Presence Saint Joseph Hospital

e23543 Background: Alveolar soft part sarcoma (ASPS) is a rare subtype of soft tissue sarcoma, characterized by a specific unbalanced translocation leading to the fusion of the TFE3 gene on chromosome-X to the ASPSCR1 gene on chromosome-17. Despite its indolent course, ASPS presents a challenge in treatment due to its resistance to conventional anthracycline-based chemotherapy and lack of large scale trial data for this rare sarcoma. This review aimed to assess the efficacy of tyrosine kinase inhibitors (TKI) and immune checkpoint inhibitors (ICI) in metastatic alveolar soft part sarcoma. Methods: A systematic search was performed on Embase and Medline databases for studies that assessed best response of patients with unresectable or metastatic ASPS to TKI and ICI therapy, according to the Response Evaluation Criteria in Solid Tumors (RECIST) edition 1.0 or 1.1. This study followed the Preferred Reporting Items for Systematic Reviews (PRISMA) protocol. Four independent reviewers screened abstracts and extracted the data; any discrepancy was resolved by discussion among reviewers. Pooled objective response rate (ORR) and disease control rate (DCR) were obtained using the Freeman-Tukey double-arcsine transformation using random effects model on STATA software (version. 16.1, StataCorp). Results: 27 articles and abstracts published between 2011 and 2020 were included in the review, resulting in 2 randomized clinical trials (104 participants), 14 single arm prospective trials (214 participants), and 11 retrospective studies (120 patients). Among clinical trials, the pooled ORR and DCR were 18% (95% confidence interval [CI] 8 - 30%; I2 = 72.25%; p < 0.01) and 87% (95% CI 97 - 93%; I2 = 43.2%; p = 0.03) respectively. Conclusions: The response rate to targeted therapy in metastatic ASPS is not only clinically meaningful, but also comparable to that of first-line chemotherapy. The majority of patients receiving targeted therapy achieved disease control. Patients who had refractory or progressive disease to one targeted agent demonstrated response to other agents. More randomized trials are warranted to expand treatment options and compare to standard of care regimens.

Anomalous origin of right coronary artery (ARCA) arising from the left sinus of Valsalva (a congenital cardiac abnormality) and sinus of Valsalva aneurysm (SOVA) are rare and often have asymptomatic conditions. However, symptoms could range from chest pain, shortness of breath, palpitations, syncope to sudden cardiac death (SCD). The co-existence of these two anomalies (ARCA + SOVA) could lead to potential adverse outcomes in the absence of early intervention. The presence of these two conditions together increases the risk of SCD as reported in our case of a young male who presented to the emergency department with chest pain.

A 68-year-old man with no significant medical history was brought to the emergency department for an episode of syncope after exertion. He regained consciousness before arrival in the hospital. He reported some shortness of breath in the emergency room but denied any chest pain. In the emergency

Background: Screening for colonic neoplasia has decreased the incidence of colorectal cancer in the United States in the past two decades. Whether personal history of noncolorectal cancer is a risk factor for colonic neoplasia has not been well studied. We assessed the risk of colorectal neoplasia in noncolorectal cancer survivors.Methods: We conducted a retrospective study of patients who had undergone colonoscopy for any indication between 2009 and 2018. Colonic adenoma detection rate and multivariate logistic regression were conducted to assess for the primary outcomes of the study.Results: The study included 9408 cancer patients and 3295 control patients. Colonic adenomas were detected in 4503 cancer patients (48%) and 950 cancer-free patients (29%). Histologic examination of these adenomas revealed tubulovillous features in 620 patients (5%) and villous in 153 (1%). High-grade dysplasia was detected in 1611 patients (13%). Invasive colorectal adenocarcinoma was detected in 455 patients (12%); this rate was highest in patients with multiple myeloma (14%). Multivariate analysis revealed that a personal history of noncolorectal cancer was associated with increased risk of adenoma (Odd ratio, 2.04; 95% CI, 1.84-2.26; P<0.001). The adenoma detection rate was 30% in patients younger than 40 years (n=1211), 32% in patients between 41 and 50 years (n=812), 47% in patients between 51 and 60 years (n=2892), and 55% in patients older than 60 years (n=4493).Conclusions: The adenoma detection rate in patients with a personal history of noncolorectal cancer is higher than the reported rate of the general population and our control group.

