Juvenile polyposis syndrome with gastric and duodenal polyposis presenting with refractory anemia and protein-leakage gastroenteropathy in a patient with SMAD4 mutation: a case report.

BACKGROUND: Juvenile polyposis syndrome (JPS) is an autosomal dominant, inherited disorder characterized by multiple hyperproliferative polyps of the gastrointestinal tract, particularly of the colon, rectum, and stomach. SMAD4 mutations are frequently associated with multiple polyposis of the stomach; the condition causes severe bleeding and hypoproteinemia, which may progress to severe dysplasia and adenocarcinoma formation. We report our experience with the first case of total gastrectomy with pancreaticoduodenectomy following two partial jejunectomies for JPS, who presented with refractory anemia and protein-losing gastroenteropathy due to polyposis of the stomach and duodenum. CASE PRESENTATION: A 33-year-old Japanese man presented with the chief complaint of shortness of breath on exertion. His family history included gastric polyposis (mother, aunt, and cousin) and cerebral infarction (grandmother). Blood testing at the initial visit indicated iron-deficiency anemia, whereas endoscopy revealed multiple polyps in the duodenum and jejunum. Genetic testing revealed a 4 bp deletion (TGAA) in exon 5 of the SMAD4 gene; two partial small bowel resections were performed, but polyps grew in the remaining stomach, duodenum, and small intestine. The patient developed hypoalbuminemia and anemia, and required central venous nutrition and blood transfusion. However, because the hyponutrition and anemia remained poorly controlled, a total gastrectomy with concomitant pancreaticoduodenectomy was performed. Malnutrition and anemia improved, and there was no polyp recurrence in the remaining intestinal tract at 18 months after the surgery. CONCLUSIONS: We report a case of JPS with refractory anemia and protein-losing gastroenteropathy that was treated with total gastrectomy with concomitant pancreaticoduodenectomy. Although the surgery was highly invasive, the patient's nutritional status and anemia improved postoperatively, and the treatment was successful. However, to determine the appropriate surgical procedure, a detailed examination of the gastrointestinal lesions and the effects of the surgical invasion on nutritional status must be undertaken.

Intrahepatic Cholangiocarcinoma with High Microsatellite Instability and Tumor Mutation Burden That Responded Significantly to Pembrolizumab but Perforated within a Short Period.

Cholangiocarcinoma has a poor prognosis, and resection is the only curative treatment. Pembrolizumab, a programmed death receptor 1 inhibitor, has proven effective against unresectable or metastatic solid tumors with high microsatellite instability (MSI-H) or a high tumor mutation burden (TMB-H). In the present case, pembrolizumab treatment was initiated after standard chemotherapy for MSI-H and TMB-H unresectable intrahepatic cholangiocarcinoma. Intrahepatic tumor necrosis perforated the abdominal cavity. Emergency surgery was performed, but the patient died 36 days after admission. A pathological autopsy revealed that the intrahepatic tumor had almost completely disappeared.

Long-term Catch-up Growth and Risk Factors for Short Adult Height After Pediatric Liver Transplantation: A Retrospective Study.

BACKGROUND: Children requiring liver transplantation generally have severe growth retardation. Recipients experience posttransplantation catch-up growth, although some show short adult heights. We aimed to determine decades-long catch-up growth trends and risk factors for short adult height following liver transplantation. METHODS: We analyzed long-term height Z scores and risk factors for short adult height in a single-center retrospective cohort of 117 pediatric liver transplantation recipients who survived >5 y, with 75 of them reaching adult height. RESULTS: Median age at transplantation was 1.3 y, and the most common primary diagnosis was biliary atresia (76.9%). Mean height Z scores pretransplantation and 1, 3, and 8 y after transplantation were -2.26, -1.59, -0.91, and -0.59, respectively. The data then plateaued until 20 y posttransplantation when mean adult height Z score became -0.88, with a median follow-up of 18.6 y. Nineteen recipients did not show any catch-up growth, and one quarter of recipients had short adult height (<5th percentile of the healthy population). Multivariate analysis identified old age (odds ratio, 1.22 by 1 y; P = 0.002), low height Z scores at transplantation (odds ratio, 0.46 by 1 point; P < 0.001), and posttransplantation hospital stay ≥60 d (odds ratio, 4.95; P = 0.015) as risk factors for short adult height. In contrast, prolonged steroid use after transplantation was not considered a significant risk factor. CONCLUSIONS: Although tremendous posttransplantation catch-up growth was observed, final adult height remained inadequate. For healthy physical growth, liver transplantation should be performed as early as possible, before growth retardation becomes severe.

