BACKGROUND Adenomatous polyposis confers an increased risk of developing colorectal cancer.APC and MUTYH are the major genes investigated in patients suspected of having polyposis.In addition to APC and MUTYH genes,ot...BACKGROUND Adenomatous polyposis confers an increased risk of developing colorectal cancer.APC and MUTYH are the major genes investigated in patients suspected of having polyposis.In addition to APC and MUTYH genes,other genes,such as POLE,POLD1,NTHL1,MBD4,MSH3 and MLH3,have recently been associated with polyposis phenotypes,conferring heterogeneity in terms of the clinical,etiological and heritable aspects of patients with polyposis.AIM To investigate the underlying variant landscape in patients with suspected polyposis who lack variants in the APC and MUTYH genes using whole-exome sequencing.METHODS Twenty-seven participants were included in the study and subjected to germline whole-exome sequencing.In addition,their clinical-pathological,personal,and family history data were collected.RESULTS The mean age at diagnosis was 51 years,and most participants had attenuated forms of polyposis(88.9%),with 63.0%diagnosed with a primary tumor,mostly colorectal cancer(76.5%).Among the variants identified,17 were classified as pathogenic or likely pathogenic(in 12 participants),including variants in genes involved in the Wnt/β-catenin signaling pathway,such as ST7 L,A1CF,and DKK4,and variants in DNA-repair genes,such as NTHL1,PNKP,and PMS2,as well as a variant found at the FRK gene identified in a patient with classic polyposis at age 19 and with a family history of polyps.CONCLUSION This study identified novel genes potentially associated with polyposis in patients lacking germline pathogenic variants in the APC and MUTYH genes.These findings support the use of next-generation sequencing for screening,expanding the scope of polyposis-related variants beyond these two genes.展开更多
BACKGROUND Serrated polyposis syndrome(SPS)is a polyposis condition with neoplastic potential,but its psychological impact is not well understood.AIM To assess health anxiety prevalence in a regional Australian cohort...BACKGROUND Serrated polyposis syndrome(SPS)is a polyposis condition with neoplastic potential,but its psychological impact is not well understood.AIM To assess health anxiety prevalence in a regional Australian cohort of SPS patients and explore factors influencing it,including workforce impacts of regular surveillance.METHODS This cross-sectional study screened patients aged 18-65 undergoing colonoscopy in a regional gastroenterology practice between January 2015 and June 2022.Eligible SPS patients were invited to participate.Data included the Short Health Anxiety Inventory,employment status,and previous demographic and medical findings.RESULTS Health anxiety was found in 21.57%of SPS patients,with anxious patients being significantly more concerned about surveillance(OR=7.70).Patients lost an average of 11.04 work hours per colonoscopy.CONCLUSION Health anxiety in SPS patients aligns with rates in other gastroenterology populations.Identifying it may improve management,though further research is needed to better understand prevalence and care improvements.展开更多
BACKGROUND Familial adenomatous polyposis(FAP)is an autosomal dominant syndrome that results from a germline mutation in the adenomatous polyposis coli gene.It is characterized by the early development of hundreds of ...BACKGROUND Familial adenomatous polyposis(FAP)is an autosomal dominant syndrome that results from a germline mutation in the adenomatous polyposis coli gene.It is characterized by the early development of hundreds of adenomas in the colon during the second decade of life.If prophylactic colectomy is not performed,most patients eventually develop colorectal cancer(CRC).CASE SUMMARY We present the mutational profile of a case of FAP that progressed to CRC.A 45-year-old Saudi man presented with intestinal obstruction and underwent a total colectomy.The colon showed hundreds of polyps and two infiltrative ulcerative lesions,which proved to be adenocarcinoma according to histopathology.We performed next-generation sequencing and found mutations in the TP53,NRAS,EGFR PDGFR,MET,KIT,ERBB2,and GUSP genes.CONCLUSION To the best of our knowledge,this case report is the first to sheds the light on the mutation profile of FAP that progressed to CRC in Saudi Arabia.展开更多
