Li-Fraumeni Syndrome: Imaging Features and Guidelines.

Li-Fraumeni syndrome (LFS) is a rare autosomal dominant familial cancer syndrome caused by germline mutations of the tumor protein p53 gene (TP53), which encodes the p53 transcription factor, also known as the "guardian of the genome." The most common types of cancer found in families with LFS include sarcomas, leukemia, breast malignancies, brain tumors, and adrenocortical cancers. Osteosarcoma and rhabdomyosarcoma are the most common sarcomas. Patients with LFS are at increased risk of developing early-onset gastric and colon cancers. They are also at increased risk for several other cancers involving the thyroid, lungs, ovaries, and skin. The lifetime risk of cancer in individuals with LFS is greater than 70% in males and greater than 90% in females. Some patients with LFS develop multiple primary cancers during their lifetime, and guidelines have been established for screening these patients. Whole-body MRI is the preferred modality for annual screening of these patients. The management guidelines for patients with LFS vary, as these individuals are more susceptible to developing radiation-induced cancers-for example, women with LFS and breast cancer are treated with total mastectomy instead of lumpectomy with radiation to the breast. The authors review the role of imaging, imaging guidelines, and imaging features of tumors in the setting of LFS. ©RSNA, 2024 Supplemental material is available for this article.

Disorders with Ophthalmic and Thoracic Involvement.

A variety of systemic conditions involve the thorax and the eyes. While subtle or nonspecific eye symptoms can be the initial clinical manifestation of some disorders, there can be additional manifestations in the thorax that lead to a specific diagnosis and affect patient outcomes. For instance, the initial clinical manifestation of Sjögren syndrome is dry eye or xerophthalmia; however, the presence of Sjögren lung disease represents a fourfold increase in mortality. Likewise, patients with acute sarcoidosis can initially present with pain and redness of the eye from uveitis in addition to fever and parotitis. Nearly 90% of patients with sarcoidosis have thoracic involvement, and the ophthalmologic symptoms can precede the thoracic symptoms by several years in some cases. Furthermore, a diagnosis made in one system can result in the screening of other organs as well as prompt genetic evaluation and examination of family members, such as in the setting of Marfan syndrome or Ehlers-Danlos syndrome. Multimodality imaging, particularly CT and MRI, plays a vital role in identification and characterization of these conditions. While it is helpful for ophthalmologists to be knowledgeable about these conditions and their associations so that they can order the pertinent radiologic studies, it is also important for radiologists to use the clues from ophthalmologic examination in addition to imaging findings to suggest a specific diagnosis. Systemic conditions with thoracic and ophthalmologic manifestations can be categorized as infectious, inflammatory, autoimmune, neoplastic, or hereditary in origin. The authors describe a spectrum of these conditions based on their underlying cause. ©RSNA, 2024.

Cardiothoracic complications of immune checkpoint inhibitors.

A paradigm shift in cancer treatment occurred with the advent of immune checkpoint inhibitors (ICI). ICI therapy has improved tumor response and increased overall survival in patients with solid tumors and hematologic malignancies. While ICI therapy has improved overall patient outcomes in oncology, it has also introduced novel adverse effects called immune-related adverse effects (irAEs). Studies have shown that the development of irAEs is associated with improved overall survival, but certain irAEs like pneumonitis and myocarditis are life threatening, and could result in death if not identified and treated early. Therefore, it is important for radiologists to be aware of complications arising from ICI administration, especially those related to the heart and lungs as they are associated with greater mortality. This paper will review the imaging features of cardiothoracic toxicities, recurrent and chronic irAEs, and atypical tumor responses associated with irAEs.

Lung cancer with air lucency: a systematic review and clinical management guide.

