RESUMEN
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.
Asunto(s)
Síndrome de Inmunodeficiencia Adquirida , Enterocolitis Neutropénica , Enfermedades Gastrointestinales , Neoplasias Gastrointestinales , Infecciones por VIH , Sarcoma de Kaposi , Síndrome de Inmunodeficiencia Adquirida/complicaciones , Duodeno , Enterocolitis Neutropénica/complicaciones , Enfermedades Gastrointestinales/diagnóstico por imagen , Enfermedades Gastrointestinales/etiología , Neoplasias Gastrointestinales/patología , Infecciones por VIH/complicaciones , Humanos , Sarcoma de Kaposi/diagnóstico , Sarcoma de Kaposi/etiología , Sarcoma de Kaposi/patologíaRESUMEN
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.
Asunto(s)
Adenoma de Células Hepáticas , Neoplasias de los Conductos Biliares , Carcinoma Hepatocelular , Colangiocarcinoma , Neoplasias Hepáticas , Adenoma de Células Hepáticas/genética , Adenoma de Células Hepáticas/patología , Neoplasias de los Conductos Biliares/diagnóstico por imagen , Neoplasias de los Conductos Biliares/patología , Conductos Biliares Intrahepáticos/metabolismo , Conductos Biliares Intrahepáticos/patología , Carcinoma Hepatocelular/diagnóstico por imagen , Carcinoma Hepatocelular/metabolismo , Colangiocarcinoma/diagnóstico por imagen , Colangiocarcinoma/patología , Proteínas Hedgehog/metabolismo , Humanos , Neoplasias Hepáticas/diagnóstico por imagen , Neoplasias Hepáticas/patología , beta Catenina/genéticaRESUMEN
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.
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Leiomiosarcoma , Neoplasias Inducidas por Radiación , Neoplasias Primarias Secundarias , Sarcoma , Neoplasias de los Tejidos Blandos , Humanos , Neoplasias Inducidas por Radiación/etiología , Neoplasias Inducidas por Radiación/genética , Neoplasias Primarias Secundarias/etiología , Neoplasias Primarias Secundarias/genéticaRESUMEN
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).
Asunto(s)
Neoplasias Abdominales/diagnóstico por imagen , Neoplasias Abdominales/genética , Biomarcadores de Tumor/genética , Genes Relacionados con las Neoplasias/genética , Genómica/métodos , Predisposición Genética a la Enfermedad , Humanos , Mutación , FenotipoRESUMEN
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.
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Tumores Neuroendocrinos/diagnóstico por imagen , Tumores Neuroendocrinos/patología , Neoplasias Pancreáticas/diagnóstico por imagen , Neoplasias Pancreáticas/patología , Diagnóstico Diferencial , Humanos , Mutación , Clasificación del Tumor , Estadificación de Neoplasias , Tumores Neuroendocrinos/genética , Neoplasias Pancreáticas/genética , PronósticoRESUMEN
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.
Asunto(s)
Neoplasias Gastrointestinales/diagnóstico por imagen , Síndromes Neoplásicos Hereditarios/diagnóstico por imagen , Detección Precoz del Cáncer , Neoplasias Gastrointestinales/genética , Neoplasias Gastrointestinales/terapia , Predisposición Genética a la Enfermedad , Humanos , Tamizaje Masivo , Síndromes Neoplásicos Hereditarios/genética , Síndromes Neoplásicos Hereditarios/terapia , Guías de Práctica Clínica como AsuntoRESUMEN
Oncology patients can present with acute, life-threatening conditions that may arise either due to underlying malignancy or secondary to cancer therapy. Select oncologic emergencies show characteristic imaging findings on radiographs, ultrasound, computed tomography, and MRI that helps in timely diagnosis. Radiologists need to be aware of typical imaging findings in such patients in an emergency setting and should be able to guide the clinicians for proper patient management. Appropriate knowledge of the treatment and its timing is pivotal in diagnosing treatment-related complications.
