Update on Pathologic Conditions, Imaging Findings, Prevention, and Management of Human Papillomavirus-related Neoplasms.

Human papillomavirus (HPV) is the most common sexually transmitted infection that proliferates in the squamous epithelium and is the most common source of viral-related neoplasms. Low-risk subtypes (HPV-6 and -11) cause respiratory papillomas (laryngeal, tracheal, and bronchial) and condyloma acuminata of the penis, anus, and perineal region (anogenital warts). High-risk subtypes (HPV-16, -18, -31, and -33) are responsible for oropharyngeal squamous cell carcinoma (SCC) that involves the tongue base, tonsils, posterior pharyngeal wall, and larynx and malignancies of the anogenital region (cancers of the cervix, vagina, vulva, penis, and anal canal). Recent studies have increasingly shown a favorable treatment response and substantial differences in the overall prognosis associated with HPV-associated oropharyngeal cancers. Given this fact, oropharyngeal, cervical, and penile SCCs are classified as HPV-associated and HPV-independent cancers in the current World Health Organization classification. Imaging is essential in the early detection, diagnosis, and staging of HPV-associated cancers. Imaging also helps assess treatment response and postoperative complications and is used for long-term surveillance. HPV-associated oropharyngeal SCCs have well-defined borders and solid and cystic nodal metastases at imaging. Updated screening and vaccination guidelines are currently available that have great potential to decrease the overall disease burden and help control this worldwide public health concern. Novel therapeutic strategies, such as immunotherapies, are being explored, and imaging biomarkers that can predict treatment response and prognosis are being investigated; radiologists play a pivotal role in these efforts. ©RSNA, 2024 Supplemental material is available for this article.

Mesotheliomas and Benign Mesothelial Tumors: Update on Pathologic and Imaging Findings.

A diverse spectrum of benign entities and malignant neoplasms originate from the monotonous mesothelium that lines the serosal membranes of the pleural, pericardial, and peritoneal cavities. The mesothelium of myriad sites shows a common origin from the lateral plate mesoderm; primary mesothelial tumors thus demonstrate similar pathogenesis, imaging findings, and treatment options. Significant changes have been made in the 2021 World Health Organization (WHO) classification schemata of the pleural and pericardial tumors on the basis of recent advances in pathology and genetics. While malignant mesotheliomas are biologically aggressive malignancies that occur primarily in patients exposed to asbestos with attendant poor survival rates, well-differentiated papillary mesothelial tumors and adenomatoid tumors charter a benign clinical course with an excellent prognosis. Mesothelioma in situ is a newly characterized entity represented by recurrent unexplained pleural effusions without any identifiable mass at imaging or thoracoscopy. Immunohistochemical markers based on BAP1, MTAP, CDKN2A, and TRAF7 gene mutations help differentiate diffuse mesotheliomas from benign mesothelial proliferations and localized mesotheliomas. Cross-sectional imaging modalities, including US, CT, MRI, and fluorine 18-fluorodeoxyglucose (FDG) PET/CT, permit diagnosis and play a major role in staging and assessing surgical resectability. Imaging studies are invaluable in providing noninvasive and quantitative assessment of tumor response in patients with unresectable disease. Owing to significant overlap in patient characteristics and pathomorphology, accurate diagnosis based on advanced histopathology techniques and genetic abnormalities is imperative for optimal management and prognostication. While patients with nonepithelioid pleural mesotheliomas benefit from immunotherapy, novel targeted therapies for CDKN2A-, NF2-, and BAP1-altered mesotheliomas are under consideration. © RSNA, 2023 Quiz questions for this article are available through the Online Learning Center.

Wunderlich Syndrome: Comprehensive Review of Diagnosis and Management.

