Research & Literature

JP-HHT phenotype in Danish patients with SMAD4 mutations.

Jelsig AM, Tørring PM, Kjeldsen AD, et al.

Clinical genetics 2016; (90(1)):55-62 doi:10.1111/cge.12693.

Juvenile Polyps in Denmark From 1995 to 2014.

Jelsig AM, Ousager LB, Brusgaard K, Qvist N

Diseases of the colon and rectum 2016; (59(8)):751-7 doi:10.1097/DCR.0000000000000634.

Malignant tumors associated with juvenile polyposis syndrome in Japan.

Ishida H, Ishibashi K, Iwama T

Surgery today 2018; (48(3)):253-263 doi:10.1007/s00595-017-1538-2.

SMAD4 gene mutation increases the risk of aortic dilation in patients with hereditary haemorrhagic telangiectasia.

Vorselaars VMM, Diederik A, Prabhudesai V, et al.

International journal of cardiology 2017; (245()):114-118 doi:10.1016/j.ijcard.2017.06.059.

Massive juvenile polyposis of the stomach in a family with SMAD4 gene mutation.

de Leon MP, Pedroni M, Viel A, et al.

Familial cancer 2019; (18(2)):165-172 doi:10.1007/s10689-018-0100-8.

Hereditary Hemorrhagic Telangiectasia with SMAD4 Mutations Is Associated with Fatty Degeneration of the Left Ventricle, Coronary Artery Aneurysm, and Abdominal Aortic Aneurysm.

Inoguchi Y, Kaku B, Kitagawa N, Katsuda S

Internal medicine (Tokyo, Japan) 2019; (58(3)):387-393 doi:10.2169/internalmedicine.1287-18.

Management of Juvenile Polyposis Syndrome in Children and Adolescents: A Position Paper From the ESPGHAN Polyposis Working Group.

Cohen S, Hyer W, Mas E, et al.

Journal of pediatric gastroenterology and nutrition 2019; (68(3)):453-462 doi:10.1097/MPG.0000000000002246.

Juvenile polyposis syndrome: A case report.

Pérez-Castilla A, Peñailillo P, Oksenberg D

International journal of surgery case reports 2019; (59()):73-75 doi:10.1016/j.ijscr.2019.04.041.

A Rare Case of Juvenile Polyposis Syndrome in a 13-year-old Girl from a Rural Area.

Lakhani M, Mohsin Z, Pirzada S, Zulfikar I

Cureus 2019; (11(4)):e4567 doi:10.7759/cureus.4567.

Successful Treatment of Juvenile Polyposis of Infancy With Sirolimus.

Busoni VB, Orsi M, Lobos PA, et al.

Pediatrics 2019; (144(2)) doi:10.1542/peds.2018-2922.

Patients with 10q22.3q23.1 recurrent deletion syndrome are at risk for juvenile polyposis.

Lecoquierre F, Cassinari K, Chambon P, et al.

European journal of medical genetics 2020; (63(4)):103773 doi:10.1016/j.ejmg.2019.103773.

Practical management of polyposis syndromes.

Patel R, Hyer W

Frontline gastroenterology 2019; (10(4)):379-387 doi:10.1136/flgastro-2018-101053.

A juvenile polyp on colonoscopy, is it premalignant?

Kumar K, Patel H, Tariq H, et al.

Clinical case reports 2019; (7(12)):2605-2606 doi:10.1002/ccr3.2561.

Collaborative Group of the Americas on Inherited Gastrointestinal Cancer Position statement on multigene panel testing for patients with colorectal cancer and/or polyposis.

Heald B, Hampel H, Church J, et al.

Familial cancer 2020; (19(3)):223-239 doi:10.1007/s10689-020-00170-9.

Disease expression in juvenile polyposis syndrome: a retrospective survey on a cohort of 221 European patients and comparison with a literature-derived cohort of 473 SMAD4/BMPR1A pathogenic variant carriers.

Blatter R, Tschupp B, Aretz S, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2020; (22(9)):1524-1532 doi:10.1038/s41436-020-0826-1.

SMAD4 mutation and the combined juvenile polyposis and hereditary hemorrhage telangiectasia syndrome: a single center experience.

