Endoscopic Ultrasound in an Adolescent With Rectal Adenocarcinoma and Lynch Syndrome

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Source: Journal of Pediatric Gastroenterology and Nutrition - Category: Gastroenterology Tags: Image of the Month Source Type: research

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We present a 47-year-old woman with an MLH1 gene mutation (G133X 397G>T) who presented with menorrhagia. Eleven family members have this mutation, 6 with carcinoma: 5 colorectal and 1 with a gynecologic primary of unknown type. Colonoscopy and endoscopy were unremarkable. Positron emission and computed tomography revealed a 3 cm anterior dome bladder mass without additional extrauterine disease or uterine connection. She underwent partial cystectomy, laparoscopic hysterectomy, bilateral salpingo-oophorectomy, and lymphadenectomy. The uterus demonstrated a dedifferentiated endometrioid adenocarcinoma, immunohistochemical...
Source: Applied Immunohistochemistry and Molecular Morphology - Category: Chemistry Tags: Online Articles: Case Reports Source Type: research
Conclusions Lynch syndrome should be suspected in families with familial pancreatic cancer, even in the absence of colon cancers. Specifically, our observation supports the association between the MSH6 c.2194C>T pathogenic variant and extracolonic tumours and it suggests that MSH6 pathogenic variants are associated with familial pancreatic cancer more frequently than assumed.
Source: European Journal of Gastroenterology and Hepatology - Category: Gastroenterology Tags: Original Articles: Gastroenterology Source Type: research
Colorectal cancer (CRC) is the third most commonly diagnosed cancer. This review gives an overview of the current knowledge of molecular mechanisms of colorectal carcinogenesis and the role of molecular testing in the management of CRC. The majority of CRCs arise from precursor lesions such as adenoma, transforming to adenocarcinoma. Three molecular carcinogenesis pathways have been identified; (1) chromosomal instability, (2) microsatellite instability (MSI), and (3) CpG island methylator phenotype, each account for ~85%, 15%, and 17%, respectively. Evaluation of MSI status, extended RAS mutation analysis, and BRAF mutati...
Source: Advances in Anatomic Pathology - Category: Pathology Tags: Review Articles Source Type: research
AbstractDiffuse type gastric cancer (DGC), a pathological subtype, is one of the most common malignant solid tumors, and mortality of this tumor is not negligible, especially in early-onset cancer patients. In fact, affirmative personalized treatments based on gene profile have not been established yet. The aim of this study was to provide the possible genotype-matched treatment for DGC through comprehensive examination of genomic variants and analysis of clinicopathological characteristics. We retrospectively studied 23 formalin-fixed, paraffin-embedded samples of patients diagnosed as DGC between January 2003 and Decembe...
Source: Medical Oncology - Category: Cancer & Oncology Source Type: research
ConclusionTo optimize targeting and visualization of the surgical field in right pelvic sidewall/paracolic gutter, robotic arms can be placed in a straight line from above the pubic symphysis extending to the left subcostal line and between the midline vertical and midclavicular lines. Robotic tumor debulking should be considered in selected patients with recurrent ovarian cancer who present with oligo-metastatic disease, in the absence of carcinomatosis.
Source: Journal of Minimally Invasive Gynecology - Category: OBGYN Source Type: research
ConclusionsRobotic resection of the tumor nodule off the external iliac vessels was successfully performed with adequate range of motion provided by the arms and without any complications.Trocar placement should be tailored to the site of surgical interest. Robotic-assisted laparoscopy should be considered as a valid alternative to the traditional open approach, when managing solitary masses in recurrent ovarian cancer patients.
Source: Journal of Minimally Invasive Gynecology - Category: OBGYN Source Type: research
ConclusionsThe ‘pelvis-first’ approach to proctectomy is advantageous for patients with a highly redundant sigmoid colon. Transabdominal division of the levator ani during APR ensures excellent circumferential margin. Although Lynch syndrome-associated rectal cancer can show excellent response to NCRT,3 patients undergoing watchful delay of surgery require close monitoring and prompt triggering of salvage proctectomy when tumor regrowth is observed.4,5
Source: Annals of Surgical Oncology - Category: Cancer & Oncology Source Type: research
ConclusionsOur study suggests that it is important to recognize the presence of atypical endometrial cells in Pap tests in young patients, given its association with the finding of premalignant and malignant pathology in the subsequent endometrial biopsies.
Source: Journal of the American Society of Cytopathology - Category: Cytology Source Type: research
ConclusionsThis is the first case of metastatic inguinal serous adenocarcinoma in a woman with Lynch syndrome shortly after surgical treatment of stage I endometrioid EC.
Source: Hereditary Cancer in Clinical Practice - Category: Cancer & Oncology Source Type: research
Authors: Kawashima Y, Nishikawa S, Ninomiya H, Yoshida R, Takano N, Oguri T, Kitazono S, Yanagitani N, Horiike A, Ohyanagi F, Ishikawa Y, Nishio M Abstract Lynch syndrome is caused by mutations in mismatch repair genes that lead to microsatellite instability (MSI). An increased number of mutation-associated neoantigens have been observed in patients with high-frequency MSI (MSI-H) cancer; in addition, membranous programmed death ligand-1 (PD-L1) tends to be expressed at higher levels in MSI-H cancers than in microsatellite-stable cancers. MSI-H cancer patients are therefore considered to be susceptible to immune ch...
Source: Internal Medicine - Category: Internal Medicine Tags: Intern Med Source Type: research
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