A case report of esophageal leiomyoma in Alport's syndrome treated with robotic-assisted distal myotomy: A surgical technique to avoid esophagectomy.

INTRODUCTION: Alport's syndrome is the most common hereditary nephropathy, characterized by progressive renal failure, sensorineural deafness, and ocular abnormalities. It may rarely coexist with diffuse leiomyomatosis of the digestive tract, respiratory tract, or female genitalia, and in this setting, it is called Alport-leiomyomatosis syndrome. The leiomyomas most commonly affect the esophagus, and the symptoms have early onset. Treatment is usually esophagectomy. CASE PRESENTATION: We report the case of an 8 years-old girl in which we performed a novel strategy of an esophagus-sparing approach with a robotic-assisted myotomy. This conservative approach has never been described in the literature to our knowledge. DISCUSSION: The underpinning rationale was to resolve the patient's symptoms with partial resection of the benign tumor, avoiding an esophagectomy. Although it is likely related to a higher relapsing rate, it is more tolerable by an 8 years-old patient, and was highly effective in resolving her symptoms. CONCLUSION: The video of a successful minimally invasive conservative approach to esophageal leiomyomatosis is presented.

Molecular Profile of Intrahepatic Cholangiocarcinoma.

Intrahepatic cholangiocarcinoma (ICC) is a relatively uncommon but highly aggressive primary liver cancer that originates within the liver. The aim of this study is to review the molecular profile of intrahepatic cholangiocarcinoma and its implications for prognostication and decision-making. This comprehensive characterization of ICC tumors sheds light on the disease's underlying biology and offers a foundation for more personalized treatment strategies. This is a narrative review of the prognostic and therapeutic role of the molecular profile of ICC. Knowing the molecular profile of tumors helps determine prognosis and support certain target therapies. The molecular panel in ICC helps to select patients for specific therapies, predict treatment responses, and monitor treatment responses. Precision medicine in ICC can promote improvement in prognosis and reduce unnecessary toxicity and might have a significant role in the management of ICC in the following years. The main mutations in ICC are in tumor protein p53 (TP53), Kirsten rat sarcoma virus (KRAS), isocitrate dehydrogenase 1 (IDH1), and AT-rich interactive domain-containing protein 1A (ARID1A). The rate of mutations varies significantly for each population. Targeting TP53 and KRAS is challenging due to the natural characteristics of these genes. Different stages of clinical studies have shown encouraging results with inhibitors of mutated IDH1 and target therapy for ARID1A downstream effectors. Fibroblast growth factor receptor 2 (FGFR2) fusions are an important target in patients with ICC. Immune checkpoint blockade can be applied to a small percentage of ICC patients. Molecular profiling in ICC represents a groundbreaking approach to understanding and managing this complex liver cancer. As our comprehension of ICC's molecular intricacies continues to expand, so does the potential for offering patients more precise and effective treatments. The integration of molecular profiling into clinical practice signifies the dawn of a new era in ICC care, emphasizing personalized medicine in the ongoing battle against this malignancy.

Preoperative inflammatory markers as prognostic predictors after hepatocellular carcinoma resection: data from a western referral center.

BACKGROUND: Recent studies from eastern centers have demonstrate an association between inflammatory response and long-term outcomes after hepatocellular carcinoma (HCC) resection. However, the prognostic impact of inflammatory markers in western patients, with distinct tumor and epidemiologic features, is still unknown. AIM: To evaluate the prognostic impact of preoperative neutrophil-to-lymphocyte ratio (NLR), platelet-to-lymphocyte ratio (PLR), and monocyte-to-lymphocyte ratio (MLR), as well as their impact according to tumor size (< 5 cm, 5-10 cm, > 10 cm) in patients undergoing HCC resection with curative intent. METHODS: Optimal cut-off values for NLR, PLR, and MLR were determined by plotting the receiver operator curves. Overall survival (OS) and disease-free survival (DFS) curves were calculated using the Kaplan-Meier method and compared using the log-rank test. The Cox method was used to identify independent predictors of OS and DFS. RESULTS: In total, 161 consecutive adult patients were included. A high NLR (> 1.715) was associated with worse OS (P = 0.018). High NLR (> 2.475; P = 0.047) and PLR (> 100.25; P = 0.028) were predictors of short DFS. In HCC < 5 cm, MLR (> 1.715) was associated with worse OS (P = 0.047). In the multivariate analysis, high PLR was an independent predictor of worse DFS [hazard ratio (HR) 3.029; 95%CI 1.499-6.121; P = 0.002]. CONCLUSION: Inflammatory markers are useful tools to predict long-term outcomes after liver resection in western patients, high NLR was able to stratify subgroups of patients with short OS and DFS, an increased PLR was an independent predictor of short DFS, while high MLR was associated with short OS in patients with early HCC.

Anorectal Mucosal Melanoma: A Case Report and Literature Review.

BACKGROUND Anorectal mucosal melanoma (AMM) is a rare and aggressive neoplasm, with a 5-year survival rate of 10%. Due to its rarity and nonspecific symptoms, the diagnosis is often made late. Surgical resection remains the criterion standard for treatment of anorectal melanoma. CASE REPORT We present the case of an 81-year-old woman presenting with hematochezia, anal secretion, tenesmus, difficulty in defecation, and perianal pain. On physical examination, there was a prolapse of a 5-cm melanocytic nodule in the anal canal, hard on palpation. Biopsy confirmed anorectal melanoma. Staging revealed anal and metastatic disease, with adrenal, lymphatic, and hepatic involvement. As the patient continued to have bleeding, severe pain, and difficulty in defecation, she was submitted to a wide local excision. At 5-month follow-up, the anal lesion had relapsed, and the patient died 10 months after the procedure. CONCLUSIONS AMM is a rare and extremely aggressive tumor. Symptoms are nonspecific but early diagnosis should be pursued to allow curative treatment. Surgical resection with free margins is the goal of surgical treatment. New therapies are being studied, including immunotherapy, which can improve the dismal prognosis of this rare disease.