McDonald NM, Ramos GP, Sweetser S

International journal of colorectal disease 2020; (35(10)):1963-1965 doi:10.1007/s00384-020-03670-3.

Juvenile polyposis syndrome-hereditary hemorrhagic telangiectasia associated with a SMAD4 mutation in a girl.

Hashimoto Y, Yokoyama K, Kumagai H, et al.

Clinical journal of gastroenterology 2020; (13(6)):1096-1101 doi:10.1007/s12328-020-01238-w.

Familial juvenile polyposis syndrome with a de novo germline missense variant in BMPR1A gene: a case report.

Liu Q, Liu M, Liu T, Yu Y

BMC medical genetics 2020; (21(1)):196 doi:10.1186/s12881-020-01135-6.

Phenotypic Differences in Juvenile Polyposis Syndrome With or Without a Disease-causing SMAD4/BMPR1A Variant.

MacFarland SP, Ebrahimzadeh JE, Zelley K, et al.

Cancer prevention research (Philadelphia, Pa.) 2021; (14(2)):215-222 doi:10.1158/1940-6207.CAPR-20-0348.

Non-familial Juvenile Polyposis Syndrome Presenting as Rectal Prolapse: An Unusual Presentation of a Rare Disease.

Almas T, Hussain S, Alsufyani R, et al.

Cureus 2020; (12(10)):e11222 doi:10.7759/cureus.11222.

mTOR inhibitors reduce enteropathy, intestinal bleeding and colectomy rate in patients with juvenile polyposis of infancy with PTEN-BMPR1A deletion.

Taylor H, Yerlioglu D, Phen C, et al.

Human molecular genetics 2021; (30(14)):1273-1282 doi:10.1093/hmg/ddab094.

Experiences with scans and scanxiety in people with advanced cancer: a qualitative study.

Bui KT, Blinman P, Kiely BE, et al.

Supportive care in cancer : official journal of the Multinational Association of Supportive Care in Cancer 2021; (29(12)):7441-7449 doi:10.1007/s00520-021-06319-1.

Case report of juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome: first report in Korea with a novel mutation in the SMAD4 gene.

Kang B, Hwang SK, Choi S, et al.

Translational pediatrics 2021; (10(5)):1369-1376 doi:10.21037/tp-21-12.

Paediatric polyposis syndromes: burden of disease and current concepts.

Phen C, Rojas I

Current opinion in pediatrics 2021; (33(5)):509-514 doi:10.1097/MOP.0000000000001044.

Sirolimus for the Treatment of Juvenile Polyposis in Childhood.

Martín-Masot R, Cardelo Autero N, Ortiz Pérez P, et al.

ACG case reports journal 2021; (8(8)):e00646 doi:10.14309/crj.0000000000000646.

Giant Gastric Folds in Juvenile Polyposis.

Leonard NB, Bronner MP

Case reports in gastroenterology 2021; (15(3)):985-993 doi:10.1159/000521125.

Polygenic Infantile Juvenile Polyposis Syndrome Managed With Sirolimus and Endoscopic Polypectomy.

Bell LD, Bernat JA, Rahhal R

Gastroenterology research 2022; (15(1)):33-38 doi:10.14740/gr1480.

Smartphone-based Ecological Momentary Assessment to study "scanxiety" among Adolescent and Young Adult survivors of childhood cancer: A feasibility study.

Heathcote LC, Cunningham SJ, Webster SN, et al.

Psycho-oncology 2022; (31(8)):1322-1330 doi:10.1002/pon.5935.

A Rare Case of Juvenile Polyposis Syndrome Mimicking Ménétrier's Disease.

Bernshteyn M, Bhutta AQ, Bordas J, et al.

Cureus 2022; (14(3)):e23389 doi:10.7759/cureus.23389.

Diagnosis and management of cancer risk in the gastrointestinal hamartomatous polyposis syndromes: recommendations from the U.S. Multi-Society Task Force on Colorectal Cancer.

Boland CR, Idos GE, Durno C, et al.

Gastrointestinal endoscopy 2022; (95(6)):1025-1047 doi:10.1016/j.gie.2022.02.044.