Wunderlich syndrome (WS), which was named after Carl Wunderlich, is a rare clinical syndrome characterized by an acute onset of spontaneous renal hemorrhage into the subcapsular, perirenal, and/or pararenal spaces, without a history of antecedent trauma. Patients may present with a multitude of symptoms ranging from nonspecific flank or abdominal pain to serious manifestations such as hypovolemic shock. The classic symptom complex of flank pain, a flank mass, and hypovolemic shock referred to as the Lenk triad is seen in a small subset of patients. Renal neoplasms such as angiomyolipomas and clear cell renal cell carcinomas that display an increased proclivity for hemorrhage and rupture contribute to approximately 60%-65% of all cases of WS. A plethora of renal vascular diseases (aneurysms or pseudoaneurysms, arteriovenous malformations or fistulae, renal vein thrombosis, and vasculitis syndromes) account for 20%-30% of cases of WS. Rare causes of WS include renal infections, cystic diseases, calculi, kidney failure, and coagulation disorders. Cross-sectional imaging modalities, particularly multiphasic CT or MRI, are integral to the detection, localization, and characterization of the underlying causes and facilitate optimal management. However, large-volume hemorrhage at patient presentation may obscure underlying causes, particularly neoplasms. If the initial CT or MRI examination shows no contributary causes, a dedicated CT or MRI follow-up study may be warranted to establish the cause of WS. Renal arterial embolization is a useful, minimally invasive, therapeutic option in patients who present with acute or life-threatening hemorrhage and can help avoid emergency radical surgery. Accurate diagnosis of the underlying cause of WS is critical for optimal patient treatment in emergency and nonemergency clinical settings. ©RSNA, 2023 Quiz questions for this article are available through the Online Learning Center.

Factors Limiting Magnetic Resonance Imaging Diagnosis of Placenta Accreta Spectrum.

OBJECTIVE: Placenta accreta spectrum (PAS) disorders are characterized by an abnormal adherence of the placenta to the uterine myometrium. Magnetic resonance imaging (MRI) is an important adjunct in antenatal diagnosis. We sought to determine if there are patient and MRI characteristics that limit the accuracy of PAS diagnosis and degree of invasion. STUDY DESIGN: We conducted a retrospective cohort analysis of patients who were evaluated for PAS by MRI from January 2007 to December 2020. Patient characteristics evaluated included number of prior cesarean deliveries, history of dilation and curettage (D&C) or dilation and evacuation (D&E), short interval pregnancy less than 18 months, and delivery body mass index (BMI). All patients were followed until delivery and MRI diagnosis was compared with final histopathology. RESULTS: Of the 353 patients with suspected PAS, 152 (43%) underwent MRI evaluation and were included in the final analysis. In patients who underwent MRI evaluation, 105 (69%) had confirmed PAS on pathology. Patient characteristics were similar between groups and not associated with accuracy of MRI diagnosis. MRI was accurate in diagnosing PAS and the associated degree of invasion in 83 (55%) patients. Accuracy was associated with lacunae (8 vs. 0%, p = 0.02), abnormal bladder interface (25 vs. 6%, p = 0.002), and T1 hyperintensity (13 vs. 1%, p = 0.002). Of the 69 (45%) patients in whom MRI was inaccurate, overdiagnosis was seen in 44 (64%) patients and underdiagnosis in 25 (36%) patients. Overdiagnosis was significantly associated with dark T2 bands (45 vs. 22%, p = 0.005). Underdiagnosis was associated with earlier gestational age at MRI (28 vs. 30 weeks, p = 0.049) and lateral placentation (16 vs. 2.4%, p = 0.025). CONCLUSION: Patient factors did not change MRI accuracy of PAS diagnosis. MRI is associated with a significant overdiagnosis of PAS when dark T2 bands are present, and underdiagnose PAS when performed earlier in gestation or when lateral placentation is present. KEY POINTS: · Patient factors are not associated with MRI accuracy of PAS diagnosis.. · MRI overdiagnoses PAS invasion when there are dark T2 bands.. · MRI underdiagnoses PAS invasion when performed earlier in gestation.. · Underdiagnosis of PAS is associated with lateral placentation..

Mesenchymal Neoplasms of the Prostate and Seminal Vesicles: Spectrum of Disease with Radiologic-Pathologic Correlation.

