Nonfamilial Juvenile Polyposis Syndrome with Exon 5 Novel Mutation in SMAD 4 Gene

Ahmed, Amna Basheer M.; Alsaleem, Badr

doi:10.1155/2017/5321860

Cited by 4 publications

(5 citation statements)

References 7 publications

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“…The current patient had no family history of juvenile polyposis or germline mutations in the SMAD4 and BMPR1A genes but was diagnosed with juvenile polyposis of the stomach based on physical findings and histopathological features. Case reports of non-familial juvenile polyposis published in PubMed from 1985 to 2017, including the present case ( n = 12), are summarized in Table 1 [ 19 – 26 ]. In contrast to the current case, most previously reported patients were relatively young (4–18 years old) and the juvenile polyposis was restricted to the colon and/or rectum, with one case of a single polyp in the stomach [ 19 ].…”

Section: Discussionmentioning

confidence: 99%

Non-familial juvenile polyposis of the stomach with gastric cancers: a case report

et al. 2018

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BackgroundJuvenile polyposis is an autosomal dominant inherited disease characterized by the development of numerous hamartomatous and nonneoplastic polyps of the gastrointestinal tract. Juvenile polyposis has also recently been reported as a predisposition for gastrointestinal cancer.Case presentationA 63-year-old man underwent esophagogastroduodenoscopy because of anemia and hypoalbuminemia during a follow-up for gastric polyposis, which showed multiple reddish polyps and two elevated lesions in the stomach. The elevated lesions were diagnosed as well-differentiated adenocarcinomas by biopsy. He had no specific physical findings or family history. Computed tomography showed gastric wall thickening without lymphadenopathy or distant metastasis. Colonoscopy showed an adenoma in the transverse colon. He underwent laparoscopy-assisted total gastrectomy with Roux-en-Y esophagojejunostomy. The resected specimen revealed numerous variously sized non-pedunculated polyps throughout the stomach, diagnosed histopathologically as hamartomatous polyps. The two elevated lesions were diagnosed as a well-differentiated adenocarcinoma restricted to the mucosa and a well-to-poorly differentiated adenocarcinoma invading the submucosa with prominent lymphatic permeation, respectively. Genetic analysis failed to identify any germline mutations in the genes usually associated with juvenile polyposis, including SMAD4 and BMPR1A. However, based on the few characteristic physical findings and histopathological features, the final diagnosis was juvenile polyposis restricted to the stomach.ConclusionsThis patient represented a rare case of non-familial juvenile polyposis of the stomach with gastric cancers. Juvenile polyposis has malignant potential, and patients should therefore be carefully followed up. Surgical treatment, particularly total gastrectomy, is recommended as a standard treatment in patients with juvenile polyposis of the stomach with gastric cancer.

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Section: Discussionmentioning

confidence: 99%

Non-familial juvenile polyposis of the stomach with gastric cancers: a case report

et al. 2018

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“…JPS remains an exceedingly rare hamartomatous polyposis syndrome, boasting a mere incidence of one in 100,000 [ 4 ]. JPS is defined by the occurrence of five or more hamartomatous polyps, either presenting at one time or recurrent, within any region of the gastrointestinal tract [ 5 ].…”

Section: Discussionmentioning

confidence: 99%

“…JPS is usually associated with mutations in either of the two genes; namely, the genes usually implicated are BMPR1A and SMAD4, which have been linked to the TGF-B/BMP signaling pathway. The pathology can either be sporadic or familial, with an autosomal dominant inheritance pattern [ 4 ]. Nevertheless, non-familial JPS, as observed in our case, remains starkly rarer than its inherited counterpart.…”

Section: Discussionmentioning

confidence: 99%

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

Almas¹,

Hussain²,

Alsufyani³

et al. 2020

Cureus

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Juvenile polyposis syndrome is a rare inherited disorder that afflicts the gastrointestinal system. It usually occurs as a result of gene mutations; to date, several gene mutations, including those involving the bone morphogenetic protein receptor type IA (BMPR1A) gene, have been implicated in heralding the onset of the ailment. The disease is characterized by the infiltration of the gastrointestinal system with numerous hamartomas, which are predominantly benign. However, if left untreated, the hamartomas can undergo malignant transformations. Timely diagnosis and prompt surgical intervention are, therefore, imperative in portending favorable disease outcomes. We hereby delineate the case of a patient who presented with rectal prolapse and bleeding per rectum. Further diagnostic workup revealed the presence of polyps throughout the colon and the rectum, thereby insinuating a diagnosis of non-familial juvenile polyposis syndrome. The patient was managed through open surgery and continues to do well with no indications of disease recurrence.

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“…JPS was diagnosed when multiple polyps were observed in the gastrointestinal tract (caecum to rectum) on colonoscopy and CT scan of the abdomen. It was recognized as one of those cases with new sporadic mutations found in about 25-50% of the patients with JPS, which is more common than familial JPS [7].…”

Section: Discussionmentioning

confidence: 99%

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

Lakhani

Mohsin

Pirzada

et al. 2019

Cureus

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Juvenile polyposis syndrome (JPS) is a non-cancerous benign growth predominant in a young population with an estimated incidence of one in 1, 00,000 to 1, 60,000 per year. It is a rare genetic presentation, which can occur sporadically as well. There is a 39% evident risk of developing colorectal carcinoma. Herein, we present an unusual case of a 13-year-old girl from a rural area with a negative family history of juvenile polyposis, who had complaints of rectal prolapse and rectal bleeding which were more pronounced after defecation. Her contrast computed tomography (CT) scan revealed a distended large bowel studded with multiple juvenile polyps throughout, the largest of which was detected on the mid rectum. Colo-colic intussusception was also found due to a large polyp at the hepatic flexure, inferiorly extending up to ascending colon and caecum. Pan proctocolectomy with ileoanal J pouch anastomosis was performed, bearing in mind the risk for colorectal cancer and her general state of health.

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Nonfamilial Juvenile Polyposis Syndrome with Exon 5 Novel Mutation in SMAD 4 Gene

Cited by 4 publications

References 7 publications

Non-familial juvenile polyposis of the stomach with gastric cancers: a case report

Non-familial juvenile polyposis of the stomach with gastric cancers: a case report

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

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

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