Updated techniques and evidence for endoscopic ultrasound-guided tissue acquisition from solid pancreatic lesions.

Endoscopic ultrasound-guided tissue acquisition (EUS-TA), including fine-needle aspiration (EUS-FNA) and fine-needle biopsy (EUS-FNB), has revolutionized specimen collection from intra-abdominal organs, especially the pancreas. Advances in personalized medicine and more precise treatment have increased demands to collect specimens with higher cell counts, while preserving tissue structure, leading to the development of EUS-FNB needles. EUS-FNB has generally replaced EUS-FNA as the procedure of choice for EUS-TA of pancreatic cancer. Various techniques have been tested for their ability to enhance the diagnostic performance of EUS-TA, including multiple methods of sampling at the time of puncture, on-site specimen evaluation, and specimen processing. In addition, advances in next-generation sequencing have made comprehensive genomic profiling of EUS-TA samples feasible in routine clinical practice. The present review describes updates in EUS-TA sampling techniques of pancreatic lesions, as well as methods for their evaluation.

A case of intraductal papillary neoplasm of the bile duct suspected to be of peribiliary glands origin.

Peribiliary glands are complex lobular structures containing mucus and serous glands, distributed along the extrahepatic and intrahepatic bile ducts. In this report, we describe a case of intraductal papillary neoplasm of the bile duct suspected to be of peribiliary glands origin. The patient was an 80-year-old man who was referred to our hospital for a hepatic mass. On further examination, a 38 × 34 mm cystic lesion with papillary growth was found in S1/4. Because the lesion was extensively bordered by both hepatic ducts and the connection was unclear, it was difficult to determine the extent of hepatic resection. To confirm the location, a peroral cholangioscopy was performed. The connection with the cyst was detected in the right hepatic duct and a villous tumor mucosa protruded through the conduit lumen. Since we found that the lesion communicated with the right hepatic duct, a right hepatectomy was subsequently performed. The postoperative pathological diagnosis was an intraductal papillary neoplasm of the blie duct with associated invasive carcinoma. The postoperative course was good, and the patient experienced no recurrence.

Rare case of mantle cell lymphoma of the lacrimal sac

ABSTRACT Mantle cell lymphoma of the ocular and periorbital regions is extremely rare but should be considered in the differential diagnosis of lesions affecting the periorbital tissues. In this study, we present a rare case of mantle cell lymphoma of the lacrimal sac in a 65-year-old male presenting with a mass in the lacrimal sac region and epiphora. After clinical examinations and imaging studies, the mucocele was misdiagnosed. Considering the unexpected findings during external dacryocystorhinostomy, a frozen biopsy was performed, which confirmed the diagnosis of lymphoma.

A narrative review of advances in the management of urothelial cancer: Diagnostics and treatments.

Urothelial carcinoma (UC) refers to the malignancies originating from transitional epithelium located on the upper and lower urinary tract. Precise diagnosis of UC is crucial since it dictates the treatment efficacy and prognosis of UC patients. Conventional diagnostic approaches of UC mainly fall into four types, including liquid biopsy, imaging examination, endoscopic examination, and histopathological assessment, among others, each of them has contributed to a more accurate diagnosis of the condition. Therapeutically, UC is primarily managed through surgical intervention. In recent years, minimally invasive surgery (MIS) has been incrementally used and is showing superiority in terms of lowered perioperative morbidity and quicker recovery with similar oncological outcomes achieved. For advanced UC (aUC), medical therapy is dominant. While platinum-based chemotherapies are the standard first-line option for aUC, some novel treatment alternatives have recently been introduced, such as immune checkpoint inhibitors (ICIs), targeted therapies, and antibody-drug conjugates (ADCs). ADCs, a group of sophisticated biopharmaceutical agents consisting of monoclonal antibodies, cytotoxic payload, and linker, have been increasingly drawing the attention of clinicians. In this review, we synthesize the recent developments in the precise diagnosis of UC and provide an overview of the treatment options available, including MIS for UC and emerging medications, especially ADCs of aUC.

Unusual presentation of a splenic infarction.