There is a wide spectrum of benign and malignant mesenchymal neoplasms of the prostate, which account for less than 1% of all prostatic tumors. These include distinctive tumors that arise from the specialized prostatic stroma and site-agnostic neoplasms such as smooth muscle tumors, fibrous or myofibroblastic neoplasms, neurogenic tumors, vascular tumors, and a plethora of sarcomas. Select tumors show classic sites of origin within the prostate. While stromal tumors of uncertain malignant potential (STUMPs) commonly involve the peripheral zone at the prostate base, leiomyomas typically originate from the central prostate toward the apex. Some "prostatic" neoplasms such as gastrointestinal stromal tumors, solitary fibrous tumor (SFT), paragangliomas, and neurogenic tumors arise primarily from periprostatic soft tissues. Most mesenchymal tumors of the prostate and seminal vesicles manifest as large tumors that cause nonspecific symptoms; prostate-specific antigen level is not typically elevated. Diverse mesenchymal neoplasms demonstrate characteristic histopathologic and immunocytochemical features and variable cross-sectional imaging findings. While leiomyoma and SFT typically display low signal intensity on T2-weighted images, synovial sarcomas commonly show hemorrhage. Diagnosis is difficult because of the rarity and lack of awareness of the tumors and the significant overlap in histopathologic features. Select tumors show characteristic genetic abnormalities that allow the diagnosis to be established. For example, more than 90% of SFTs are characterized by a unique NAB2-STAT6 gene fusion, and more than 95% of synovial sarcomas are associated with a distinctive SYT-SSX chimeric transcript. Accurate diagnosis is imperative for optimal management owing to markedly different tumor biology as well as attendant therapeutic and prognostic implications. While STUMPs commonly recur, sarcomas typically charter an aggressive course with poor prognosis. Online supplemental material is available for this article. ©RSNA, 2022.

Gastrointestinal Manifestations of Immunodeficiency: Imaging Spectrum.

There is a wide spectrum of hereditary and acquired immunodeficiency disorders that are characterized by specific abnormalities involving a plethora of humoral, cellular, and phagocytic immunologic pathways. These include distinctive primary immunodeficiency syndromes due to characteristic genetic defects and secondary immunodeficiency syndromes, such as AIDS from HIV infection and therapy-related immunosuppression in patients with cancers or a solid organ or stem cell transplant. The gut mucosa and gut-associated lymphoid tissue (the largest lymphoid organ in the body), along with diverse commensal microbiota, play complex and critical roles in development and modulation of the immune system. Thus, myriad gastrointestinal (GI) symptoms are common in immunocompromised patients and may be due to inflammatory conditions (graft versus host disease, neutropenic enterocolitis, or HIV-related proctocolitis), opportunistic infections (viral, bacterial, fungal, or protozoal), or malignancies (Kaposi sarcoma, lymphoma, posttransplant lymphoproliferative disorder, or anal cancer). GI tract involvement in immunodeficient patients contributes to significant morbidity and mortality. Along with endoscopy and histopathologic evaluation, imaging plays an integral role in detection, localization, characterization, and distinction of GI tract manifestations of various immunodeficiency syndromes and their complications. Select disorders demonstrate characteristic findings at fluoroscopy, CT, US, and MRI that permit timely and accurate diagnosis. While neutropenic enterocolitis affects the terminal ileum and right colon and occurs in patients receiving chemotherapy for hematologic malignancies, Kaposi sarcoma commonly manifests as bull's-eye lesions in the stomach and duodenum. Imaging is invaluable in treatment follow-up and long-term surveillance as well. Online supplemental material is available for this article. ©RSNA, 2022.

Morphomolecular Classification Update on Hepatocellular Adenoma, Hepatocellular Carcinoma, and Intrahepatic Cholangiocarcinoma.