Background: Lung cancers with air lucency are poorly understood, often recognized only after substantial progression. Methods: From a systematic review (PubMed and EMBASE, 2000-2022, terms related to cystic, cavitary, bulla, pseudocavitary, bubble-like, date 10-30-2022) 49 studies were selected using broad inclusion criteria (case series of ≥10 cases up to trials and reviews). There was no source of funding. Primary evidence relevant to clinical management issues was assembled. Because data was available only from heterogeneous retrospective case series, meta-analysis and formal risk-of-bias assessment was omitted. A framework was developed to guide clinical management based on the available data. Results: Demographic, smoking and histologic differences suggest that cystic, cavitary and bullous lung cancers with air lucency may be distinct entities; insufficient data leaves it unclear whether this also applies to pseudocavitary (solid) or bubble-like (ground glass) cancers. Annual observation of irregular thin-walled cysts is warranted; a surgical diagnosis (and resection) is justified once a solid component appears because subsequent progression is often rapid with markedly worse outcomes. Bubble-like ground glass lesions should be managed similarly. Cavitary lesions must be distinguished from infection or vasculitis, but generally require needle or surgical biopsy. Pseudocavitary lesions are less well studied; positron emission tomography may be useful in this setting to differentiate scar from malignancy. Further research is needed because these conclusions are based on interpretation of retrospective case series. Conclusions: The aggregate of available evidence suggests a framework for management of suspected lung cancers with air lucency. Greater awareness, earlier detection, and aggressive management once a solid component appears are needed. This review and framework should facilitate further research; questions include whether the suggested entities and proposed management are borne out and should involve clearly defined terms and outcomes related to progression and treatment. In summary, a conceptual understanding is emerging from interpretation of available data about a previously poorly understood topic; this should improve patient outcomes.

Imaging in the Intensive Care Unit.

Radiology plays an important role in the management of the most seriously ill patients in the hospital. Over the years, continued advances in imaging technology have contributed to an improvement in patient care. However, even with such advances, the portable chest radiograph (CXR) remains one of the most commonly requested radiographic examinations. While they provide valuable information, CXRs remain relatively insensitive at revealing abnormalities and are often nonspecific. Chest computed tomography (CT) can display findings that are occult on CXR and is particularly useful at identifying and characterizing pleural effusions, detecting barotrauma including small pneumothoraces, distinguishing pneumonia from atelectasis, and revealing unsuspected or additional abnormalities which could result in increased morbidity and mortality if left untreated. CT pulmonary angiography is the modality of choice in the evaluation of pulmonary emboli which can complicate the hospital course of the ICU patient. This article will provide guidance for interpretation of CXR and thoracic CT images, discuss some of the invasive devices routinely used, and review the radiologic manifestations of common pathologic disease states encountered in ICU patients. In addition, imaging findings and complications of more specific clinical scenarios in which the incidence has increased in the ICU setting, such as patients who are immunocompromised, have interstitial lung disease, or COVID-19, will also be discussed. Communication between the radiologist and intensivist, particularly on complicated cases, is important to help increase diagnostic accuracy and leads to an improvement in the management of the most critically ill patients.

Diseases of the pulmonary arteries: imaging appearances and pearls.

A wide spectrum of pathology, both congenital and acquired, can affect the pulmonary arteries. While some of these are commonly seen in everyday clinical practice, some are rare. These entities may be discovered incidentally at imaging for other reasons in an asymptomatic patient, however patients may go on to develop symptoms over the course of their lifetime. Although an enlarged pulmonary artery can be visualized on chest X-ray (CXR), for the most part, CXR is insensitive for detecting abnormalities of the pulmonary arteries. Contrast-enhanced chest CT (CECT) is a better test to evaluate the pulmonary arteries as it is readily available, quick to perform, able to provide multiplanar reformatted images, and noninvasive. CECT is not only able to assess the lumen and wall of the pulmonary artery, but also provides a detailed evaluation of the entire thorax, including the heart, mediastinal structures, and lungs, often times picking up associated findings, and is the mainstay for evaluating disorders of the pulmonary vasculature. MRI allows for detailed evaluation of the vessel wall which can be especially helpful in cases where malignancy or vasculitis are suspected, and is also able to provide useful physiologic data such as quantification of flow. It is important for the radiologist to be aware of the many conditions which affect the pulmonary arteries, as some may require urgent treatment. This article will review normal pulmonary artery anatomy and physiology, as well as the various imaging findings of pulmonary vascular pathologies.