This editorial discusses Thompson et al's original article,which is published in the most recent edition of the World Journal of Clinical Oncology and sheds critical light on the intertwined issues of health anxie...This editorial discusses Thompson et al's original article,which is published in the most recent edition of the World Journal of Clinical Oncology and sheds critical light on the intertwined issues of health anxiety and work loss in individuals diagnosed with serrated polyposis syndrome(SPS).SPS is rare,characterized by the development of multiple serrated colorectal polyps.This editorial provides an overview of SPS,including its pathophysiology,clinical presentation,diagnostic criteria,management strategies,and the psychosocial impact.SPS is linked to molecular alterations,which drive carcinogenesis.Colonoscopy and histological analysis are used for diagnosis.Genetic testing is also considered where there is a family history.Quality of life can be greatly impacted by the psychosocial effects of SPS,especially health anxiety.Further understanding of the molecular mechanisms and creating individualized surveillance are required.展开更多
BACKGROUND In addition to nodal lesions,over 30%of mantle cell lymphomas(MCLs)also have gastrointestinal involvement,characteristically presenting as multiple lymphomatous polyposis(MLP),which rarely involve the esoph...BACKGROUND In addition to nodal lesions,over 30%of mantle cell lymphomas(MCLs)also have gastrointestinal involvement,characteristically presenting as multiple lymphomatous polyposis(MLP),which rarely involve the esophagus.Most related papers have been case reports,and no comprehensive studies have been conducted;thus,the actual clinical situation has remained unknown for a long time.AIM To elucidate the actual clinical situation of esophageal involvement of MCL presenting with MLP,including its prognosis.METHODS From January 2001 to December 2021,among MCL patients whose gastrointestinal lesions were histopathologically confirmed by endoscopic biopsy at our center,6 patients with MLP in the esophagus were selected.We retro-spectively examined the clinical features of these patients,including their prognosis.RESULTS In all patients,multiple lesions were present in the gastrointestinal tract other than the esophagus and in the lymph nodes throughout the body,and most patients also had lesions involving the bone marrow or spleen.Most of the treatments include chemotherapy,with a 50%survival period of less than 2 years and a 5-year survival rate of approximately 30%,indicating a poor prognosis.CONCLUSION Patients with esophageal involvement of the MCL who presented with MLP had a large tumor burden and poor survival.展开更多
基金Supported by the National Oncology Care Support Program,No.25000.056766/2015-64.
文摘BACKGROUND Adenomatous polyposis confers an increased risk of developing colorectal cancer.APC and MUTYH are the major genes investigated in patients suspected of having polyposis.In addition to APC and MUTYH genes,other genes,such as POLE,POLD1,NTHL1,MBD4,MSH3 and MLH3,have recently been associated with polyposis phenotypes,conferring heterogeneity in terms of the clinical,etiological and heritable aspects of patients with polyposis.AIM To investigate the underlying variant landscape in patients with suspected polyposis who lack variants in the APC and MUTYH genes using whole-exome sequencing.METHODS Twenty-seven participants were included in the study and subjected to germline whole-exome sequencing.In addition,their clinical-pathological,personal,and family history data were collected.RESULTS The mean age at diagnosis was 51 years,and most participants had attenuated forms of polyposis(88.9%),with 63.0%diagnosed with a primary tumor,mostly colorectal cancer(76.5%).Among the variants identified,17 were classified as pathogenic or likely pathogenic(in 12 participants),including variants in genes involved in the Wnt/β-catenin signaling pathway,such as ST7 L,A1CF,and DKK4,and variants in DNA-repair genes,such as NTHL1,PNKP,and PMS2,as well as a variant found at the FRK gene identified in a patient with classic polyposis at age 19 and with a family history of polyps.CONCLUSION This study identified novel genes potentially associated with polyposis in patients lacking germline pathogenic variants in the APC and MUTYH genes.These findings support the use of next-generation sequencing for screening,expanding the scope of polyposis-related variants beyond these two genes.