Hepatocellular adenomas (HCAs), hepatocellular carcinomas (HCCs), and intrahepatic cholangiocarcinomas (iCCAs) are a highly heterogeneous group of liver tumors with diverse pathomolecular features and prognoses. High-throughput gene sequencing techniques have allowed discovery of distinct genetic and molecular underpinnings of these tumors and identified distinct subtypes that demonstrate varied clinicobiologic behaviors, imaging findings, and complications. The combination of histopathologic findings and molecular profiling form the basis for the morphomolecular classification of liver tumors. Distinct HCA subtypes with characteristic imaging findings and complications include HNF1A-inactivated, inflammatory, ß-catenin-activated, ß-catenin-activated inflammatory, and sonic hedgehog HCAs. HCCs can be grouped into proliferative and nonproliferative subtypes. Proliferative HCCs include macrotrabecular-massive, TP53-mutated, scirrhous, clear cell, fibrolamellar, and sarcomatoid HCCs and combined HCC-cholangiocarcinoma. Steatohepatitic and ß-catenin-mutated HCCs constitute the nonproliferative subtypes. iCCAs are classified as small-duct and large-duct types on the basis of the level of bile duct involvement, with significant differences in pathogenesis, molecular signatures, imaging findings, and biologic behaviors. Cross-sectional imaging modalities, including multiphase CT and multiparametric MRI, play an essential role in diagnosis, staging, treatment response assessment, and surveillance. Select imaging phenotypes can be correlated with genetic abnormalities, and identification of surrogate imaging markers may help avoid genetic testing. Improved understanding of morphomolecular features of liver tumors has opened new areas of research in the targeted therapeutics and management guidelines. The purpose of this article is to review imaging findings of select morphomolecular subtypes of HCAs, HCCs, and iCCAs and discuss therapeutic and prognostic implications. Online supplemental material is available for this article. ©RSNA, 2022.

Human Gut Microbiota-associated Gastrointestinal Malignancies: A Comprehensive Review.

The human gastrointestinal tract houses trillions of microbes. The gut and various types of microorganisms, including bacteria, viruses, fungi, and archaea, form a complex ecosystem known as the gut microbiota, and the whole genome of the gut microbiota is referred to as the gut microbiome. The gut microbiota is essential for homeostasis and the overall well-being of a person and is increasingly considered an adjunct "virtual organ," with a complexity level comparable to that of the other organ systems. The gut microbiota plays an essential role in nutrition, local mucosal homeostasis, inflammation, and the mucosal immune system. An imbalanced state of the gut microbiota, known as dysbiosis, can predispose to development of various gastrointestinal malignancies through three speculated pathogenic mechanisms: (a) direct cytotoxic effects with damage to the host DNA, (b) disproportionate proinflammatory signaling inducing inflammation, and (c) activation of tumorigenic pathways or suppression of tumor-suppressing pathways. Several microorganisms, including Helicobacter pylori, Epstein-Barr virus, human papillomavirus, Mycoplasma species, Escherichia coli, and Streptococcus bovis, are associated with gastrointestinal malignancies such as esophageal adenocarcinoma, gastric adenocarcinoma, gastric mucosa-associated lymphoid tissue lymphoma, colorectal adenocarcinoma, and anal squamous cell carcinoma. Imaging plays a pivotal role in diagnosis and management of microbiota-associated gastrointestinal malignancies. Appropriate use of probiotics, fecal microbiota transplantation, and overall promotion of the healthy gut are ongoing areas of research for prevention and treatment of malignancies. Online supplemental material is available for this article. ©RSNA, 2021.

Testicular Germ Cell Tumors: Classification, Pathologic Features, Imaging Findings, and Management.

