Long QT Syndrome and Duodenal Ampullary Adenoma: A New Association

Asad-Ur-Rahman, Fnu; Hughes, Lesley; Khan, Muhammad Talha; Hasan, Muhammad; Inayat, Irteza

doi:10.14309/crj.2016.136

Cited by 3 publications

(2 citation statements)

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“…The KCNQ1 gene is highly expressed in peripheral blood leukocytes, the heart, prostate, inner ear blood vessels, stomach, small intestine, kidney, and pancreas, expressed in tissues that are critical for ion homeostasis (12,13). Humans carrying germline mutations in KCNQ1 develop a range of pathologies, most notably cardiac arrhythmia (long and short QT, Jervell and Lange-Nielsen syndrome), but also hearing loss, elevated gastrin levels, gastric hyperplasia, and in some cases gastric neoplasia (14)(15)(16)(17). These phenotypes have been modeled in KCNQ1 knockout mice which develop inner ear defects, imbalance, chronic gastritis, gastric hyperplasia, and gastric metaplasia (18).…”

Section: Introductionmentioning

confidence: 99%

Association study between KCNQ1 and KCNQ1OT1 genetic polymorphisms and gastric cancer susceptibility and survival in a Chinese Han population: a case-control study

et al. 2021

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Background: The present study analyzed gene polymorphisms in the potassium voltage-gated channel KQT-like subfamily member 1 (KCNQ1) and the long noncoding RNA, KCNQ1OT1, and their impacts on genetic susceptibility and survival in a Chinese Han population with gastric cancer (GC).Methods: We designed a case-control study that included 681 patients with GC and 756 healthy controls.Three single-nucleotide polymorphisms (SNPs) in the KCNQ1 gene region and eight SNPs in the KCNQ1OT1 gene region were selected for further research.Results: Among the 11 SNPs, we found no significant differences in the genotype and allele frequencies between GC patients and the healthy population. Hierarchical analysis by the log-additive model indicated that the KCNQ1 rs231348 CT genotype was significantly associated with an increased GC risk in individuals aged ≥55 years, regardless of gender. The KCNQ1OT1 rs231352 CC and rs7128926 AA genotypes increased the risk of GC in individuals with stage III/IV tumors larger than 5 cm in diameter. On evaluating the genotype polymorphism and survival analysis, we detected that the AA genotypes of the KCNQ1OT1 rs7128926 and rs7939976 polymorphisms presented a significant survival advantage over the GA/GG genotypes, especially in patients with the following characteristics: age >55, Helicobacter pylori infection, BMI >24, tumor in the non-cardia region with a diameter greater than 5 cm, clinical stage II, and postoperative adjuvant chemotherapy.Conclusions: Our results suggest that the KCNQ1 rs231348 and KCNQ1OT1 rs231352 polymorphisms might be independent predictors of the risk of GC susceptibility depending on certain factors, such as the age of the individual and the tumor stage and diameter. Simultaneously, genotype polymorphism of the rs7128926 and rs7939976 loci of the KCNQ1OT1 gene independently predicted the recurrence-free survival (RFS) and overall survival (OS) of GC patients.

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Section: Introductionmentioning

confidence: 99%

Association study between KCNQ1 and KCNQ1OT1 genetic polymorphisms and gastric cancer susceptibility and survival in a Chinese Han population: a case-control study

et al. 2021

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“…Ampullary adenomas, representing 5% of gastrointestinal neoplasms, are often asymptomatic and detected through upper endoscopy [ 4 ]. Symptoms of ampullary adenomas presenting with jaundice related to biliary obstruction caused by a tumor are rare [ 5 , 6 ]. Hornick et al reported that clinical jaundice was the strongest independent predictor of cancer among all ampullary tumors [ 2 ].…”

Section: Discussionmentioning

confidence: 99%

An ampullary adenoma presenting with jaundice caused by duodenal intussusception: a case report

