponsored by various societies including the American Urological Association (AUA), European Association of Urology (EAU), and European Society for Medical Oncology (ESMO) were also searched. Background: Bladder cancer is the sixth most common cancer in the United States, and one of the most expensive in terms of cancer care. The overwhelming majority are urothelial carcinomas, more often non-muscle invasive rather than muscle-invasive. Bladder cancer is usually diagnosed after work up for hematuria. While the workup for gross hematuria remains CT urography and cystoscopy, the workup for microscopic hematuria was recently updated in 2020 by the American Urologic Association with a more risk-based approach. Bladder cancer is confirmed and staged by transurethral resection of bladder tumor. One of the main goals in staging is determining the presence or absence of muscle invasion by tumor which has wide implications in regards to management and prognosis. CT urography is the main imaging technique in the workup of bladder cancer. There is growing interest in advanced imaging techniques such as multiparametric MRI for local staging, as well as standardized imaging and reporting system with the recently created Vesicle Imaging Reporting and Data System (VI-RADS). Therapies for bladder cancer are rapidly evolving with immune checkpoint inhibitors, particularly programmed death ligand 1 (PD-L1) and programmed cell death protein 1 (PD-1) inhibitors, as well as another class of immunotherapy called an antibody-drug conjugate which consists of a cytotoxic drug conjugated to monoclonal antibodies against a specific target. Conclusion: Bladder cancer is a complex disease, and its management is evolving. Advances in therapy, understanding of the disease, and advanced imaging have ushered in a period of rapid change in the care of bladder cancer patients

Locally recurrent rectal cancer: what the radiologist should know

International audienceDespite advances in surgical techniques and chemoradiation therapy, recurrent rectal cancer remains a cause of morbidity and mortality. After successful treatment of rectal cancer, patients are typically enrolled in a surveillance strategy that includes imaging as studies have shown improved prognosis when recurrent rectal cancer is detected during imaging surveillance versus based on development of symptoms. Additionally, patients who experience a complete clinical response with chemoradiation therapy may elect to enroll in a "watch-and-wait" strategy that includes imaging surveillance rather than surgical resection. Factors that increase the likelihood of recurrence, patterns of recurrence, and the imaging appearances of recurrent rectal cancer are reviewed with a focus on CT, PET CT, and MR imaging

Sarcoidosis from Head to Toe: What the Radiologist Needs to Know

Sarcoidosis is a multisystem granulomatous disorder characterized by development of noncaseating granulomas in various organs. Although the etiology of this condition is unclear, environmental and genetic factors may be substantial in its pathogenesis. Clinical features are often nonspecific, and imaging is essential to diagnosis. Abnormalities may be seen on chest radiographs in more than 90% of patients with thoracic sarcoidosis. Symmetric hilar and mediastinal adenopathy and pulmonary micronodules in a perilymphatic distribution are characteristic features of sarcoidosis. Irreversible pulmonary fibrosis may be seen in 25% of patients with the disease. Although sarcoidosis commonly involves the lungs, it can affect virtually any organ in the body. Computed tomography (CT), magnetic resonance imaging, and positron emission tomography/CT are useful in the diagnosis of extrapulmonary sarcoidosis, but imaging features may overlap with those of other conditions. Familiarity with the spectrum of multimodality imaging findings of sarcoidosis can help to suggest the diagnosis and guide appropriate management

Mimics and Pitfalls of Primary Ovarian Malignancy Imaging

The complex anatomy and similarity of imaging features of various pathologies in the pelvis can make accurate radiology interpretation difficult. While prompt recognition of ovarian cancer remains essential, awareness of processes that mimic ovarian tumors can avoid potential misdiagnosis and unnecessary surgery. This article details the female pelvic anatomy and highlights relevant imaging features that mimic extra-ovarian tumors, to help the radiologists accurately build a differential diagnosis of a lesion occupying the adnexa

Rectal cancer lexicon: consensus statement from the society of abdominal radiology rectal & anal cancer disease-focused panel

Standardized terminology is critical to providing consistent reports to referring clinicians. This lexicon aims to provide a reference for terminology frequently used in rectal cancer and reflects the consensus of the Society of Abdominal Radiology Disease Focused Panel in Rectal cancer. This lexicon divided the terms into the following categories: primary tumor staging, nodal staging, treatment response, anal canal anatomy, general anatomy, and treatments