A 41-year-old male with a history of tobacco and alcohol use presented to our clinic for a follow up of an incidentally diagnosed splenic mass. The patient was sent for further diagnostic evaluation, and computed tomography showed a large splenic mass with heterogenous enhancement raising concern for neoplasm. Due to the uncertain nature of the splenic lesion and high complication rate of percutaneous splenic biopsy, a splenectomy was performed. The specimen was sent to pathology, and the report favored neoplasm but was inconclusive. The samples were sent to another institution for a consult, where the patient's spleen was determined to be the result of a previously suffered hemorrhagic infarct. This case demonstrates the difficulty of diagnosing splenic lesions using diagnostic imaging and the discrepancy that may occur between radiology and pathology assessments. In the setting of uncertain pathology, the removal of what might be a functional spleen is often preferred over a percutaneous biopsy due to concerns of intraabdominal bleeding and tumor dissemination.

Differentiating appendiceal neoplasm from perforated appendiceal diverticulum in chronic appendicitis: a case report.

Low mucinous neoplasm of the appendix (LAMN) and appendiceal diverticulum are both uncommon pathologies that may pose a diagnostic challenge. Both may present as either appendicitis or asymptomatically and have a risk of perforation. LAMN, carries the additional risk of pseudomyxoma pertitonei and metastasis. Ensuring correct histopathology is crucial, as computed tomography (CT) abdomen/pelvis may only demonstrate a mildly dilated appendix, delaying diagnostic laparoscopy and appendicectomy. Here, we describe the case report of a 56-year-old woman who presented with chronic intermittent right iliac fossa pain initially determined to be chronic appendicitis. Following laparoscopic appendicectomy, histopathology demonstrated LAMN, however, on further re- assessment of histopathology, as well as the completion of a normal pan-CT and colonoscopy, a final diagnosis of ruptured appendiceal diverticulum was made. Our case demonstrates the utility of a multi-disciplinary approach in evaluating patients with possible appendiceal LAMN or appendiceal diverticulum.

Germline genetic variants that predispose to myeloproliferative neoplasms and hereditary myeloproliferative phenotypes.

Epidemiological evidence of familial predispositions to myeloid malignancies and myeloproliferative neoplasms (MPN) has long been recognised, but recent studies have added to knowledge of specific germline variants in multiple genes that contribute to the familial risk. These variants may be common risk alleles in the general population but have low penetrance and cause sporadic MPN, such as the JAK2 46/1 haplotype, the variant most strongly associated with MPN. Association studies are increasingly identifying other MPN susceptibility genes such as TERT, MECOM, and SH2B3, while some common variants in DDX41 and RUNX1 appear to lead to a spectrum of myeloid malignancies. RBBP6 and ATM variants have been identified in familial MPN clusters and very rare germline variants such as chromosome 14q duplication cause hereditary MPN with high penetrance. Rarely, there are hereditary non-malignant diseases with an MPN-like phenotype. Knowledge of those genes and germline genetic changes which lead to MPN or diseases that mimic MPN helps to improve accuracy of diagnosis, aids with counselling regarding familial risk, and may contribute to clinical decision-making. Large scale population exome and genome sequencing studies will improve our knowledge of both common and rare germline genetic contributions to MPN.

Percutaneous radiofrequency ablation of liver metastases from colorectal cancer: Development of a prognostic score to predict overall survival.

PURPOSE: To develop a model for pretreatment prediction of overall survival (OS) after radiofrequency ablation (RFA) for colorectal liver metastasis (CRLM). METHOD: This retrospective study included 491 patients (median age, 61 years; 348 men) who underwent percutaneous RFA for CRLM between 2000 and 2021. The Kaplan-Meier method was used to estimate OS rates. Independent factors affecting OS were investigated using multivariable Cox regression analysis. Risk scores were assigned to the risk factors and pretreatment prediction models were created using the risk factors. RESULTS: After RFA, the 5-, 10-, and 20-year OS rates were 44 %, 31 %, and 24 %, respectively, and the median OS was 46 months. Multivariate Cox regression analysis showed that a largest tumor size ≥ 2 cm (P<0.001), positive nodal status of primary tumor (P<0.001), carcinoembryonic antigen level > 30 ng/mL (P=0.049), multiple tumors (P=0.008), and T4 stage of the primary tumor (P=0.029) were independently associated with OS. In patients with a single CRLM, tumor diameter (P<0.001), positive nodal status of primary tumor (P=0.001), disease-free interval <12 months (P=0.045), and subcapsular location (P=0.03) were risk factors affecting OS. According to our prediction models, which included the aforementioned risk factors, OS rates progressively decreased as the risk scores increased, with significantly different OS rates between contiguous groups (P<0.001). CONCLUSIONS: Our prediction models can be used as a prognostic stratification tool in patients with CRLM, and can help select those candidates who will benefit most from RFA.