Late-onset Chronic Kidney Disease Over 2 Decades After Pediatric Liver Transplantation: A Single-center, Retrospective Study.

BACKGROUND: Although chronic kidney disease (CKD) after liver transplantation (LTx) is a common complication in adults, its long-term significance after pediatric LTx remains unclear. We examined the decades-long transition of renal function and revealed the risk factors for late-onset CKD after pediatric LTx in a single-center retrospective cohort of 117 pediatric LTx recipients who survived >5 y. METHODS: The estimated glomerular filtration rate (eGFR) and CKD stages were calculated using serum creatinine. Risk factor analysis for late-onset CKD was performed in 41 patients whose eGFR could be evaluated at >20 y after LTx. RESULTS: The median age at LTx was 1.3 y, and most primary diagnoses were biliary atresia (77%). The mean pre-LTx and 1, 5, 10, 20, and >20 y post-LTx eGFRs were 180, 135, 131, 121, 106, and 95 mL/min/1.73 m 2 , respectively, with a median renal follow-up period of 15 y. The eGFR declined by 47% at >20 y after LTx ( P < 0.001). CKD was observed in 8%, 19%, and 39% of cases at 10, 20, and >20 y after LTx, respectively. In patients receiving cyclosporine, trough levels were 1.5 times higher in those with CKD up to 10 y after LTx. The multivariate analysis showed that older age at LTx (odds ratio, 1.3 by 1 y; P = 0.008) and episodes of repeated/refractory rejection (odds ratio, 16.2; P = 0.002) were independent risk factors of CKD >20 y after LTx. CONCLUSIONS: In conclusion, renal function deteriorates slowly yet steadily after pediatric LTx. Long-term careful surveillance is essential after pediatric LTx, especially in repeated/refractory rejection or long-term high trough-level use of cyclosporine cases.

Urgent versus elective laparoscopic cholecystectomy following percutaneous transhepatic gallbladder drainage for high-risk grade II acute cholecystitis.

BACKGROUND: The aim of this study was to evaluate the safety of urgent laparoscopic cholecystectomy (Lap-C) for grade II acute cholecystitis (AC) in high-risk patients who were defined by Tokyo Guideline 18 as having age-adjusted Charlson comorbidity index ≥6 or American Society of Anesthesiologists physical status classification (ASA-PS) ≥ 3, compared with elective Lap-C following percutaneous transhepatic gallbladder drainage (PTGBD). METHODS: In 73 grade II AC patients who underwent Lap-C from January 2012 to March 2021, 35 were identified as high-risk; 22 underwent urgent Lap-C (urgent group) and 13 PTGBD followed by elective Lap-C (elective group). Surgical and perioperative outcomes were analyzed. RESULTS: There was no significant difference in operation time (median: 101 min vs 125 min; P = 0.371), blood loss (25 ml vs 7 ml; P = 0.853), morbidity rate (31.8% vs 38.5%; P = 0.726), or the incidence of total perioperative major complications (13.6% vs 15.4%; P = 1.000) between the two groups. The total duration of treatment was significantly shorter in the urgent group than the elective group (11 days vs 71 days; P < 0.001). Multivariate analysis revealed that blood loss ≥45 ml [odds ratio (OS): 12.14, 95% confidence interval (CI): 2.03-72.42, P = 0.006], and age ≥75 years with ASA-PS ≥ 3 (OS: 9.85, 95%CI: 1.26-77.26, P = 0.03) were the independent risk factors for total perioperative major complications. CONCLUSION: In well-selected high-risk patients with grade II AC, urgent Lap-C can be performed with comparable safety to elective Lap-C following PTGBD.