文摘BACKGROUND Serrated polyposis syndrome(SPS)is a polyposis condition with neoplastic potential,but its psychological impact is not well understood.AIM To assess health anxiety prevalence in a regional Australian cohort of SPS patients and explore factors influencing it,including workforce impacts of regular surveillance.METHODS This cross-sectional study screened patients aged 18-65 undergoing colonoscopy in a regional gastroenterology practice between January 2015 and June 2022.Eligible SPS patients were invited to participate.Data included the Short Health Anxiety Inventory,employment status,and previous demographic and medical findings.RESULTS Health anxiety was found in 21.57%of SPS patients,with anxious patients being significantly more concerned about surveillance(OR=7.70).Patients lost an average of 11.04 work hours per colonoscopy.CONCLUSION Health anxiety in SPS patients aligns with rates in other gastroenterology populations.Identifying it may improve management,though further research is needed to better understand prevalence and care improvements.
文摘BACKGROUND Familial adenomatous polyposis(FAP)is an autosomal dominant syndrome that results from a germline mutation in the adenomatous polyposis coli gene.It is characterized by the early development of hundreds of adenomas in the colon during the second decade of life.If prophylactic colectomy is not performed,most patients eventually develop colorectal cancer(CRC).CASE SUMMARY We present the mutational profile of a case of FAP that progressed to CRC.A 45-year-old Saudi man presented with intestinal obstruction and underwent a total colectomy.The colon showed hundreds of polyps and two infiltrative ulcerative lesions,which proved to be adenocarcinoma according to histopathology.We performed next-generation sequencing and found mutations in the TP53,NRAS,EGFR PDGFR,MET,KIT,ERBB2,and GUSP genes.CONCLUSION To the best of our knowledge,this case report is the first to sheds the light on the mutation profile of FAP that progressed to CRC in Saudi Arabia.
文摘This editorial discusses Thompson et al's original article,which is published in the most recent edition of the World Journal of Clinical Oncology and sheds critical light on the intertwined issues of health anxiety and work loss in individuals diagnosed with serrated polyposis syndrome(SPS).SPS is rare,characterized by the development of multiple serrated colorectal polyps.This editorial provides an overview of SPS,including its pathophysiology,clinical presentation,diagnostic criteria,management strategies,and the psychosocial impact.SPS is linked to molecular alterations,which drive carcinogenesis.Colonoscopy and histological analysis are used for diagnosis.Genetic testing is also considered where there is a family history.Quality of life can be greatly impacted by the psychosocial effects of SPS,especially health anxiety.Further understanding of the molecular mechanisms and creating individualized surveillance are required.
文摘BACKGROUND In addition to nodal lesions,over 30%of mantle cell lymphomas(MCLs)also have gastrointestinal involvement,characteristically presenting as multiple lymphomatous polyposis(MLP),which rarely involve the esophagus.Most related papers have been case reports,and no comprehensive studies have been conducted;thus,the actual clinical situation has remained unknown for a long time.AIM To elucidate the actual clinical situation of esophageal involvement of MCL presenting with MLP,including its prognosis.METHODS From January 2001 to December 2021,among MCL patients whose gastrointestinal lesions were histopathologically confirmed by endoscopic biopsy at our center,6 patients with MLP in the esophagus were selected.We retro-spectively examined the clinical features of these patients,including their prognosis.RESULTS In all patients,multiple lesions were present in the gastrointestinal tract other than the esophagus and in the lymph nodes throughout the body,and most patients also had lesions involving the bone marrow or spleen.Most of the treatments include chemotherapy,with a 50%survival period of less than 2 years and a 5-year survival rate of approximately 30%,indicating a poor prognosis.CONCLUSION Patients with esophageal involvement of the MCL who presented with MLP had a large tumor burden and poor survival.