Testicular germ cell tumors (TGCTs) demonstrate a wide variety of histopathologic, genetic, pathogenetic, and immunocytochemical characteristics and various clinical-biologic profiles and prognoses. Most TGCTs arise from an intratubular precursor cell referred to as germ cell neoplasia in situ (GCNIS), which is an embryonic germ cell with the potential to differentiate into a plethora of embryonic and extraembryonic lineages. Advances in pathologic examination and genetics paved the way for the 2016 World Health Organization (WHO) classification system, which recognizes two pathogenetically distinct groups of TGCTs. Although postpubertal tumors originate from GCNIS, almost all prepubertal tumors belong to the non-GCNIS category. Molecular testing for chromosome 12p amplification helps to distinguish the two tumor categories. Imaging techniques such as US, CT, MRI, and fluorine 18 (18F)-fluorodeoxyglucose PET/CT are pivotal to the diagnosis and staging, evaluation of complications and treatment response, and long-term surveillance of TGCTs. In addition, select MRI findings may help to differentiate a seminoma from a nonseminomatous mixed TGCT. Accurate diagnosis of TGCTs has therapeutic and prognostic implications. Although seminomas show exquisite response to chemotherapy and radiation therapy, postpubertal teratomas are highly resistant to both. The 2016 WHO classification system introduced changes in the diagnosis and management of TGCTs, including the development of new treatment and follow-up guidelines. Radiologists play an essential role in the optimal treatment of patients with TGCTs. Online supplemental material is available for this article. ©RSNA, 2021.

Mucin-producing Cystic Hepatobiliary Neoplasms: Updated Nomenclature and Clinical, Pathologic, and Imaging Features.

Cystic hepatobiliary neoplasms with mucin-producing epithelium-mucinous cystic neoplasm of the liver (MCN) and intraductal papillary neoplasm of the bile duct (IPNB)-are rare and distinct entities that have unique clinical, pathologic, and imaging features. They are differentiated pathologically by the presence of subepithelial ovarian-like hypercellular stroma (OLS), which is the defining histopathologic feature of MCN. MCN is commonly a benign, large, solitary, symptomatic, multiloculated cystic mass without biliary communication that occurs in middle-aged women. On the other hand, IPNBs are a heterogeneous spectrum of tumors, which are commonly associated with invasive carcinoma, occur in older patients, and can be differentiated from MCN by communication with the biliary tree, intraductal masses, associated biliary ductal dilatation, and absent OLS. Understanding of these rare neoplasms has grown and evolved over time and continues to today, but uncertainty and controversy persist, related to the rarity of these tumors, relatively recent designation as separate entities, inherent clinicopathologic heterogeneity, overlapping imaging features, and the fact that many prior studies likely included MCN and cystic IPNB together as a single entity. Confusion regarding these neoplasms is evident by historical inconsistencies and nonstandardized nomenclature through the years. Awareness of these entities is important for the interpreting radiologist to suggest a particular diagnosis or generate a meaningful differential diagnosis in the appropriate setting, and is of particular significance as MCN and cystic IPNB have overlapping imaging features with other more common hepatobiliary cystic masses but have different management and prognosis. Online supplemental material is available for this article. Work of the U.S. Government published under an exclusive license with the RSNA.

Tuberous Sclerosis: Current Update.

Tuberous sclerosis complex (TSC) is a relatively rare autosomal dominant neurocutaneous disorder secondary to mutations in the TSC1 or TSC2 tumor suppressor genes. Although manifestation of the classic triad of seizures, intellectual disability, and facial angiofibromas may facilitate timely diagnosis of TSC, the multisystem features that may indicate TSC in the absence of these manifestations remain highly variable. In addition, patients with TSC are at risk of developing multiple benign and malignant tumors in various organ systems, resulting in increased morbidity and mortality. Thus, imaging plays a critical role in diagnosis, surveillance, and management of patients with TSC. It is crucial that radiologists be familiar with TSC and the various associated imaging features to avoid a delayed or incorrect diagnosis. Key manifestations include cortical dysplasias, subependymal nodules, subependymal giant cell astrocytomas, cardiac rhabdomyomas, lymphangioleiomyomatosis, and angiomyolipomas. Renal angiomyolipomas in particular can manifest with imaging features that mimic renal malignancy and pose a diagnostic dilemma. Other manifestations include dermatologic and ophthalmic manifestations, renal cysts, renal cell carcinomas, multifocal micronodular pneumocyte hyperplasia, splenic hamartomas, and other rare tumors such as perivascular epithelioid tumors. In addition to using imaging and clinical features to confirm the diagnosis, genetic testing can be performed. In this article, the molecular pathogenesis, clinical manifestations, and imaging features of TSC are reviewed. Current recommendations for management and surveillance of TSC are discussed as well. ©RSNA, 2021.