Rescue percutaneous transhepatic portal vein embolization after failed associated liver partition and portal vein ligation for staged hepatectomy in a patient with multiple liver metastases of rectal cancer: a case report.

BACKGROUND: Liver metastasis is the most common form of distant spread of colorectal cancer. Despite oncological and surgical advances, only about 25% of patients are eligible to undergo resection. As the liver has a limited resectable volume, tumor reduction and remnant liver hypertrophy are of critical importance in treating initially unresectable colorectal cancer liver metastasis. Associated liver partition and portal vein ligation for staged hepatectomy (ALPPS) allows rapid liver hypertrophy within a short period and has been reported to be useful in recent years. CASE PRESENTATION: A 29-year-old woman complaining of bloody stool was referred to our hospital. She was diagnosed with rectal cancer (Rb) with simultaneous multiple liver and lung metastases. The patient was then initially commenced on chemotherapy and completed it with a satisfactory response. Right trisectionectomy was necessary to achieve hepatic clearance; however, the future liver remnant (FLR) volume was insufficient. Therefore, we decided to perform totally laparoscopic ALPPS to obtain enough FLR volume. However, the FLR increase was slow, and FLR did not attain the required volume for right trisectionectomy. Computed tomography showed that right portal venous blood flow was increased via developed collateral vessels around the portal vein. We attempted to induce further liver growth by blocking portal blood flow using additional percutaneous transhepatic portal vein embolization (PTPE), and a rapid increase in FLR was obtained. The patient underwent right trisectionectomy and partial resection of S2 with negative margins, and the patient was discharged without postoperative liver failure. CONCLUSIONS: Resumption of the portal venous blood flow through collateral vessels after ALPPS may have interfered with the planned residual liver hypertrophy. Performing PTPE in addition to ALPPS increased the FLR volume, and radical hepatectomy was completed safely. Remnant portal venous blood flow following ALPPS is an important issue to be considered in surgical planning, and early additional portal vein embolization could be effective.

Gallbladder Burkitt's lymphoma mimicking gallbladder cancer: A case report.

BACKGROUND: Malignant lymphoma is a rare form of gallbladder malignancy. Most of these malignancies are diffuse large B-cell lymphomas or mucosa-associated lymphoid tissue-type lymphomas; however, Burkitt's lymphoma of the gallbladder is extremely rare, and only two previous reports are available in the literature. Herein, we report a rare case of Burkitt's lymphoma of the gallbladder mimicking gallbladder adenocarcinoma. CASE SUMMARY: An 83-year-old man with no abdominal complaints was found to have a gallbladder tumor and periportal lymph node enlargement on computed tomography (CT) performed for hypertension screening. His laboratory data revealed slightly elevated serum levels of carcinoembryonic antigen and soluble interleukin 2 receptor. Imaging examinations revealed two irregular and contrast-enhanced masses extending into the gallbladder lumen, but these did not infiltrate the serosa. Moreover, a periportal lymph node had enlarged to 30 mm. Based on these findings, we diagnosed the patient as having gallbladder adenocarcinoma with lymph node metastasis, which was treated using bile duct resection with gallbladder bed resection and periportal lymph node dissection. However, the patient was finally diagnosed as having Burkitt's lymphoma. Although the surgical margin was pathologically negative, recurrence was noted at the hepatic radical margin and superior pancreaticoduodenal lymph nodes on positron emission tomography/CT soon after discharge. Thus, he was referred to a hematologist and started receiving treatment with reduced-dose cyclophosphamide, doxorubicin, vincristine, and prednisone. CONCLUSION: Burkitt's lymphoma can occur in the gallbladder. Biopsy can be useful in cases with findings suggestive of gallbladder malignant lymphoma.

Correlation of LGR5 expression and clinicopathological features in intrahepatic cholangiocarcinoma.