Racial disparity in peripheral nerve block usage in breast reconstruction: A nationwide analysis.

Peripheral nerve block (PNB) usage in plastic surgery is associated with reduction in post-operative opioid consumption and pain demonstrating benefits in breast reconstruction (BR). This retrospective study explored whether racial-ethnic disparities exist with PNB use for postoperative analgesia in patients undergoing BR. Using the American College of Surgeons National Surgical Quality Improvement Program database, women who underwent BR from 2012-2021 and received "regional" in addition to general anesthesia were included in the study. Patients without race and ethnicity data and who received other additional anesthesia were excluded. Unweighted rates of PNB use were compared between racial-ethnic groups and BR modality. Multivariate logistic regression assessed whether race and ethnicity were independently associated with receiving PNBs. A total of 25,188 patients underwent BR and 9429 patients (37.4%) received PNB for postoperative analgesia. Patient demographics reached statistical, but not clinical, significance in age and BMI. Comorbidities were not significantly different between groups. Black patients were less likely to receive PNBs (p < 0.001), while Asian and Other patients were more likely to receive PNBs compared to White patients (p < 0.001). Black patients were less likely to receive PNB in immediate implant-based and autologous BR, as well as delayed autologous (p < 0.05). Asian patients were more likely to receive PNB for all implant-based BR compared to White patients (p < 0.001). Ethnicity had no significant impact on receipt of PNB. As a conclusion, racial disparity exists in use of PNBs for postoperative analgesia in BR. Equitable access to PNBs should be championed to not augment baseline racial disparity in BR.

Her2-positive breast cancer in a young patient with Li-Fraumeni syndrome: A comprehensive case study.

INTRODUCTION AND IMPORTANCE: Li-Fraumeni syndrome (LFS) is a rare hereditary disorder caused by mutations in the TP53 gene, leading to a significantly increased risk of developing various cancers at a young age, including breast cancer. CLINICAL PRESENTATION: This case report details the clinical journey of a 21-year-old female diagnosed with Grade 3 invasive ductal carcinoma, which was estrogen receptor low positive and progesterone receptor negative but positive for Her2 (3+) with a high Ki67 proliferation index. CLINICAL DISCUSSION: Genetic testing confirmed a TP53 mutation, establishing the diagnosis of LFS. The patient underwent neoadjuvant chemotherapy with TCHP (docetaxel, carboplatin, trastuzumab, pertuzumab), resulting in a complete clinical response. This was followed by bilateral skin-sparing and nipple-sparing mastectomy with sentinel lymph node biopsy and immediate reconstruction. Postoperative pathology confirmed a complete response to neoadjuvant therapy. The patient's treatment plan includes 12 cycles of trastuzumab and pertuzumab, with regular echocardiograms to monitor cardiac function and fertility preservation strategies involving monthly Lupron injections. Given the association of LFS with a high risk of multiple primary cancers, a rigorous surveillance strategy is essential. The psychological impact of a cancer diagnosis and the burden of living with a hereditary cancer syndrome were significant, necessitating comprehensive psychosocial support. CONCLUSION: Managing Li-Fraumeni syndrome (LFS) and its associated cancers, particularly in young patients, necessitates a comprehensive and multidisciplinary approach. Early genetic testing for TP53 mutations is crucial in identifying LFS, enabling personalized treatment plans and proactive surveillance strategies.

