Citations

Abstract Introduction Mediastinal masses may exhibit various clinical and pathological features. Posterior mediastinal lesions are often neurogenic, followed by lymphadenopathy, extramedullary hematopoiesis, paraspinal abscess, and rarely, foregut duplication cysts (prevalence: 0.122%). Given the rarity and diagnostic challenges, these masses are often biopsied, though may not be ideal. We present a case of esophageal duplication cyst (EDC). Case presentation A 33-year-old woman with mild intermittent asthma, had initially presented to an outside facility for chronic productive cough, episodic chest tightness and dyspnea both at rest and with exertion, inspiratory and expiratory wheezes. Despite multiple courses of prednisone for presumed asthma exacerbation, her symptoms persisted. An initial Computer Tomography (CT) Chest demonstrated a 5 x 4 x 3 cm mass within the visceral mediastinum. Bronchoscopy with endobronchial ultrasound and transbronchial needle aspiration of the mediastinal lymph nodes was nondiagnostic, showing scant lymphocytes and abundant mucin. Broad autoimmune, connective tissue disease, and infectious disease workups were negative, prompting referral to our facility. Physical exam and labs were unremarkable and pulmonary function testing showed no evidence of small airway obstruction. A High-Resolution CT Chest revealed a 3.1 x 3.7 x 4.5 cm noncalcified, well-circumscribed mass soft tissue density, adjacent to the esophagus with elevated Hounsfield units close to esophagus. Ultimately duplication cyst was suspected and Magnetic Resonance Imaging (MRI) with contrast showed high T1 and T2 signal within the lesion and no enhancement after contrast, deemed compatible with proteinaceous/hemorrhagic cyst (Figure 1 A-D). Biopsy was deferred given diagnostic MRI characteristics, and risk of secondary infection. The diagnosis of EDC was confirmed via multidisciplinary thoracic tumor board revision. Ultimately, she was referred for surgical resection. Discussion The incidence of EDC is 1 in 8,200, with a two-fold male prevalence over women. These patients may present with dysphagia, cough, stridor, pain, or arrhythmia since childhood, or may be entirely asymptomatic. EDCs can develop along the esophagus, with 90% lacking communication with the esophageal lumen. Although posterior mediastinal mass typically require biopsy to exclude malignancy, tissue biopsy should be avoided in cases with suspected duplication cyst given risk of infection, abscess formation and mediastinitis. Transesophageal endoscopic ultrasonography could further characterize the cyst, however MRI is considered the gold standard diagnostic modality. Conclusion MRI is the gold standard diagnostic modality of EDC. Biopsy should be avoided given the risk of infection. Clinicians should consider a broad differential for posterior mediastinal mass and avoid unnecessary invasive testing.

Abstract Introduction Lung involvement is common in ANCA-associated vasculitis (AAV), presenting in various forms: necrotizing granulomatous inflammation, tracheobronchial inflammation, pulmonary capillaritis and diffuse alveolar hemorrhage (DAH), interstitial lung disease (ILD), and asthma.1 Radiologic manifestations are diverse, often complicating diagnosis based on imaging alone. Typical patterns include lung nodules, cavitation, pulmonary hemorrhage, and peripheral consolidation; however, cystic-like lesions are rarely seen.2 We present a case of AAV with bilateral cystic-like lung lesions. Case presentation A 54-year-old male with childhood asthma initially presented to an outside hospital due to progressive exertional dyspnea for 6 years and dysphonia for 1 year. Initial computer tomography (CT) revealed pulmonary cysts (Figure 1), and a CT-guided biopsy of a right upper lobe cystic lesion revealed intra-alveolar hemorrhage, though pathology was non-diagnostic. He received a diagnosis of congenital cystic lung disease and prescribed Trelegy and fluticasone inhalers. He was instructed to take oral prednisone with taper whenever dyspnea recurs for presumed asthma exacerbation. His exertional dyspnea indeed respond to prednisone but not to inhalers, and it would recur a few weeks later, and his dysphonia persisted. He came to our facility for second opinion given being told lung transplantation is the only ultimate treatment in his case. Additional history revealed chronic ear infection, bilateral rupturesd tympanic membrane, chronic rhinosinusitis, and recurrent nasolacrimal duct infection. He had been on oral prednisone for 4 weeks and remained on 10mg daily. Physical exam noted inspiratory wheezing. Further workups were notable for normal eospinophils, normal renal function, positive C-ANCA and PR3, normal pulmonary function test. High-resolution CT deomnstrated numerous areas of parenchymal lucency with circumferential surrounding groundglass opacity (GGO). At this point, the diagnosis of PR3-AAV is made. Patient is subsequently referred to rheumatology for further management. Discussion The diagnosis of AAV relies on clinical, serologic, radiologic, and pathologic data. The atypical presentation may delay diagnosis, especially in cases limited to ear, nose, and throat involvement and the radiological findings are of low specificity.3 While cystic lesions in AAV-related interstitial pneumonia are documented4, this case lacked a defined cyst wall. The central lucency may present partially destroyed lung parenchyma due to GPA-related necrosis (emphysema or pneumatocele) with surrounding areas of blood products deposited from prior peri-lesional hemorrhage. Clinicians should consider a broad differentials when encounter a cystic-like lesion with thorough history-taking being essential.

