Eva Mendes Serrao

Hereditary renal cell carcinoma (RCC) accounts for approximately 5–8% of all renal cancers. This review provides a comprehensive overview of the seven hereditary RCC syndromes recognized by the National Comprehensive Cancer Network: Tuberous Sclerosis Complex (TSC), Von Hippel-Lindau (VHL), Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC), Hereditary Papillary Renal Carcinoma (HPRC), Birt-Hogg-Dubé syndrome (BHDS), Succinate dehydrogenase (SDH)-deficient RCC/Hereditary Paraganglioma/Pheochromocytoma (PGL/PCC) syndrome, and BAP1 tumor predisposition syndrome (BAP1-TPDS). For each syndrome, the underlying inheritance, epidemiology, and clinicopathologic features of their associated RCCs are detailed. Furthermore, radiographic challenges faced in the diagnosis of RCC in some of these syndromes are discussed, including differentiating RCC from the more common lipid-poor AML in TSC, distinguishing papillary RCC from hemorrhagic cysts in HPRC, and discerning chromophobe RCC from oncocytomas in BHDS. Radiologists are integral to the multidisciplinary management of hereditary RCC, as they are often the first to identify clinicopathologic features suggestive of an underlying genetic syndrome. Recognizing these patterns is crucial for prompting timely genetic evaluation, guiding decisions for nephron-sparing interventions, and establishing appropriate surveillance for patients and their at-risk family members. Advances in radiogenomics and artificial intelligence hold promise for further refining non-invasive diagnosis and personalizing patient care.

An Amyand hernia is an incarcerated inguinal hernia containing the appendix with or without appendicitis. This is a rare form of inguinal hernia, making up approximately 0.4%-1% of all cases. As with any hernia, this may become strangulated at any time, leading to the loss of blood supply and further development of gangrene and complications. Clinically, this can present in a manner indistinguishable from other types of inguinal hernias. In addition, the appendix can be affected by its own set of pathological processes, such as infection, inflammation, and malignancy. Not uncommonly both hernial and appendiceal complications coexist. The clinical diagnosis of an Amyand hernia remains challenging due to its low incidence and indistinct clinical presentation. At present, surgery is usually diagnostic and therapeutic. However, there is a growing number of recent reports showing the invaluable role of imaging on the diagnosis of Amyand hernias and associated complications. The correct and timely recognition of their imaging features including complications can optimize and expedite patient care by guiding diagnosis, treatment, and prognosis. Here, we report for the first time the radiological and pathological findings of a patient with a unique complicated Amyand hernia, which posed a diagnostic challenge for the clinical and radiological teams.

Ongoing discoveries in cancer genomics and epigenomics have revolutionized clinical oncology and precision health care. This knowledge provides unprecedented insights into tumor biology and heterogeneity within a single tumor, among primary and metastatic lesions, and among patients with the same histologic type of cancer. Large-scale genomic sequencing studies also sparked the development of new tumor classifications, biomarkers, and targeted therapies. Because of the central role of imaging in cancer diagnosis and therapy, radiologists need to be familiar with the basic concepts of genomics, which are now becoming the new norm in oncologic clinical practice. By incorporating these concepts into clinical practice, radiologists can make their imaging interpretations more meaningful and specific, facilitate multidisciplinary clinical dialogue and interventions, and provide better patient-centric care. This review article highlights basic concepts of genomics and epigenomics, reviews the most common genetic alterations in cancer, and discusses the implications of these concepts on imaging by organ system in a case-based manner. This information will help stimulate new innovations in imaging research, accelerate the development and validation of new imaging biomarkers, and motivate efforts to bring new molecular and functional imaging methods to clinical radiology. Keywords: Oncology, Cancer Genomics, Epignomics, Radiogenomics, Imaging Markers Supplemental material is available for this article. © RSNA, 2023.

Melanoma is the most aggressive form of skin cancer, with tendency to spread to any organ of the human body, including the gastrointestinal tract (GIT). The diagnosis of metastases to the GIT can be difficult, as they may be clinically silent for somewhile and may occur years after the initial melanoma diagnosis. CT imaging remains the standard modality for staging and surveillance of melanoma patients, and in most cases, it will be the first imaging modality to identify GIT lesions. However, interpretation of CT studies in patients with melanoma can be challenging as lesions may be subtle and random in distribution, as well as sometimes mimicking other conditions. Even so, early diagnosis of GIT metastases is critical to avoid emergency hospitalisations, whilst surgical intervention can be curative in some cases. In this review, we illustrate the various imaging presentations of melanoma metastases within the GIT, discuss the clinical aspects and offer advice on investigation and management. We offer tips intended to aid radiologists in their diagnostic skills and interpretation of melanoma imaging scans.

Background: Melanoma is the most aggressive form of skin cancer, with a tendency to metastasise to any organ of the human body. While the most common body organs affected include liver, lungs, brain and soft tissues, spread to the gastrointestinal tract is not uncommon. In the bowel, it can present with a multitude of imaging appearances, more rarely as an aneurysmal dilatation. This appearance is classically associated with lymphoma, but it has more rarely been associated with other forms of malignancy. Case presentation: We report a case series of three patients with aneurysmal dilatation in the small bowel (SB) confirmed to be due to metastatic melanoma (MM). All patients had non-specific symptoms; most times being attributed initially to causes other than melanoma. On CT the identified aneurysmal SB dilatations were diagnosed as presumed lymphoma in all cases. In two cases, the aneurysmal dilatation was the first presentation of metastatic disease and in two of the cases more than one site of the gastrointestinal tract was concomitantly involved. All patients underwent surgical resection with histological confirmation of MM. Conclusions: Recognition of unusual SB presentation of MM, such as aneurysmal SB dilatation, is important to expedite diagnosis, provide appropriate treatment, and consequently improve quality of life and likely survival of these patients. As the most common cancer to metastasise to the SB and as a known imaging mimicker, MM should remain in any radiologist’s differential diagnosis for SB lesions with aneurysmal dilatation.