Diagnosis and Management of Cancer Risk in the Gastrointestinal Hamartomatous Polyposis Syndromes: Recommendations From the US Multi-Society Task Force on Colorectal Cancer.

Boland CR, Idos GE, Durno C, et al.

Gastroenterology 2022; (162(7)):2063-2085 doi:10.1053/j.gastro.2022.02.021.

Juvenile polyposis syndrome: An overview.

Dal Buono A, Gaiani F, Poliani L, Laghi L

Best practice & research. Clinical gastroenterology 2022; (58-59()):101799 doi:10.1016/j.bpg.2022.101799.

Screening for Brain Metastases in Patients With NSCLC: A Qualitative Study on the Psychologic Impact of Being Diagnosed With Asymptomatic Brain Metastases.

Schoenmaekers JJAO, Bruinsma J, Wolfs C, et al.

JTO clinical and research reports 2022; (3(10)):100401 doi:10.1016/j.jtocrr.2022.100401.

Occurrence of gastric cancer in patients with juvenile polyposis syndrome: a systematic review and meta-analysis.

Singh AD, Gupta A, Mehta N, et al.

Gastrointestinal endoscopy 2023; (97(3)):407-414.e1 doi:10.1016/j.gie.2022.10.026.

Hereditary hemorrhagic telangiectasis with juvenile polyposis syndrome: a case report.

Tao MY, Wang KY, Li X, et al.

Therapeutic advances in gastroenterology 2022; (15()):17562848221142913 doi:10.1177/17562848221142913.

Juvenile polyposis syndrome: A case report.

Mogere E, Mwaura E, Waithaka M, et al.

Clinical case reports 2023; (11(1)):e6798 doi:10.1002/ccr3.6798.

Clinical Spectrum and Science Behind the Hamartomatous Polyposis Syndromes.

Yehia L, Heald B, Eng C

Gastroenterology 2023; (164(5)):800-811 doi:10.1053/j.gastro.2023.01.026.

[A Case of Laparoscopic Total Gastrectomy for Juvenile Polyposis of Stomach with Synchronous Multiple Intramucosal Carcinomas].

Sakai J, Ono H, Otsubo K, et al.

Gan to kagaku ryoho. Cancer & chemotherapy 2022; (49(13)):1699-1701.

Whole genome sequencing and disease pattern in patients with juvenile polyposis syndrome: a nationwide study.

Jelsig AM, van Overeem Hansen T, Gede LB, et al.

Familial cancer 2023; (22(4)):429-436 doi:10.1007/s10689-023-00338-z.

Genotype-phenotype correlation of BMPR1a disease causing variants in juvenile polyposis syndrome.

Papadopulos ME, Plazzer JP, Macrae FA

Hereditary cancer in clinical practice 2023; (21(1)):12 doi:10.1186/s13053-023-00255-3.

Cancer risk and mortality in patients with solitary juvenile polyps-A nationwide cohort study with matched controls.

Jelsig AM, Wullum L, Kuhlmann TP, et al.

United European gastroenterology journal 2023; (11(8)):745-749 doi:10.1002/ueg2.12441.

SMAD4 variants and its genotype-phenotype correlations to juvenile polyposis syndrome.

Cao K, Plazzer JP, Macrae F

Hereditary cancer in clinical practice 2023; (21(1)):27 doi:10.1186/s13053-023-00267-z.

The c.386A>C p.(Asn129Thr) variant in SMAD4 is likely to be pathogenic, causing Juvenile Polyposis Syndrome. A case report of a mosaic variant.

Valentín F, de Tejada AH, Gonzaléz-Vioque E, et al.

Molecular genetics & genomic medicine 2024; (12(1)):e2348 doi:10.1002/mgg3.2348.

Juvenile polyposis syndrome with gastric and duodenal polyposis presenting with refractory anemia and protein-leakage gastroenteropathy in a patient with SMAD4 mutation: a case report.

Nakamura K, Kubota K, Shimizu A, et al.

Surgical case reports 2024; (10(1)):11 doi:10.1186/s40792-023-01796-4.

Pathology of Gastrointestinal Polyposis Disorders.

Rosty C, Brosens LAA

Gastroenterology clinics of North America 2024; (53(1)):179-200 doi:10.1016/j.gtc.2023.09.006.