Abstract Introduction Unilateral pulmonary vein atresia (UPVA) is a rare congenital anomaly involving absent or obstructed pulmonary veins (PV), often leading to chronic pulmonary venous stasis, recurrent infections, and hemoptysis. Although typically diagnosed in infancy, UPVA can present in adulthood. This report presents a 63-year-old male referred as a case of chronic thromboembolic pulmonary disease (CTEPD) who was diagnosed with UPVA. We describe the diagnostic complexities and potential explanation for loss of pulmonary artery (PA) perfusion in such cases. Case Presentation A 63-year-old man was referred to rule out CTEPD. His past medical history included coronary artery disease and sleep apnea. He presented with chronic cough, repeated hemoptysis, recurrent pneumonias requiring prolonged antibiotics use, and progressive exertional dyspnea. Physical examination was unremarkable. Pulmonary function tests showed moderate restriction and moderately-reduced diffusion capacity. A ventilation-perfusion (V/Q) scan revealed complete absence of perfusion in the left lung. [figure1] High-resolution CT revealed a straight left atrial border sign with absent left superior and inferior PVs, left pulmonary arterial tree hypoplasia, hypoplastic left lung with fibrotic changes due to chronic venous-lymphatic engorgement and pulmonary hypoperfusion. CT also showed compensatory right lung hyperinflation and bronchial artery collaterals. Echocardiography indicated an atrial septal defect (ASD) with no pulmonary vascular disease. Based on CT angiography, UPVA was considered the leading diagnosis. Discussion UPVA is a congenital disease rarely presenting in adulthood with recurrent infections, hemoptysis, and fibrosis. It often accompanies congenital cardiac conditions, like ASD in our case. Pulmonary angiography may reveal ipsilateral PA hypoplasia and atrophied peripheral vessels. The absence of perfusion in the V/Q scan could be explained by reversed blood flow in the PA from congestion caused by the atretic PVs and ipsilateral backflow from the bronchial arteries collaterals. Differential diagnosis like CTEPD was excluded due to atypical complete loss of perfusion of the left lung, and lack of the other radiological stigmata. Swyer-James-MacLeod syndrome was excluded due to a mismatched perfusion defect. Proximal Interruption of the PA was also excluded due to normally developed proximal left and right PAs. Imaging is crucial in showing absent PVs and hypoplastic ipsilateral lung. Conservative management for UPVA is recommended. Given recurrent infections and hemoptysis, pneumonectomy can be considered. Conclusion This case illustrates the atypical presentation of UPVA as a CTEPD mimicker, presenting with absent pulmonary perfusion unilaterally, which can be explained by reversed pulmonary flow secondary to venous engorgement and backflow from bronchial artery collaterals. Figure1:

Abstract Background: Prior research on the associations of p16, COX-2, and Ki67 immunopositivity in ductal carcinoma in situ (DCIS) tissue with the risk of subsequent ipsilateral invasive breast cancer (IBC) is limited. Methods: In a case–control study nested in a cohort of women diagnosed with DCIS, immunostaining for p16, COX-2, and Ki67 was performed on DCIS tissue from those who developed subsequent ipsilateral IBC (cases; n = 146) and on matched subjects who did not develop IBC (controls; n = 273). Conditional logistic regression was used to estimate ORs and 95% confidence intervals for the associations between immunopositivity for p16, COX-2, and Ki67 and the risk of subsequent ipsilateral IBC. Results: There was no association between p16, COX-2, and Ki67 immunopositivity, examined either individually or in combination, and a risk of ipsilateral IBC. Compared with all other groups, the multivariable OR (95% confidence interval) for women who were triple positive for the three markers was 1.16 (0.38–3.54). Conclusions: p16, COX-2, and Ki67 immunopositivity was not associated with altered risk of ipsilateral IBC in women with DCIS. Impact: p16, COX-2, and Ki67 may not be prognostic for ipsilateral IBC in women with DCIS.