Second Malignancies after Radiation Therapy: Update on Pathogenesis and Cross-sectional Imaging Findings.

A wide spectrum of second cancers occur as late complications of radiation therapy (RT) used to treat various malignancies. In addition to the type and dose of radiation, lifestyle, environmental, and genetic factors are important to the development of second malignancies in cancer survivors. Typically, RT-induced malignancies (RTIMs) are biologically aggressive cancers with a variable period of 5-10 years for hematologic malignancies and 10-60 years for solid tumors between RT and the development of the second cancer. Although carcinomas and leukemias commonly develop after low-dose RT, sarcomas occur in tissues or organs that receive high-dose RT. Angiosarcomas and unclassified pleomorphic sarcomas are the two most common RT-associated sarcomas; other sarcomas include malignant peripheral nerve sheath tumors, leiomyosarcomas, osteosarcomas, chondrosarcomas, and dedifferentiated or pleomorphic liposarcomas. Select RTIMs show tumor genetic characteristics that allow accurate diagnosis. Nearly all cutaneous angiosarcomas after RT for breast cancer and 90% of RT-associated malignant peripheral nerve sheath tumors are characterized by MYC gene amplifications and loss of H3 K27me3 expression, respectively. Classic papillary thyroid carcinomas that develop after RT frequently harbor RET/PTC rearrangements and have a favorable prognosis, despite their advanced stage at patient presentation. Select RTIMs demonstrate characteristic imaging findings and typically develop in the prior radiation field. Imaging is essential to early diagnosis, characterization, localization, and staging of RTIMs. Familiarity of radiologists with the diverse spectrum of RTIMs is essential for early diagnosis and optimal management. An invited commentary by Shapiro is available online. ©RSNA, 2021.

Pancreas in Hereditary Syndromes: Cross-sectional Imaging Spectrum.

A wide spectrum of hereditary syndromes predispose patients to distinct pancreatic abnormalities, including cystic lesions, recurrent pancreatitis, ductal adenocarcinoma, nonductal neoplasms, and parenchymal iron deposition. While pancreatic exocrine insufficiency and recurrent pancreatitis are common manifestations in cystic fibrosis and hereditary pancreatitis, pancreatic cysts are seen in von Hippel-Lindau disease, cystic fibrosis, autosomal dominant polycystic kidney disease, and McCune-Albright syndrome. Ductal adenocarcinoma can be seen in many syndromes, including Peutz-Jeghers syndrome, familial atypical multiple mole melanoma syndrome, Lynch syndrome, hereditary breast and ovarian cancer syndrome, Li-Fraumeni syndrome, and familial pancreatic cancer syndrome. Neuroendocrine tumors are commonly seen in multiple endocrine neoplasia type 1 syndrome and von Hippel-Lindau disease. Pancreatoblastoma is an essential component of Beckwith-Wiedemann syndrome. Primary hemochromatosis is characterized by pancreatic iron deposition. Pancreatic pathologic conditions associated with genetic syndromes exhibit characteristic imaging findings. Imaging plays a pivotal role in early detection of these conditions and can positively affect the clinical outcomes of those at risk for pancreatic malignancies. Awareness of the characteristic imaging features, imaging-based screening protocols, and surveillance guidelines is crucial for radiologists to guide appropriate patient management. ©RSNA, 2021.

A Review of Viral-Related Malignancies and the Associated Imaging Findings.

OBJECTIVE. Imaging plays an important role in the diagnosis and staging of malignancies. Many common lymphoproliferative and other solid tumor malignancies can be viral-related. CONCLUSION. This review discusses the imaging findings that can be associated with common viral-induced malignancies. Knowledge of these imaging presentations can help narrow the differential diagnosis to reach a specific diagnosis through a precise workup and proper management.