Scanxiety and quality of life around follow-up imaging in patients with unruptured intracranial aneurysms: a prospective cohort study.

Kamphuis MJ, van der Kamp LT, van Eijk RPA, et al.

European radiology 2024; (34(9)):6018-6025 doi:10.1007/s00330-024-10602-0.

Updated European guidelines for clinical management of familial adenomatous polyposis (FAP), MUTYH-associated polyposis (MAP), gastric adenocarcinoma, proximal polyposis of the stomach (GAPPS) and other rare adenomatous polyposis syndromes: a joint EHTG-ESCP revision.

Zaffaroni G, Mannucci A, Koskenvuo L, et al.

The British journal of surgery 2024; (111(5)) doi:10.1093/bjs/znae070.

Deciphering the clinical spectrum of gastric disease in patients with juvenile polyposis syndrome.

Muller M, Baldysiak E, Benech N, et al.

Gastrointestinal endoscopy 2024; (100(5)):867-877 doi:10.1016/j.gie.2024.05.015.

Juvenile polyposis syndrome in children: The impact of SMAD4 and BMPR1A mutations on clinical phenotype and polyp burden.

Cohen S, Yerushalmy-Feler A, Rojas I, et al.

Journal of pediatric gastroenterology and nutrition 2024; (79(1)):161-167 doi:10.1002/jpn3.12257.

Pediatric Cancer Screening in Hereditary Gastrointestinal Cancer Risk Syndromes: An Update from the AACR Childhood Cancer Predisposition Working Group.

MacFarland SP, Becktell K, Schneider KW, et al.

Clinical cancer research : an official journal of the American Association for Cancer Research 2024; (30(20)):4566-4571 doi:10.1158/1078-0432.CCR-24-0953.

Surveillance-Associated Anxiety After Curative-Intent Cancer Surgery: A Systematic Review.

Khatri R, Quinn PL, Wells-Di Gregorio S, et al.

Annals of surgical oncology 2025; (32(1)):47-62 doi:10.1245/s10434-024-16287-5.

Clinical Assessment and Genetic Testing for Hereditary Polyposis Syndromes in an Italian Cohort of Patients with Colorectal Polyps.

Fasano C, Cariola F, Forte G, et al.

Cancers 2024; (16(21)) doi:10.3390/cancers16213617.

Overlap syndrome of hereditary hemorrhagic telangiectasia and juvenile polyposis syndrome: ten years follow-up-case series and review of literature.

Gonzalez ML, Vazquez C, Argüero MJ, et al.

Familial cancer 2024; (24(1)):1 doi:10.1007/s10689-024-00425-9.

Prevalence and Incidence of Peutz-Jeghers Syndrome and Juvenile Polyposis Syndrome in Japan: A Nationwide Epidemiological Survey in 2022.

Matsubara Y, Nakamura Y, Nakayama Y, et al.

Journal of gastroenterology and hepatology 2025; (40(2)):473-481 doi:10.1111/jgh.16839.

Adult juvenile polyp bleeding detected by extravascular contrast leakage and treated with endoscopic clipping: A case report.

Kataoka F, Nakanishi T, Araki H, et al.

World journal of gastrointestinal endoscopy 2025; (17(2)):101135 doi:10.4253/wjge.v17.i2.101135.

Prevalence, severity, and modifiable predictors of scanxiety in patients undergoing routine oncologic imaging: a prospective longitudinal study.

Shah MS, Memon JA, Malik U, et al.

Clinical imaging 2025; (128()):110634 doi:10.1016/j.clinimag.2025.110634.

Improvement in Protein-Losing Gastroenteropathy Due to Gastric Polyposis by Laparoscopic Total Gastrectomy: A Case Report.

Mizuno M, Saito T, Nakai S, et al.

Surgical case reports 2025; (11(1)) doi:10.70352/scrj.cr.25-0407.

Parents' perspectives of non-informative germline genetic testing in children with Juvenile Polyposis Syndrome.

Rud K, Smith-Simmer K, Weiss J, Garcia K

Journal of genetic counseling 2025; (34(6)):e70140 doi:10.1002/jgc4.70140.