We present here a 66-year-old Caucasian male whose persistent abdominal pain thought to be due to appendicitis and associated acute splanchnic thrombosis. He was initially managed with antibiotics and anticoagulation. But further work up revealed a low-grade appendiceal mucinous neoplasm causing the splanchnic vein thrombosis. Additionally, diagnosis and management of this rare tumor and appropriate work up for splanchnic thrombosis will be briefly reviewed here.

BackgroundSmall renal mass (SRM) biopsy remains under-utilized due to stigma. Meanwhile, the alarmingly high benign findings in resected kidney masses highlight the need for improved preoperative diagnosis and patient selection.MethodsThe purpose of this study is to review the success rate of SRM biopsy and to evaluate its impact on patient management. A total of 168 percutaneous image-guided core needle biopsies (CNBs) of SRMs were retrieved at a tertiary academic center between 2015 and 2019. Subsequent treatment choices, side effects and outcomes were retrospectively reviewed.ResultsThe diagnostic rate of CNB was 86.9%. Benign neoplasms accounted for a significant portion (14.3%) of SRM. Renal cell carcinomas (RCCs) were the most common diagnoses (69.6%) as expected. In biopsy-resection correlation, the positive predictive value of CNB was 100%. Tumor typing and subtyping by CNB were highly accurate, 100% and 98.3% respectively. Nuclear grading for clear cell RCC was accurate in 83.8% cases. The CNB results had significant impact on treatment. Most patients with RCCs underwent either resection (54.1%) or ablation (33.9%), in contrast to observation in benign neoplasms (90.5%). Most importantly, the benign resection rate (3.2%) in this series was much lower than the national average.ConclusionCNB provided accurate diagnoses for the majority of SRMs and revealed benign diagnoses in a subset of clinically suspicious lesions. Employment of CNB in suspicious SRM may help avoid overtreatment for benign lesions.

Background. Brown bowel syndrome (BBS) is a rare gastrointestinal condition, and vitamin E deficiency has been considered to be a main contributor. However, vitamin E deficiency has been found in only a few patients throughout the published literature studies and its cutoff lab value for diagnosis is not entirely clarified. Case Presentation. A 56-year-old female patient with a history of congenital bowel obstruction (repaired at birth) presented with bloating, abdominal pain, and chronic diarrhea. Endoscopy identified unremarkable gastrointestinal mucosa except a few small polyps in the colon. A partial obstruction was detected by a small bowel follow-through series and then confirmed by CT scan. The resected small bowel was significantly dilated with a thickened brown wall and extensive serosal adhesion. Microscopic examination revealed unremarkable mucosa, but dense granular brown pigments were identified in the cytoplasm of the smooth muscle cells in the muscularis propria. These deposits resulted to be lipofuscin, and BBS was diagnosed. The patient was asymptomatic at 9-month follow-up after surgery without vitamin E supplement. Conclusion. Mitochondrial damage with lipofuscin deposition is at the root of BBS pathogenesis. Any etiology associated with mitochondrial damage can cause this disease, and vitamin E deficiency is just one of them. Dysmotility from extensive serosal adhesion could be a possible etiology for this patient. Due to overlapping symptoms, lipofuscin deposition primarily in the muscularis propria, and unclear serum value of vitamin E, this syndrome is often missed in routine clinical practice from the superficial biopsy. A transmural biopsy is necessary for a definite diagnosis.

Fabry disease is an X linked disease caused by pathogenic variants in the GLA gene. The cardiovascular and renal systems are most affected in Fabry patients and may require heart or kidney transplants in the late stages of the disease depending on severity of manifestations. Enzyme replacement therapy (ERT) has proven to delay progression of Fabry disease considerably, especially when started early in life. Current research has shown that individuals who have received cardiac or renal transplants or are currently on dialysis have the greatest probability of developing severe manifestations of COVID-19. It has also been shown that people who contract COVID-19 experience a rapid increase in cytokine levels which can lead to a prothrombotic state and have a greater risk in the presence of comorbidities. A history of cardiac or renal transplants as well as the naturally elevated cytokine levels in Fabry disease make it likely that COVID-19 could have a greater impact on the health of these patients. We report the case of a 67-year-old male with diabetes mellitus, history of kidney transplant, and Fabry disease treated late in progression of the disease first with agalsidase beta ERT, then oral migalastat who developed severe manifestations of COVID-19. The autopsy findings showed acute and organizing hyaline membrane disease consistent with COVID-19 pneumonia and secondary invasive bronchopulmonary aspergillosis with cavitary lesion formation. The sections of the heart showed scattered subendocardial fibrosis, and the transplanted kidneys showed thyroidization and interstitial nephritis potentially secondary to COVID-19, in addition to his long-standing renal disease. This case report serves to chronicle complications in a complex patient with late stage Fabry disease and multiple COVID-19 related complications who succumbed from respiratory failure despite the advanced management for the COVID-19 infection.

