Faculty Bibliography

Context:The disease course of adrenocortical carcinoma (ACC) patients is heterogeneous. A marker for prognosis and treatment response would facilitate choices for diagnosis and therapy. In other cancer types, circulating cell-free tumor DNA predicted tumor dynamics. Case Descriptions:The present pilot study included six patients. Next-generation sequencing (NGS) showed mutations in three ACC cases. From these patients, blood was drawn before (1 to 2 weeks) and after surgery and cell-free circulating DNA (cfDNA) was isolated. Tumor-specific mutations were found in the cfDNA of one of the three patients, with metastasized ACC at diagnosis. NGS of the tumor showed an NRAS mutation (c.182A>G:p.Q61R) in 78%, a TP53 mutation (c.856G>A:p.E286K) in 60%, and a TERT gene mutation (1295250C>T) in 28% of the reads. The preoperative cfDNA showed the same mutations at a frequency of 64%, 32%, and 2%, respectively. The postoperative cfDNA showed the same mutations but at lower frequencies (52%, 16%, and 3%, respectively). The patient was postoperatively treated with mitotane and chemotherapy. No mutations were detected in the corresponding leukocyte DNA or in the cfDNA from the two other patients. Conclusions:To the best of our knowledge, we report for the first time mutations occurring at high levels in cfDNA collected before and after surgery from one of three patients, after previous identification in the tumor. However, in the cfDNA from two patients with known mutations, we were unable to reliably detect mutations in the cfDNA. Our results indicate that mutation detection in cfDNA can vary among ACC patients, and other approaches might be required to detect the tumor response and monitor progressive disease.

This study examined whether depression and anxiety differentially relate to fatigue, sleep disturbance, pain catastrophizing, fear of movement, and pain severity in women with fibromyalgia. Baseline data from the Fibromyalgia Activity Study with Transcutaneous Electrical Nerve Stimulation were analyzed. Of 191 participants, 50 percent reported high anxiety and/or depression (17% high anxiety, 9% high depression, and 24% both). Fatigue and sleep impairment were associated with high depression ( p < 0.05). Pain severity, pain catastrophizing, and fear of movement were associated with high anxiety and high depression ( p < 0.05). Possible implications for underlying mechanisms and the need for targeted treatments are discussed.

Gastrointestinal stromal tumor (GIST) is a common nonepithelial benign neoplasm involving the GI tract, most commonly located in the stomach. Here, we describe a challenging case of GIST that presented with acute GI bleed and syncope. A 53 year-old male with no significant past medical history presented to the ER with loss of consciousness for several minutes earlier in the day. He arrived in New York three days prior to admission after a long day of travel from Iowa during which he began to experience general malaise, chills, and had poor intake per os. On the day of presentation, the patient awoke feeling weak. He got out of bed and fell down with loss of consciousness for seconds to minutes, witnessed by his wife. Other review of systems was negative. Physical exam revealed normal vital signs and a well-appearing gentleman without obvious abnormalities. Initial labs were notable for a hemo- globin of 9.1, BUN/Cr ratio of 29/0.7, and a respiratory viral panel positive for influenza A. The syncope was initially attributed to hypovolemia from his influenza and the team planned to discharge the patient from the ER. He then had a bowel movement with a moderate amount of bright red blood. Vital signs and Hgb remained stable. The patient was then admitted to medicine for further work-up. The patient continued to have bright red blood followed by melenic stools in the morning and was taken urgently to the endoscopy suite. EGD revealed a large ulcerated mass oozing blood in the gastric body. Biopsies were non-diagnostic. Endoscopic ultrasound was subsequently performed showing a mass arising from the muscularis propria protruding 4-5 cm into the mid gastric body. The patient underwent a partial gastrectomy and resection of his mass. Pathology confirmed the diagnosis of gastrointestinal stromal tumor, mixed-type. The patient improved and was discharged on Hospital Day 11. While gastrointestinal stromal tumors tend to be benign, their presentations can be quite variable. In general, GISTs are characterized by non-specific symptoms like early satiety or bloating. In this case, our patient presented with an acute GI bleed and syncope from a GIST that had grown to be large and ulcerated. The patient's stable vital signs and his viral illness paved the way for anchoring bias, diverting the team from further investigating his anemia, and its potential role in his presentation

Introduction: Effectiveness of colonoscopy is limited by inadequate bowel preparation. Failure of proper cleansing is multifactorial, but includes the inability of patients to tolerate the bowel preparation due to side effects. It is unknown whether or not the experience with split dose preparation increases adherence to recommendation for repeat colonoscopy. Few studies to date have evaluated potential barriers to bowel preparation in underserved populations. The purpose of this study was to identify whether adverse effects of bowel preparation affect the likelihood of repeating a colonoscopy in a split-dose versus a single dose cohort Methods: Demographic, socioeconomic, medical, education and tolerability data were collected prospectively using a multi-language questionnaire. Descriptive statistics and multivariate analyses were performed on all variables assessed by our questionnaire to evaluate for differences in patients who were likely or unlikely to repeat the preparation. Results: A total of 990 patients satisfied the study criteria (Figure 1). 54.6% of the patients were male, 39.7% Hispanic, 41.2% with less than a high school education, and 38.9% without medical insurance. 336 (34%) completed single dose and 654 (66%) completed split dose colon preparation. In the single dose cohort there were no statistically significant differences in the side effects experienced between patients who would and would not repeat the bowel preparation (Table 1). In contrast, in the split-dose cohorts, complaints of bad taste in mouth, nausea/vomiting and headache were statistically significant causes of a patient being unlikely to repeat the bowel preparation (p < .05) (Table 2). Despite the difference in the role of symptoms in willingness to repeat colon preparation between split dose versus single does preparation groups, there was no significant difference in overall willingness to repeat colon preparation between groups (69.0% versus 71.6%, p = 0.45). Conclusion: This study highlights differences in side effects experienced by patients taking a split dose compared to a single dose preparation. Despite these differences, patients in both groups were likely to repeat a colonoscopy. These results should give a provider confidence in prescribing a split dose preparation to a diverse patient population

This retrospective cohort study compared blood pressure (BP) control (BP <140/90 mm Hg) and all-cause mortality between US- and foreign-born blacks. We used data from a clinical data warehouse of 41 868 patients with hypertension who received care in a New York City public healthcare system between 2004 and 2009, defining BP control as the last recorded BP measurement and mean BP control. Poisson regression demonstrated that Caribbean-born blacks had lower BP control for the last BP measurement compared with US- and West African-born blacks, respectively (49% vs 54% and 57%; P<.001). This pattern was similar for mean BP control. Caribbean- and West African-born blacks showed reduced hazard ratios of mortality (0.46 [95% CI, 0.42-0.50] and 0.28 [95% CI, 0.18-0.41], respectively) compared with US-born blacks, even after adjustment for BP. BP control rates and mortality were heterogeneous in this sample. Caribbean-born blacks showed worse control than US-born blacks. However, US-born blacks experienced increased hazard of mortality. This suggests the need to account for the variations within blacks in hypertension management.