COVID-19 ARDS: a review of imaging features and overview of mechanical ventilation and its complications.

The first cluster of cases of COVID-19 pneumonia was reported on December 31, 2019. Since then, this disease has spread rapidly across the world, and as of September 17, 2021, there are 226,844,344 cases of COVID-19 worldwide with 4,666,334 deaths related to COVID-19. While most COVID-19 cases are mild, some cases are severe with patients developing acute respiratory distress syndrome (ARDS). The pathophysiology of ARDS includes damage to the alveolar epithelium that leads to increased permeability of the alveolar epithelial barrier causing hyaline membrane formation, interstitial edema, and alveolar edema that results in severe hypoxia. Patients with COVID-19 ARDS are supported by non-invasive or invasive mechanical ventilation with an aim to improve oxygenation and maintain adequate blood oxygen levels. Increased intra-alveolar pressure while on mechanical ventilation may lead to alveolar rupture and thus barotrauma-related injuries such as lung tension cysts, pulmonary interstitial emphysema (PIE), pneumomediastinum, pneumopericardium, and pneumothorax. Recent studies have shown that the rate of barotrauma-related events is higher in patients with COVID-19 ARDS compared to patients with ARDS secondary to other etiologies. Radiologists should be aware of the imaging features of COVID-19 ARDS as well as the complications of mechanical ventilation. This educational manuscript will review the features of COVID-19 ARDS, discuss imaging of patients on mechanical ventilation, and review the imaging features of complications related to mechanical ventilation, including ventilator-associated lung injuries.

Imaging in the Evaluation of Chest Pain in the Primary Care Setting, Part 1: Cardiovascular Etiologies.

Chest pain is a common presenting complaint in the primary care setting. Imaging plays a key role in the evaluation of the multiple organ systems that can be responsible for chest pain. With numerous imaging modalities available, determination of the most appropriate test and interpretation of the findings can be a challenge for the clinician. In this 2-part series, we offer resources to guide primary care physicians in the selection of imaging studies and present the imaging findings of various causes of nonemergent chest pain. In Part 1, we focus on a discussion of the basic concepts of each imaging technique and the appearance of common cardiovascular etiologies of chest pain.

Imaging in the Evaluation of Chest Pain in the Primary Care Setting, Part 2: Sources of Noncardiac Chest Pain.

Chest pain is a common presenting complaint in the primary care setting. Imaging plays a key role in the evaluation of the multiple organ systems that can be responsible for chest pain. With numerous imaging modalities available, determination of the most appropriate test and interpretation of the findings can be a challenge for the clinician. In this 2-part series, we offer resources to guide primary care physicians in the selection of imaging studies and present the imaging findings of various causes of nonemergent chest pain. In Part 2, we focus on the radiologic appearance of common noncardiac sources of chest pain, including gastrointestinal, pulmonary, and musculoskeletal etiologies.

Social Distancing with Portable Chest Radiographs During the COVID-19 Pandemic: Assessment of Radiograph Technique and Image Quality Obtained at 6 Feet and Through Glass.

PURPOSE: To develop a technique that allows portable chest radiography to be performed through the glass door of a patient's room in the emergency department. MATERIALS AND METHODS: A retrospective review of 100 radiographs (50 [mean age 59.4 ± 17.3, range 22-87; 30 women] performed with the modified technique in April 2020, randomized with 50 [mean age 59 ± 21.6, range 19-100; 31 men] using the standard technique was completed by three thoracic radiologists to assess image quality. Radiation exposure estimates to patient and staff were calculated. A survey was created and sent to 32 x-ray technologists to assess their perceptions of the modified technique. Unpaired Ttests were used for numerical data. A P value < .05 was considered statistically significant. RESULTS: The entrance dose for a 50th percentile patient was the same between techniques, measuring 169 µGy. The measured technologist exposure from the modified technique assuming a 50th percentile patient and standing 6 feet to the side of the glass was 0.055 µGy, which was lower than standard technique technologist exposure of 0.088 µGy. Of the 100 portable chest radiographs evaluated by three reviewers, two reviewers rated all images as having diagnostic quality, while the other reviewer believed two of the standard images and one of the modified technique images were non-diagnostic. A total of 81% (26 of 32) of eligible technologists completed the survey. Results showed acceptance of the modified technique with the majority feeling safer and confirming conservation of PPE. Most technologists did not feel the modified technique was more difficult to perform. CONCLUSIONS: The studies acquired with the new technique remained diagnostic, patient radiation doses remained similar, and technologist dose exposure were decreased with modified positioning. Perceptions of the new modified technique by frontline staff were overwhelmingly positive.