Decoding Genes: Current Update on Radiogenomics of Select Abdominal Malignancies.

Technologic advances in chromosomal analysis and DNA sequencing have enabled genome-wide analysis of cancer cells, yielding considerable data on the genetic basis of malignancies. Evolving knowledge of tumor genetics and oncologic pathways has led to a better understanding of histopathologic features, tumor classification, tumor biologic characteristics, and imaging findings and discovery of targeted therapeutic agents. Radiogenomics is a rapidly evolving field of imaging research aimed at correlating imaging features with gene mutations and gene expression patterns, and it may provide surrogate imaging biomarkers that may supplant genetic tests and be used to predict treatment response and prognosis and guide personalized treatment options. Multidetector CT, multiparametric MRI, and PET with use of multiple radiotracers are some of the imaging techniques commonly used to assess radiogenomic associations. Select abdominal malignancies demonstrate characteristic imaging features that correspond to gene mutations. Recent advances have enabled us to understand the genetics of steatotic and nonsteatotic hepatocellular adenomas, a plethora of morphologic-molecular subtypes of hepatic malignancies, a variety of clear cell and non-clear cell renal cell carcinomas, a myriad of hereditary and sporadic exocrine and neuroendocrine tumors of the pancreas, and the development of targeted therapeutic agents for gastrointestinal stromal tumors based on characteristic KIT gene mutations. Mutations associated with aggressive phenotypes of these malignancies can sometimes be predicted on the basis of their imaging characteristics. Radiologists should be familiar with the genetics and pathogenesis of common cancers that have associated imaging biomarkers, which can help them be integral members of the cancer management team and guide clinicians and pathologists. Online supplemental material is available for this article. ©RSNA, 2020 See discussion on this article by Luna (pp 1627-1630).

Pancreatic Neuroendocrine Neoplasms: 2020 Update on Pathologic and Imaging Findings and Classification.

Pancreatic neuroendocrine neoplasms (panNENs) are heterogeneous neoplasms with neuroendocrine differentiation that show characteristic clinical, histomorphologic, and prognostic features; genetic alterations; and biologic behavior. Up to 10% of panNENs develop in patients with syndromes that predispose them to cancer, such as multiple endocrine neoplasia type 1, von Hippel-Lindau disease, tuberous sclerosis complex, neurofibromatosis type 1, and glucagon cell adenomatosis. PanNENs are classified as either functioning tumors, which manifest early because of clinical symptoms related to increased hormone production, or nonfunctioning tumors, which often manifest late because of mass effect. PanNENs are histopathologically classified as well-differentiated pancreatic neuroendocrine tumors (panNETs) or poorly differentiated pancreatic neuroendocrine carcinomas (panNECs) according to the 2010 World Health Organization (WHO) classification system. Recent advances in cytogenetics and molecular biology have shown substantial heterogeneity in panNECs, and a new tumor subtype, well-differentiated, high-grade panNET, has been introduced. High-grade panNETs and panNECs are two distinct entities with different pathogenesis, clinical features, imaging findings, treatment options, and prognoses. The 2017 WHO classification system and the eighth edition of the American Joint Committee on Cancer staging system include substantial changes. Multidetector CT, MRI, and endoscopic US help in anatomic localization of the primary tumor, local-regional spread, and metastases. Somatostatin receptor scintigraphy and fluorine 18-fluorodeoxyglucose PET/CT are helpful for functional and metabolic assessment. Knowledge of recent updates in the pathogenesis, classification, and staging of panNENs and familiarity with their imaging findings allow optimal patient treatment. ©RSNA, 2020.

Unusual Imaging Findings Associated with Germ Cell Tumors.