Mixed invasive ductal and lobular carcinoma (MDLC) is a rare histologic subtype of breast cancer displaying both E-cadherin positive ductal and E-cadherin negative lobular morphologies within the same tumor, posing challenges with regard to anticipated clinical management. It remains unclear whether these distinct morphologies also have distinct biology and risk of recurrence. Our spatially resolved transcriptomic, genomic, and single-cell profiling revealed clinically significant differences between ductal and lobular tumor regions including distinct intrinsic subtype heterogeneity – e.g., MDLC with triple-negative breast cancer (TNBC) or basal ductal and estrogen receptor positive (ER+) luminal lobular regions, distinct enrichment of cell cycle arrest/senescence and oncogenic (ER and MYC ) signatures, genetic and epigenetic CDH1 inactivation in lobular but not ductal regions, and single-cell ductal and lobular subpopulations with unique oncogenic signatures further highlighting intraregional heterogeneity. Altogether, we demonstrated that the intratumoral morphological/histological heterogeneity within MDLC is underpinned by intrinsic subtype and oncogenic heterogeneity which may result in prognostic uncertainty and therapeutic dilemma.

ImportanceLip, oral, and pharyngeal cancers are important contributors to cancer burden worldwide, and a comprehensive evaluation of their burden globally, regionally, and nationally is crucial for effective policy planning.ObjectiveTo analyze the total and risk-attributable burden of lip and oral cavity cancer (LOC) and other pharyngeal cancer (OPC) for 204 countries and territories and by Socio-demographic Index (SDI) using 2019 Global Burden of Diseases, Injuries, and Risk Factors (GBD) Study estimates.Evidence ReviewThe incidence, mortality, and disability-adjusted life years (DALYs) due to LOC and OPC from 1990 to 2019 were estimated using GBD 2019 methods. The GBD 2019 comparative risk assessment framework was used to estimate the proportion of deaths and DALYs for LOC and OPC attributable to smoking, tobacco, and alcohol consumption in 2019.FindingsIn 2019, 370 000 (95% uncertainty interval [UI], 338 000-401 000) cases and 199 000 (95% UI, 181 000-217 000) deaths for LOC and 167 000 (95% UI, 153 000-180 000) cases and 114 000 (95% UI, 103 000-126 000) deaths for OPC were estimated to occur globally, contributing 5.5 million (95% UI, 5.0-6.0 million) and 3.2 million (95% UI, 2.9-3.6 million) DALYs, respectively. From 1990 to 2019, low-middle and low SDI regions consistently showed the highest age-standardized mortality rates due to LOC and OPC, while the high SDI strata exhibited age-standardized incidence rates decreasing for LOC and increasing for OPC. Globally in 2019, smoking had the greatest contribution to risk-attributable OPC deaths for both sexes (55.8% [95% UI, 49.2%-62.0%] of all OPC deaths in male individuals and 17.4% [95% UI, 13.8%-21.2%] of all OPC deaths in female individuals). Smoking and alcohol both contributed to substantial LOC deaths globally among male individuals (42.3% [95% UI, 35.2%-48.6%] and 40.2% [95% UI, 33.3%-46.8%] of all risk-attributable cancer deaths, respectively), while chewing tobacco contributed to the greatest attributable LOC deaths among female individuals (27.6% [95% UI, 21.5%-33.8%]), driven by high risk-attributable burden in South and Southeast Asia.Conclusions and RelevanceIn this systematic analysis, disparities in LOC and OPC burden existed across the SDI spectrum, and a considerable percentage of burden was attributable to tobacco and alcohol use. These estimates can contribute to an understanding of the distribution and disparities in LOC and OPC burden globally and support cancer control planning efforts.

COVID-19 infection has been a global health issue in the past recent years and numerous topics are studied in order to discover its pathophysiology and potential side effects. The potential for disease recurrence following the administration of the COVID-19 vaccine is one of the issues that has recently attracted attention. Several studies have revealed that the COVID-19 vaccines, like other vaccines, may have side effects and, in some cases, they may even deteriorate the underlying illnesses, such as rheumatic diseases, autoimmune diseases, and cancers. The effectiveness and safety of the COVID-19 vaccine for patients with malignancies are one of the factors that are considered regarding this vaccine. Lymph node involvement, disease recurrence, and potential paraclinical changes after receiving the COVID-19 vaccine are some of the concerns of patients with malignancy. In this mini-review, we attempted to investigate cases of cancer recurrence or recovery as well as lymphadenopathy following vaccination.