The bowel function instrument for rectal cancer survivors with anastomosis and ostomy.

OBJECTIVE: Rectal cancer is often treated with surgery such as ostomy or anastomosis. The Bowel Function Instrument (BFI) is a valid and reliable 18-item measure of physical bowel symptoms. Some items on the BFI do not apply to those with ostomies. We reanalyzed data from a previous validation study to inform the best method for scoring the BFI for both people with ostomies and anastomosis. METHODS: People (n = 575) with rectal cancer treated with ostomy (n = 181, 31 %) or anastomosis (n = 394, 69 %) completed the BFI and Short Form 12 (SF12) measure on a mailed survey. The full BFI has three subscales and a total score based on 14 items: soilage/urgency (4 items); frequency of bowel movements (6 items); and dietary changes (4 items). We used confirmatory factor analysis (CFA) to examine two versions (8-item, 11-item) of the BFI adapted for use with both ostomy and anastomosis. We also examined reliability and validity of the version supported by the CFA. RESULTS: CFA results supported the 8-item BFI that included only the soilage/urgency items and dietary changes items but not the frequency items. The 8-item BFI was reliable (Cronbach's alpha of 0.788). The 8-item BFI score significantly correlated with all SF12 subscales with Pearson correlations ranging from 0.115 (Vitality) to 0.318 (social function). CONCLUSIONS: The 8-item version of the BFI was valid and reliable as a total score for people with ostomy or anastomosis. The 8-item BFI may be useful for monitoring bowel function during and after treatment for rectal cancer.

Case of Undifferentiated Carcinoma with Osteoclast-like Giant Cells Associated with a Mucinous Cystic Neoplasm of the Pancreas: A Diagnostic Conundrum.

Undifferentiated carcinoma with osteoclast-like giant cells (UC-OGC) is a rare histological subtype of pancreatic ductal adenocarcinoma according to the World Health Organization classification of digestive system tumors. This subtype is exceptionally uncommon, accounting for less than 1% of pancreatic malignant tumors. This paper presents a rare case of a 62-year-old female patient diagnosed with UC-OGC. The patient initially presented with symptoms, including epigastric pain and the presence of an abdominal mass, which led to further investigation and the eventual diagnosis of this unusual and challenging form of pancreatic cancer.

[Current Status of Chemotherapy in Colorectal Cancer: Updated Treatment Strategies].

Colorectal cancer remains a significant health burden in South Korea, being the third most diagnosed cancer in the country. Despite advances in treatment, patients with metastatic colorectal cancer still face limited survival rates, with resection often deemed impossible for the majority. This review discusses the current state of chemotherapy in colorectal cancer treatment, focusing on both adjuvant chemotherapy post-surgery and palliative chemotherapy for metastatic cases. The article highlights recent updates in treatment guidelines, including the use of immunotherapy and the role of circulating tumor DNA (ctDNA) in personalized medicine. The integration of these novel approaches aims to enhance treatment efficacy, improve patient survival, and reduce recurrence rates, paving the way for more tailored and effective therapeutic strategies in colorectal cancer management.

Metabolomic Profiling of Pulmonary Neuroendocrine Neoplasms.

BACKGROUND/OBJECTIVES: Pulmonary neuroendocrine neoplasms (NENs) account for 20% of malignant lung tumors. Their management is challenging due to their diverse clinical features and aggressive nature. Currently, metabolomics offers a range of potential cancer biomarkers for diagnosis, monitoring tumor progression, and assessing therapeutic response. However, a specific metabolomic profile for early diagnosis of lung NENs has yet to be identified. This study aims to identify specific metabolomic profiles that can serve as biomarkers for early diagnosis of lung NENs. METHODS: We measured 153 metabolites using liquid chromatography combined with mass spectrometry (LC-MS) in the plasma of 120 NEN patients and compared them with those of 71 healthy individuals. Additionally, we compared these profiles with those of 466 patients with non-small-cell lung cancers (NSCLCs) to ensure clinical relevance. RESULTS: We identified 21 metabolites with consistently altered plasma concentrations in NENs. Compared to healthy controls, 18 metabolites were specific to carcinoid tumors, 5 to small-cell lung carcinomas (SCLCs), and 10 to large-cell neuroendocrine carcinomas (LCNECs). These findings revealed alterations in various metabolic pathways, such as fatty acid biosynthesis and beta-oxidation, the Warburg effect, and the citric acid cycle. CONCLUSIONS: Our study identified biomarker metabolites in the plasma of patients with each subtype of lung NENs and demonstrated significant alterations in several metabolic pathways. These metabolomic profiles could potentially serve as biomarkers for early diagnosis and better management of lung NENs.