Leucine-rich repeat-containing G-protein-coupled receptor 5 (LGR5) is a known cancer stem cell marker. However, there are no reported analyses of LGR5 mRNA expression in normal liver and liver cancer tissues. Here, we evaluated LGR5 expression by RNAscope, a newly developed RNA in situ hybridization technique, using a tissue microarray consisting of 25 samples of intrahepatic cholangiocarcinoma (ICC) selected from the medical archives at our hospital. LGR5 expression levels were divided into high and low expression groups by the five-grade scoring system, and clinicopathological features were analyzed. Low LGR5 expression was identified in some normal hepatocytes and bile duct cells. In addition, LGR5 expression was identified in all bile duct cancer samples except one case. Well-differentiated to moderately-differentiated adenocarcinoma tended to show higher LGR5 expression than poorly-differentiated adenocarcinoma (P = 0.0561), and the large duct type showed significantly higher LGR5 expression levels than the small duct type (P = 0.0225). Patients in the high LGR5 expression group tended to have good overall survival (OS) (P = 0.0623). The Cox proportional hazard regression model revealed that the high LGR5 expression group showed independently better OS for ICC (P = 0.0285). High LGR5 expression is possibly a good prognosis factor in ICC. However, the detailed mechanism of LGR5 in this disease remains unclear, and further analysis is warranted.

Colocutaneous fistula associated with Crohn's disease following Kugel patch repair for inguinal hernia: a case report.

Colocutaneous fistula associated with Crohn's disease after mesh repair for inguinal hernia has not been previously reported in the literature. We report such case in an 83-year-old man following a preperitoneal repair of a left-sided inguinal hernia using Kugel patch. The patient has Crohn's disease in remission status for 4 years. One month after inguinal hernia repair, he presented with fever and left-sided inguinal pain and swelling. Computed tomography revealed abscess formation in the preperitoneal and subcutaneous space of the left-sided inguinal region. Colonoscopy showed local exacerbation of Crohn's disease in the sigmoid colon, and formation of fistula between the sigmoid colon and abdominal wall of the left-sided inguinal region. We performed mesh removal with Hartmann resection following percutaneous abscess drainage. The post-operative course was uneventful, and no sign of recurrence of the hernia was found for 3 years post-operatively.

Preoperative Peripheral Blood Lymphocyte-to-Monocyte Ratio Predicts Long-Term Outcome for Patients with Pancreatic Ductal Adenocarcinoma.

BACKGROUND: Although various biomarkers are useful in predicting cancer prognosis, the most effective preoperative systemic biomarkers for pancreatic ductal adenocarcinoma (PDAC) have not been established. This study aimed to evaluate whether the lymphocyte-to-monocyte ratio (LMR) can predict the long-term outcomes for patients who were to undergo surgical resection of PDAC. METHODS: The study involved 170 patients with PDAC who underwent resection. Multivariate analysis was performed to identify the independent prognostic factors for overall survival (OS) and disease-free survival (DFS) among clinicopathologic, surgical, and seven systemic biomarker-related factors including LMR. Subgroup analysis of PDAC located in the body and tail of the pancreas (B/T PDAC) was performed (n = 60) to eliminate the influence of preoperative cholangitis and surgical procedure. Furthermore, OS according to the postoperative course of the LMR value group was investigated. RESULTS: A low LMR (<3.3) was the only independent predictive factor for OS (hazard ratio [HR], 3.52; p < 0.001) and DFS (HR, 3.31; p < 0.001) among the systemic biomarkers. Subgroup analysis of the B/T PDAC also showed that low the LMR was the independent predictive factor for OS (HR, 3.24; p = 0.002) and DFS (HR, 4.42; p = 0.003). The PDAC that maintained a high LMR from before surgery to 1 year after surgery showed good long-term outcomes (median OS, 8.5 years; 5-year survival rate, 61.8 %). CONCLUSIONS: Preoperative LMR was an independent predictor of OS and DFS after surgery for PDAC. Maintaining a high LMR through the pre- and postoperative courses might improve the prognosis for patients with PDAC.