12077 Background: There were extensive reports in literature about the debilitating health experienced by cancer patients during treatment. This study examined how the quality of life of cancer survivors changed over time. Methods: The National Health and Nutrition Examination Survey (NHANES) is a program of studies designed to assess the health and nutritional status of adults and children in the U.S. This study involved participants in NHANES from 2000-2020. Participants who reported having had a cancer diagnosis were matched one to one with participants who reported no cancer diagnosis by age, gender, race, year of recruitment into NHANES, and comorbidities. Quality of life measures including self-reported general/physical/mental health, examinations, and laboratory tests were compared between cancer cases and matched controls using paired t tests. Results: This study included 5,166 pairs of cancer cases and matched controls. Mean age was 66 (±15 years). Male 47% and female 53%. White 69%, Black 14%, Hispanic 12%, others 5%. Most common comorbidities were hypertension (56%), arthritis (50%), diabetes (19%), and thyroid (18%). About 38% of cancer cases had survived in 1-5 years; 22% in 6-10 years; 39% in 10+ years. Most prevalent cancers were skin (28%), breast (15%), and prostate (15%). Compared to controls, cancer cases who had survived in 1-5 years reported higher rates of poor general health (38% vs. 27%, p <.0001), hospitalizations (31% vs. 17%, p <.0001), mental health visits (9% vs. 7%, p =.0204). There were no significant differences in general health and healthcare utilization between cancer cases who survived > 5 years and controls. There were no clinically meaningful differences in laboratory tests and examinations between cancer cases and controls regardless of survival time. Conclusions: During the first 5 years after cancer diagnosis, survivors reported worse health than controls. As survival time extended, there was no difference between cancer cases and controls. The debilitating health reported during the first 5 years could not be explained by examinations and laboratory tests alone. Future research should explore neurochemical and hormonal markers to investigate adverse effects of cancer treatment on long-term quality of life.

INTRODUCTION: Brown bowel syndrome (BBS) is a rare condition characterized by deposition of lipofuscin in the smooth muscle cells of the muscularis propria and muscularis mucosa. This condition has been attributed to various chronic malabsorptive conditions that result in deficiency in vitamin E. Vitamin E normally acts as an antioxidant which helps stabilize the mitochondrial membranes. Lack of vitamin E leads to mitochondrial degeneration with release of lipofuscin that accumulates in the smooth muscle cells. This results in a form of myopathy with uncoordinated bowel function. There have been case reports of BBS attributed to celiac disease, IBD, chronic pancreatitis, Whipple's disease and malignancy. We present an interested case of BBS attributed to chronic bowel obstruction. CASE DESCRIPTION/METHODS: 56 yo Caucasian female who had been having chronic abdominal pain associated with a 20lb weight loss. CT scan showed a markedly dilated RLQ small bowel with air-fluid levels concerning for ileus vs partial small bowel obstruction (SBO). She subsequently under a small bowel follow through which showed a relatively high-grade partial SBO. She had an EGD and colonoscopy, both of which were unremarkable. Her medical history is notable for a congenital SBO that was repaired at birth as well as a history of ectopic pregnancy requiring removal. She eventually underwent ex-lap with extensive lysis of adhesions. There was one majorly dilated area of the small intestine measuring over 12 cm in diameter. This area was resected and histology was notable for extensive deposition of light brown granular, lipofuscin-like pigment within the smooth muscle cells of the muscularis propria. These pigments were highlighted by special stains for PAS and PAS-D. This was consistent with ceroidosis (BBS). Review of the bowel histology was unremarkable for celiac disease or Whipple’s disease. The patient also had no findings concerning for chronic pancreatitis. DISCUSSION: We describe a case of BBS that was attributed to malabsorption from a chronic partial SBO. Her bowel obstruction was believed to be caused by adhesions related to prior surgeries. While bowel dilation and atresia can occur from the myopathy associated with BBS, this patient's pathologic findings were actually attributed to a series of events that originated from her having chronic SBO. This case illustrates the impact of bowel obstructions on adequate absorption of nutrients as well as the consequences of chronic malabsorption, including the development of BBS.Figure 1.: Gross Pathology.Figure 2.: HE Stain.Figure 3.: PAS-D Stain showing lipofuscin deposition.

•Renal mass core needle biopsies revealed a subset of non-surgical conditions.•Rapid on-site evaluation using touch preps was highly concordant with final biopsy findings.•Proximal tubular cells, macrophages, and angiomyolipomas are common pitfalls.•Intracytoplasmic and background vacuoles are helpful in confirming low grade RCCs.

We present here a 66-year-old Caucasian male whose persistent abdominal pain thought to be due to appendicitis and associated acute splanchnic thrombosis. He was initially managed with antibiotics and anticoagulation. But further work up revealed a low-grade appendiceal mucinous neoplasm causing the splanchnic vein thrombosis. Additionally, diagnosis and management of this rare tumor and appropriate work up for splanchnic thrombosis will be brie fl y reviewed here