Etiologies of bilateral pleural effusions.

BACKGROUND: To evaluate the safety, etiology and outcomes of patients undergoing bilateral thoracentesis. METHODS: This is a prospective cohort study of 100 consecutive patients who underwent bilateral thoracenteses in an academic medical center from July 2009 through November 2010. Pleural fluid characteristics and etiologies of the effusions were assessed. Mean differences in levels of fluid characteristics between right and left lungs were tested. Associations between fluid characteristics and occurrence of bilateral malignant effusions were evaluated. The rate of pneumothorax and other complications subsequent to bilateral thoracentesis was determined. RESULTS: Exudates were more common than transudates, and most effusions had multiple etiologies, with 83% having two or more etiologies. Bilateral malignant effusions occurred in 19 patients, were the most common single etiology of exudative effusions, and were associated with higher levels of protein and LDH in the pleural fluid. Among 200 thoracenteses performed with a bilateral procedure, seven resulted in pneumothoraces, three of which required chest tube drainage and four were ex vacuo. CONCLUSIONS: More often than not, there are multiple etiologies that contribute to pleural fluid formation, and of the combinations of etiologies observed congestive heart failure was the most frequent contributor. Exudative effusions are more common than transudates when bilateral effusions are present. Malignancy is a common etiology of exudative effusions. This study suggests that the overall complication rate following bilateral thoracentesis is low and the rate of pneumothorax subsequent to bilateral thoracentesis is comparable to unilateral thoracentesis.

Circulating monocytes from systemic sclerosis patients with interstitial lung disease show an enhanced profibrotic phenotype.

Profibrotic cells derived from circulating CD14+ monocytes include fibrocytes and alternatively activated macrophages. These cells are associated with interstitial lung disease (ILD) and are implicated in the pathogenesis of systemic sclerosis (SSc); however, the simultaneous presence of profibrotic cells and their associated mediators in the circulation of these patients has not been defined. We hypothesized that monocytes from patients with SSc-related ILD (SSc-ILD) would show profibrotic characteristics when compared with normal controls. We recruited patients with SSc-ILD (n=12) and normal controls (n=27) and quantified circulating collagen-producing cells by flow cytometry for CD45 and pro-collagen I. The in vitro activation potential of CD14+ monocytes in response to lipopolysaccharide was assessed using flow cytometry for CD163, and by ELISA for CCL18 and IL-10 secretion. Profibrotic mediators in plasma were quantified using Luminex-based assays. The concentration of circulating collagen-producing cells was increased in the SSc-ILD patients when compared with controls. These cells were composed of both CD34+ fibrocytes and a population of CD34+CD14+ cells. Cultured CD14+ monocytes from SSc-ILD patients revealed a profibrotic phenotype characterized by expression of CD163 and by enhanced secretion of CCL18 and IL-10 in response to proinflammatory activation. Plasma levels of IL-10, MCP-1, IL-1RA, and TNF levels were significantly elevated in the plasma of the SSc-ILD cohort. Subgroup analysis of the normal controls revealed that unlike the subjects < or =35 years, subjects > or =60 years old showed higher levels of circulating CD34+CD14+ cells, collagen-producing CD14+ monocytes, CD163+ monocytes, IL-4, IL-10, IL-13, MCP-1, and CCL18. These data indicate that the blood of patients with SSc-ILD and of healthy aged controls is enriched for fibrocytes, profibrotic monocytes, and fibrosis-associated mediators. Investigations defining the factors responsible for this peripheral blood profile may provide new insight into SSc-ILD as well as the pathophysiology of aging.