INTRODUCTION: Metastatic melanoma of cutaneous origin is known to affect the GI tract. The jejunum and the ileum are commonly involved sites. Metastatic melanoma of uveal origin affecting the GI tract has been rarely reported. CASE DESCRIPTION/METHODS: A 46 year-old male with a diagnosis of right-sided ophthalmic uveal melanoma (diagnosed in 2007, treated with brachytherapy, with no evidence of recurrent disease) presented to Emergency Department with complaints of abdominal pain, nausea, and vomiting of 2 days. The CT scan of the abdomen showed a small bowel mass, measuring 4.3 × 4.6 × 6 cm causing intussusception. The patient underwent laparoscopic small bowel resection, and was found to have a jejunal mass causing intussusception. The mass was reported as malignant melanoma invading through the muscular wall into subserosal adipose tissue, and two lymph nodes were positive for metastatic melanoma. Next generation sequencing showed GNAQ and SF3B1 mutations, confirming metastatic uveal melanoma. The patient was initially started on a chemotherapy regimen and is now undergoing treatment with immunotherapy. DISCUSSION: Malignant melanoma of cutaneous origin has high metastatic potential. The GI tract is one of the most common sites of metastasis, among which the jejunum and the ileum are the most common sites. Most metastases go unrecognized or do not present clinically with gastrointestinal symptoms. Uveal melanoma does not contain recurrent BRAF or NRAS mutations, which are present in metastatic cutaneous disease. Common sites of metastasis of uveal melanoma include the liver, lung, soft tissue, and bone, whereas cutaneous melanoma metastasizes to the lung, soft tissue, and the GI tract. Cutaneous melanoma metastases to the GI tract have been reported multiple times in the literature, while uveal melanoma metastases to small bowel causing intussusception have rarely been reported. In our case, the patient had no evidence of disease for 11 years before he suddenly presented with GI symptoms. In patients with a history of uveal melanoma, metastatic melanoma should be considered when presenting with unusual GI symptoms.

PURPOSEImmune checkpoint inhibitor (ICI) therapy often is suspended because of immune-mediated diarrhea and colitis (IMDC). We examined the rate of and risk factors for IMDC recurrence after ICI resumption.METHODSThis retrospective multicenter study examined patients who resumed ICI therapy after improvement of IMDC between January 2010 and November 2018. Univariable and multivariable logistic regression analyses assessed the association of clinical covariates and IMDC recurrence.RESULTSOf the 167 patients in our analysis, 32 resumed an anti–cytotoxic T-cell lymphocyte-4 (CTLA-4) agent, and 135 an anti–programmed cell death 1 or ligand 1 (PD-1/L1) agent. The median age was 60 years (interquartile range [IQR], 50-69 years). The median duration from IMDC to restart of ICI treatment was 49 days (IQR, 23-136 days). IMDC recurred in 57 patients (34%) overall (44% of those receiving an anti–CTLA-4 and 32% of those receiving an anti–PD-1/L1); 47 of these patients (82%) required immunosuppressive therapy for recurrent IMDC, and all required permanent discontinuation of ICI therapy. The median duration from ICI resumption to IMDC recurrence was 53 days (IQR, 22-138 days). On multivariable logistic regression, patients who received anti–PD-1/L1 therapy at initial IMDC had a higher risk of IMDC recurrence (odds ratio [OR], 3.45; 95% CI, 1.59 to 7.69; P = .002). Risk of IMDC recurrence was higher for patients who required immunosuppression for initial IMDC (OR, 3.22; 95% CI, 1.08 to 9.62; P = .019) or had a longer duration of IMDC symptoms in the initial episode (OR, 1.01; 95% CI, 1.00 to 1.03; P = .031). Risk of IMDC recurrence was lower after resumption of anti–PD-1/L1 therapy than after resumption of anti–CTLA-4 therapy (OR, 0.30; 95% CI, 0.11 to 0.81; P = .019).CONCLUSIONOne third of patients who resumed ICI treatment after IMDC experienced recurrent IMDC. Recurrence of IMDC was less frequent after resumption of anti–PD-1/L1 than after resumption of anti–CTLA-4.

Malignant cutaneous melanoma frequently metastasises to gastrointestinal tract, small bowel being the most common site likely due to its rich vascular supply. However, most common sites for metastatic uveal melanoma are the liver (93%), lung (24%), bone (16%), skin/subcutaneous tissue (11%) and lymph nodes (10%).1 We present a case of 46-year-old man with jejunojejunal intussusception secondary to metastatic uveal melanoma status postbrachytherapy after 11 years of remission. We aim to highlight the rare occurrence of adult intussusception secondary to uveal melanoma after a prolonged period of remission.