Ileocolic Intussusception Due to Low-Grade Appendiceal Mucinous Neoplasm.

We report a rare case of low-grade appendiceal mucinous neoplasm (LAMN) causing ileocolic intussusception. The case underscores the importance of considering ileocolic intussusception in differential diagnoses for nonspecific gastrointestinal symptoms. Early diagnosis via contrast-enhanced CT and scrupulous surgical intervention are crucial for favorable outcomes.

Insights into the Two Most Common Cancers of Primitive Gut-Derived Structures and Their Microbial Connections.

The gastrointestinal and respiratory systems are closely linked in different ways, including from the embryological, anatomical, cellular, and physiological angles. The highest number (and various types) of microorganisms live in the large intestine/colon, and constitute the normal microbiota in healthy people. Adverse alterations of the microbiota or dysbiosis can lead to chronic inflammation. If this detrimental condition persists, a sequence of pathological events can occur, such as inflammatory bowel disease, dysplasia or premalignant changes, and finally, cancer. One of the most commonly identified bacteria in both inflammatory bowel disease and colon cancer is Escherichia coli. On the other hand, patients with inflammatory bowel disease are at risk of several other diseases-both intestinal (such as malnutrition and intestinal obstruction, besides cancer) and extraintestinal (such as arthritis, bronchiectasis, and cancer risk). Cancers of the lung and colon are the two most common malignancies occurring worldwide (except for female breast cancer). Like the bacterial role in colon cancer, many studies have shown a link between chronic Chlamydia pneumoniae infection and lung cancer. However, in colon cancer, genotoxic colibactin-producing E. coli belonging to the B2 phylogroup may promote tumorigenesis. Furthermore, E. coli is believed to play an important role in the dissemination of cancer cells from the primary colonic site. Currently, seven enteric pathogenic E. coli subtypes have been described. Conversely, three Chlamydiae can cause infections in humans (C. trachomatis may increase the risk of cervical and ovarian cancers). Nonetheless, striking genomic plasticity and genetic modifications allow E. coli to constantly adjust to the surrounding environment. Consequently, E. coli becomes resistant to antibiotics and difficult to manage. To solve this problem, scientists are thinking of utilizing suitable lytic bacteriophages (viruses that infect and kill bacteria). Several bacteriophages of E. coli and Chlamydia species are being evaluated for this purpose.

Advancements and Challenges in Personalized Therapy for BRAF-Mutant Melanoma: A Comprehensive Review.

Over the past several decades, advancements in the treatment of BRAF-mutant melanoma have led to the development of BRAF inhibitors, BRAF/MEK inhibitor combinations, anti-PD-1 therapy, and anti-CTLA4 therapy. Although these therapies have shown substantial efficacy in clinical trials, their sustained effectiveness is often challenged by the tumor microenvironment, which is a highly heterogeneous and complex milieu of immunosuppressive cells that affect tumor progression. The era of personalized medicine holds substantial promise for the tailoring of treatments to individual genetic profiles. However, tumor heterogeneity and immune evasion mechanisms contribute to the resistance to immunotherapy. Despite these challenges, tumor-infiltrating lymphocyte (TIL) therapy, as exemplified by lifileucel, has demonstrated notable efficacy against BRAF V600-mutant melanoma. Additionally, early response biomarkers, such as COX-2 and MMP2, along with FDG-PET imaging, offer the potential to improve personalized immunotherapy by predicting patient responses and determining the optimal treatment duration. Future efforts should focus on reducing the T-cell harvesting periods and costs associated with TIL therapy to enhance efficiency and accessibility.