Germ cell tumors, because they contain immature and mature elements, can differentiate into different tissue types. They can exhibit unusual imaging features or manifest in a syndromic fashion. The authors describe these features and assign them to one of the following categories: (a) unusual manifestations of metastatic disease (growing teratoma syndrome, choriocarcinoma syndrome, ossified metastases, and gliomatosis peritonei); (b) autoimmune manifestations (sarcoidlike reaction and paraneoplastic syndromes); (c) endocrine syndromes (sex hormone production, struma ovarii, and struma carcinoid); or (d) miscellaneous conditions (ruptured dermoid cyst, squamous cell carcinoma arising from a mature teratoma, Currarino triad, fetus in fetu, pseudo-Meigs syndrome, and pancreatitis). Rare conditions associated with germ cell tumors demonstrate characteristic imaging findings that can help lead to the appropriate diagnosis and management recommendations. When evaluating for potential metastatic disease, alternative benign diagnoses should be considered (eg, growing teratoma syndrome, ossified metastases, ruptured dermoid cyst, gliomatosis peritonei, and sarcoidlike reaction), which may impact management. Germ cell tumors may also lead to life-threatening complications such as extensive hemorrhage from choriocarcinoma metastases or the rupture of mature teratomas, cases in which timely diagnosis is crucial. Autoimmune and endocrine manifestations such as paraneoplastic encephalitis, autoimmune hemolytic anemia, and hyperthyroidism may occur owing to the presence of germ cell tumors and can create a diagnostic dilemma for clinicians. Knowledge of the syndromic and unusual imaging findings associated with germ cell tumors helps guide appropriate management. ©RSNA, 2019.

Radiologist's Primer on Imaging of Common Hereditary Cancer Syndromes.

Recent advances in pathology and genetics have improved our understanding of the pathogenesis of inherited and sporadic malignancies. Detailed studies of hereditary cancer syndromes-which contribute to 5%-10% of the overall cancer burden-have shed new light on the important role of genetic abnormalities in tumor metabolism, oncologic pathways, and clinicobiologic behavior. Many inherited cancer syndromes are characterized by development of pathognomonic histotypes of neoplasms in specific target organs. Cross-sectional imaging plays an integral role in diagnosis, screening, surveillance, and treatment of patients with a wide spectrum of cancer syndromes. This article focuses on the imaging spectrum of select hereditary cancer syndromes, featuring imaging features of associated common and uncommon tumors and conditions in each syndrome, along with screening and surveillance recommendations for each condition. MRI has proved to be a useful screening modality in such patients, as these patients are often young and require prolonged screening; MRI has the added advantage of better soft-tissue contrast without ionizing radiation. The whole-body MRI protocol is also briefly discussed. The radiologist is sometimes the first physician to encounter such patients, and knowledge of these syndromes can help identify these patients earlier and impact their care by timely diagnosis and intervention. This also benefits the family members, as they can also undergo genetic testing and obtain an early diagnosis and screening. ©RSNA, 2019.

Hereditary Gastrointestinal Cancer Syndromes: Role of Imaging in Screening, Diagnosis, and Management.

Hereditary gastrointestinal (GI) cancer syndromes due to specific germline mutations are characterized by an increased risk of GI tract malignancies, extra-GI tract cancers, and benign abnormalities. These syndromes include Lynch syndrome, familial adenomatous polyposis, juvenile polyposis syndrome, Peutz-Jeghers syndrome, Cowden syndrome, hereditary diffuse gastric cancer, and hereditary pancreatic cancer. Timely identification of the responsible genes will help predict future cancer risks in these patients and their family members. Early detection of cancers is possible with appropriate screening methods; risk-reducing measures will help in cancer prevention. Select malignancies and benign conditions associated with these syndromes have distinctive imaging features that can aid in classifying the syndromes. Imaging also plays a pivotal role in screening and surveillance of patients as well as their at-risk relatives and is invaluable for follow-up of treated malignancies. The American College of Gastroenterology has established specific guidelines for diagnosis and management of hereditary GI cancer syndromes. Knowledge of the imaging features of various pathologic conditions and screening strategies will guide appropriate management of patients and at-risk family members. ©RSNA, 2019.