Nojima,

Shimizu,

Hirota

et al. 2024

surg case rep

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Background Ampullary adenomas are premalignant lesions. However, biliary obstruction causing jaundice is rare. Duodenal intussusception secondary to an ampullary adenoma rarely occurs because of the fixed position of the duodenum in the retroperitoneum. Herein, we have described a rare case of ampullary adenoma with jaundice caused by duodenal intussusception. Case presentation A 40-year-old woman presenting with vomiting and yellowish discoloration of the skin was admitted to another hospital. The patient had experienced recurrent epigastric pain and vomiting for the past 18 months. Blood test results showed elevated levels of bilirubin (3.9 mg/dL), and abdominal computed tomography (CT) showed a 60-mm hypovascular mass in the third part of the duodenum and a left lateral shift of the dilated common bile duct. The patient was referred to our hospital for further evaluation. She recovered from hyperbilirubinemia spontaneously (levels of bilirubin, 1.0 mg/dL), and the CT showed a tumor shift from the third part of the duodenum to the second part and improvement of the dilated common bile duct. Hypotonic duodenography revealed a tumor that moved easily from the second to the third portion of the patient's position. Upper gastrointestinal endoscopy revealed a large papillary tumor occupying the second part of the duodenum, which was diagnosed as an adenoma through biopsy. The possibility of malignancy could not be negated owing to the presence of jaundice and an elevated carbohydrate antigen 19-9 level (76.0 U/mL). Pancreaticoduodenectomy was performed. The resected specimen showed a 60 × 40 × 40-mm pedunculated ampullary mass with submucosal elongation. The pathological examination indicated that the ampullary tumor was a high-grade intestinal adenoma. The postoperative course was uneventful, and the patient was discharged 26 days postoperatively. Conclusions This report describes a rare case of a patient with an ampullary adenoma presenting with jaundice resulting from duodenal intussusception. Owing to the possibility of a postoperative cancer diagnosis which may have caused the biliary obstruction and the difficulty in making an accurate preoperative diagnosis, it is imperative to choose the appropriate surgical procedure such as a pancreaticoduodenectomy.

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Role of ion channels in gastrointestinal cancer

Anderson¹,

Cormier²,

Scott³

2019

WJG

136

103

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In their seminal papers Hanahan and Weinberg described oncogenic processes a normal cell undergoes to be transformed into a cancer cell. The functions of ion channels in the gastrointestinal (GI) tract influence a variety of cellular processes, many of which overlap with these hallmarks of cancer. In this review we focus on the roles of the calcium (Ca2+), sodium (Na+), potassium (K+), chloride (Cl-) and zinc (Zn2+) transporters in GI cancer, with a special emphasis on the roles of the KCNQ1 K+ channel and CFTR Cl- channel in colorectal cancer (CRC). Ca2+ is a ubiquitous second messenger, serving as a signaling molecule for a variety of cellular processes such as control of the cell cycle, apoptosis, and migration. Various members of the TRP superfamily, including TRPM8, TRPM7, TRPM6 and TRPM2, have been implicated in GI cancers, especially through overexpression in pancreatic adenocarcinomas and down-regulation in colon cancer. Voltage-gated sodium channels (VGSCs) are classically associated with the initiation and conduction of action potentials in electrically excitable cells such as neurons and muscle cells. The VGSC NaV1.5 is abundantly expressed in human colorectal CRC cell lines as well as being highly expressed in primary CRC samples. Studies have demonstrated that conductance through NaV1.5 contributes significantly to CRC cell invasiveness and cancer progression. Zn2+ transporters of the ZIP/SLC39A and ZnT/SLC30A families are dysregulated in all major GI organ cancers, in particular, ZIP4 up-regulation in pancreatic cancer (PC). More than 70 K+ channel genes, clustered in four families, are found expressed in the GI tract, where they regulate a range of cellular processes, including gastrin secretion in the stomach and anion secretion and fluid balance in the intestinal tract. Several distinct types of K+ channels are found dysregulated in the GI tract. Notable are hERG1 upregulation in PC, gastric cancer (GC) and CRC, leading to enhanced cancer angiogenesis and invasion, and KCNQ1 down-regulation in CRC, where KCNQ1 expression is associated with enhanced disease-free survival in stage II, III, and IV disease. Cl- channels are critical for a range of cellular and tissue processes in the GI tract, especially fluid balance in the colon. Most notable is CFTR, whose deficiency leads to mucus blockage, microbial dysbiosis and inflammation in the intestinal tract. CFTR is a tumor suppressor in several GI cancers. Cystic fibrosis patients are at a significant risk for CRC and low levels of CFTR expression are associated with poor overall disease-free survival in sporadic CRC. Two other classes of chloride channels that are dysregulated in GI cancers are the chloride intracellular channels (CLIC1, 3 & 4) and the chloride channel accessory proteins (CLCA1,2,4). CLIC1 & 4 are upregulated in PC, GC, gallbladder cancer, and CRC, while the CLCA proteins have been reported to be down-regulated in CRC. In summary, it is clear, from the diverse influences of ion channels, that their aberrant expression and/or activity c...

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Long QT Syndrome and Duodenal Ampullary Adenoma: A New Association

Cited by 3 publications

References 10 publications

Association study between KCNQ1 and KCNQ1OT1 genetic polymorphisms and gastric cancer susceptibility and survival in a Chinese Han population: a case-control study

Association study between KCNQ1 and KCNQ1OT1 genetic polymorphisms and gastric cancer susceptibility and survival in a Chinese Han population: a case-control study

An ampullary adenoma presenting with jaundice caused by duodenal intussusception: a case report

Role of ion channels in gastrointestinal cancer

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