Life-Threatening Conditions and Preoperative Complications Associated with Cardiac Neoplasm Do Not Affect Surgical Outcomes or Mortality.

Background: Cardiac neoplasms may cause life-threatening symptoms associated with cerebral infarction, ventricular arrhythmias, and heart failure. Emergency surgery or preoperative treatment may be required for these patients. However, no study has reported the surgical outcomes in cases involving cardiac neoplasms with life-threatening complications. The current study investigated the mid- to long-term outcomes of surgery in patients with cardiac neoplasms in life-threatening conditions. Methods: This study retrospectively analyzed 36 consecutive patients who underwent resection for cardiac neoplasms with life-threatening cardiovascular, respiratory, and cerebral nervous system complications from January 2000 to December 2022. Their mean age at surgery was 54.9 years. In terms of fatal events, one patient who experienced a ventricular tachycardia storm caused by a left ventricular neoplasm was placed under deep sedation and managed with a ventilator preoperatively. Seven patients who presented with limb motor paralysis and visual defects had cerebral infarction. Two of the seven patients with cerebral infarction received cerebrovascular treatment before cardiac surgery. Results: During the follow-up period, cerebral- and cardiovascular-related deaths were not recorded. All postoperative cerebral and cardiovascular complications were new-onset cerebral infarction (n = 2) (with symptoms that improved during the long term). The mean follow-up period was 6.2 years. The 5- and 10-year survival rates of all patients were 89.8% and 78.7%, respectively. There were no significant differences in postoperative prognosis between patients with preoperative cerebral infarctions and those without. Conclusions: The long-term surgical outcome of patients with life-threatening symptomatic cardiac neoplasm was good. Thus, preoperative complications did not affect prognosis.

[High-grade lesions probability in ASCUS HPV positive patient according to HPV type]. / Probabilité diagnostique d'une lésion de haut grade chez les patientes ASCUS HPV positif en fonction du typage HPV.

OBJECTIVES: The aim of our study was to assess the proportion of high-grade histological lesions, according to HPV type, in patients referred for colposcopy involving a positive HPV-HR test and ASC-US cytology. METHODS: This is a retrospective descriptive study of asymptomatic patients aged 25 to 65 with a positive HPV-HR test and ASC-US cytology. Data were collected at the Nord Franche-Comté Hospital from September 2019 to February 2022. The primary outcome was the proportion of high-grade histological lesions in patients with ASC-US cytology combined to HPV 16 or 18 (associated or not with other HPV type), compared with HPV no 16 no 18. RESULTS: Among the 298 patients included, 67% were HPV no 16 no 18, 22% HPV 16 associated or not with others and 11% HPV 18 associated or not with others. We found significantly fewer high-grade lesions in patients with ASC-US cytology and HPV no 16 no 18 than in patients with HPV 16 or 18 (8.5% versus 22.7%, P<0.01). In patients presenting an ASC-US cytology with HPV no 16, no 18: 53% of the biopsies found no histological lesion compared with 30% for the other HPVs (P<0.01). CONCLUSIONS: We have highlighted the reality of colposcopists: a high ratio of normal coloscopy associated with normal or low-grade biopsies, in patients with a positive HPV-HR test no 16, no 18 and ASC-US cytology.

Unusual Location of a Rare Tumor: Cutaneous Myxoma of the Scrotum.

Myxoma is a rare benign mesenchymal neoplasm. Scrotal myxomas can be either cutaneous or intramuscular. Muscular myxomas are usually found in cardiac muscles and skeletal muscles of the extremities. The most common locations of cutaneous myxomas are the trunk, lower extremities, and the head and neck. However, these lesions can rarely arise in the genital area (vulva, mons pubis, and scrotum). The clinical presentation of this lesion is nonspecific, and it is difficult to make a diagnosis before a biopsy and microscopic examination. Scrotal myxomas are infrequent and can cause definite diagnostic problems.  We report a case of a 64-year-old male who presented to the surgery outpatient department with a history of scrotal swelling for 20 years. The swelling was excised and sent for histopathological examination. Histopathological examination revealed features of scrotal cutaneous myxoma.