Metastasis constitutes the primary cause of cancer-related deaths, with the lung being a commonly affected organ. We found that activation of lung-resident group 2 innate lymphoid cells (ILC2s) orchestrated suppression of natural killer (NK) cell-mediated innate antitumor immunity, leading to increased lung metastases and mortality. Using multiple models of lung metastasis, we show that interleukin (IL)-33-dependent ILC2 activation in the lung is involved centrally in promoting tumor burden. ILC2-driven innate type 2 inflammation is accompanied by profound local suppression of interferon-γ production and cytotoxic function of lung NK cells. ILC2-dependent suppression of NK cells is elaborated via an innate regulatory mechanism, which is reliant on IL-5-induced lung eosinophilia, ultimately limiting the metabolic fitness of NK cells. Therapeutic targeting of IL-33 or IL-5 reversed NK cell suppression and alleviated cancer burden. Thus, we reveal an important function of IL-33 and ILC2s in promoting tumor metastasis via their capacity to suppress innate type 1 immunity.

As clinical oncology evolves with new treatment options becoming available, there is an increasing demand on anatomic imaging for the assessment of patients at different stages. Imaging with hyperpolarized 13C-labelled cell substrates has the potential to become a powerful tool in many steps of clinical evaluation, offering a new metabolic metric and therefore a more personalised approach to treatment response. This articles explores the metabolic basis and potential for translation of hyperpolarised pyruvate as a dynamic nuclear polarisation probe in clinical oncology.

We aimed to determine short-term patient-reported outcomes in men having general anesthetic transperineal (TP) prostate biopsies. A prospective cohort study was performed in men having a diagnostic TP biopsy. This was done using a validated and adapted questionnaire immediately post-biopsy and at follow-up of between 7 and 14 days across three tertiary referral hospitals with a response rate of 51.6%. Immediately after biopsy 43/201 (21.4%) of men felt light-headed, syncopal, or suffered syncope. Fifty-three percent of men felt discomfort after biopsy (with 95% scoring <5 in a 0-10 scale). Twelve out of 196 men (6.1%) felt pain immediately after the procedure. Despite a high incidence of symptoms (e.g., up to 75% had some hematuria, 47% suffered some pain), it was not a moderate or serious problem for most, apart from hemoejaculate which 31 men suffered. Eleven men needed catheterization (5.5%). There were no inpatient admissions due to complications (hematuria, sepsis). On repeat questioning at a later time point, only 25/199 (12.6%) of men said repeat biopsy would be a significant problem despite a significant and marked reduction in erectile function after the procedure. From this study, we conclude that TP biopsy is well tolerated with similar side effect profiles and attitudes of men to repeat biopsy to men having TRUS biopsies. These data allow informed counseling of men prior to TP biopsy and a benchmark for tolerability with local anesthetic TP biopsies being developed for clinical use.

To assess if transperineal prostate (TP) biopsy affects th e outcome of robotic-assisted laparoscopic prostatectomy (RALP), with particular reference to perioperative complications, oncological results and functional outcomes in the early postoperative setting. We identified 61 men who had undergone RALP after TP biopsies, from June 2012 to June 2014 and a control group of 120 men who had undergone RALP after conventional TRUS biopsy in the same period. Data was compared from the pre-operative biopsy, peri- and postoperative period, procedural outcomes including histological, oncological and functional outcomes between the groups. The groups had comparable demographics, with matched median ages and PSA levels. There was a higher incidence of Gleason 6 disease detected in the TRUS group (P=0.01). Mean operative time (146 minutes TRUS vs. 158 minutes TP, P=0.133), blood loss (250 mL TRUS vs. 288 mL TP, P=0.462) and intraoperative complications were not significantly different between groups. Median length of stay (1 day) and median catheter duration (7 days) were identical in both cohorts. PSA failure rate at 6 months was similar (11.7% TRUS vs. 9.8% TP, P=0.904). There were no differences in functional outcomes (potency or continence) between groups at 6 month s follow-up. RALP is safe after TP biopsy with no adverse impact on oncological or short-term functional outcomes.

Imaging of the metabolism of hyperpolarized [1‐¹³C]pyruvate has shown considerable promise in preclinical studies in oncology, particularly for the assessment of early treatment response. The repeatability of measurements of ¹³C label exchange between pyruvate and lactate was determined in a murine lymphoma model in fasted and non‐fasted animals. The fasted state showed lower intra‐individual variability, although the [1‐¹³C]lactate/[1‐¹³C]pyruvate signal ratio was significantly greater in fasted than in non‐fasted mice, which may be explained by the higher tumor lactate concentrations in fasted animals. These results indicate that the fasted state may be preferable for the measurement of ¹³C label exchange between pyruvate and lactate, as it reduces the variability and therefore should make it easier to detect the effects of therapy. © 2016 The Authors. NMR in Biomedicine published by John Wiley & Sons Ltd.