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Urgencias Médicas , Neoplasias , Humanos , Abdomen/diagnóstico por imagen , Abdomen/patología , Tórax/diagnóstico por imagen , Pelvis/diagnóstico por imagen , Neoplasias/complicaciones , Neoplasias/diagnóstico por imagenRESUMEN
OBJECTIVE: The reconstruction of inferior vena cava (IVC) during radical nephrectomy and venous tumor thrombectomy (RN-VTT) is mostly performed with primary repair or with a patch/graft. We sought to systematically evaluate the outcomes of IVC patency over short- to intermediate-term follow-up for patients undergoing primary repair of IVC and to assess the association with survival. METHODS: A retrospective review of patients undergoing RN-VTT between January 2013 and August 2018 was conducted. Patients were followed until death, last available follow-up, or March 2022. The patency outcomes and IVC diameters were studied using follow-up cross-sectional imaging. The χ2 test, Student t test, and Kaplan-Meier survival analysis were used. RESULTS: Seventy-seven patients were included. The mean age was 59.2 ± 12.2 years and 45.4% had Mayo classification level III thrombus or higher. At a median follow-up of 36.5 months (13.3-60.7 months), the 3-year overall survival (OS) was 64%. Sixty patients underwent primary repair of the IVC and 48 of these patients were assessed for IVC patency. Ten patients (20.8%) developed caval occlusion, either from recurrent tumor (8.3%), new-onset bland thrombus (8.3%), or stenosis (4.2). The IVC patency seemed to be a significant predictor of OS (hazard ratio, 2.85; P = .021). Although the IVC diameters decreased significantly at the 3-month postoperative scan at the infrarenal (P = .019), renal (P < .001), and suprarenal (P < .001) levels, they did not decrease further on long-term follow-up imaging. CONCLUSIONS: IVC reconstruction with primary repair results in an overall patency rate of 80.2% with only a 4.0% rate of stenosis. Recurrence of tumor thrombus (8.3%) or bland thrombus (8.3%) are the predominant reasons for IVC occlusion after RN-VTT, and this outcome is associated with poor OS.
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Carcinoma de Células Renales , Neoplasias Renales , Trombosis , Humanos , Persona de Mediana Edad , Anciano , Neoplasias Renales/diagnóstico por imagen , Neoplasias Renales/cirugía , Carcinoma de Células Renales/diagnóstico por imagen , Carcinoma de Células Renales/cirugía , Vena Cava Inferior/diagnóstico por imagen , Vena Cava Inferior/cirugía , Vena Cava Inferior/patología , Constricción Patológica/cirugía , Recurrencia Local de Neoplasia/patología , Trombectomía/efectos adversos , Trombectomía/métodos , Trombosis/cirugía , Estudios Retrospectivos , Nefrectomía/efectos adversos , Nefrectomía/métodosRESUMEN
Hepatocellular carcinoma (HCC) is the most common primary malignant tumor of the liver and represents a significant global health burden. Management of HCC can be challenging due to multiple factors, including variable expectations for treatment outcomes. Several treatment options are available, each with specific eligibility and ineligibility criteria, and are provided by a multidisciplinary team of specialists. Radiologists should be aware of the types of treatment options available, as well as the criteria guiding the development of individualized treatment plans. This awareness enables radiologists to contribute effectively to patient-centered multidisciplinary tumor boards for HCC and play a central role in reassessing care plans when the treatment response is deemed inadequate. This comprehensive review aims to equip radiologists with an overview of HCC staging systems, treatment options, and eligibility criteria. The review also discusses the significance of imaging in HCC diagnosis, treatment planning, and monitoring treatment response. Furthermore, we highlight the crucial branch points in the treatment decision-making process that depend on radiological interpretation.
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Carcinoma Hepatocelular , Neoplasias Hepáticas , Humanos , Carcinoma Hepatocelular/diagnóstico por imagen , Carcinoma Hepatocelular/terapia , Neoplasias Hepáticas/diagnóstico por imagen , Neoplasias Hepáticas/terapia , Resultado del Tratamiento , RadiólogosRESUMEN
SAPHO (synovitis, acne, pustulosis, hyperostosis and osteitis) syndrome is a distinct clinical entity representing involvement of the musculoskeletal and dermatologic systems. It is well known to rheumatologists because of characteristic skin manifestations and polyarthropathy. However, few reports exist in the orthopaedic literature. It is important to be aware of sAPHO syndrome as it can mimic some of the more common disease entities such as infection, tumor, and other inflammatory arthropathies. Anterior chest wall pain centered at sternoclavicular and sternocostal joints is an important and characteristic clinical finding which can point to its diagnosis. A patient may undergo different diagnostic tests and invasive procedures such as biopsies before a diagnosis is made. Imaging can be helpful by offering a detailed evaluation of the abnormalities. More importantly it helps in revealing subclinical foci of involvement due to the polyostotic nature of the disease. The treatment is mostly nonsurgical. NSAIDS are the first line agents. However multiple new agents are being used for refractory cases. Surgery is reserved to treat complications.