Multiple Hamartomatous Polyps Research Articles

Current research status of Peutz-Jeghers syndrome in children

Peutz-Jeghers syndrome (PJS) is an autosomal dominant genetic disorder characterized by mucocutaneous pigmentation and multiple hamartomatous polyps, which leads to an increased susceptibility to tumors. The clinical incidence is rare, and the only currently identified pathogenic gene is the serine/threonine kinase 11/liver kinase B1 (STK11/LKB1) located on the short arm of chromosome 19 (19p13.3). This condition can lead to various complications, such as gastrointestinal bleeding, intussusception, intestinal obstruction, and malignancy. In childhood, the greatest risk is associated with intussusception, which increases the risk of surgical intervention and significantly impacts the growth, development, and quality of life of the children. This article provides an overview of the current research status regarding the clinical characteristics, etiology, pathogenesis, diagnosis, and treatment of PJS in children.

There is nothing more obscure than the obvious fact: a case report of breast cancer associated with Peitz–Jeghers syndrome

This article provides a review of studies analyzing the etiology, diagnosis, and treatment of Peitz–Jeghers syndrome, as well as the risk of cancer of different locations in patients with this genetic disorder. We report a case of Peitz–Jeghers syndrome associated with breast cancer in young women in two generations (mother and daughter). Despite specific clinical manifestations (multiple hamartomatous polyps developing in childhood and ink-black mucous pigmentation in the woman and her immediate relatives), Peitz–Jeghers syndrome was diagnosed only after breast cancer development and consultation with oncologists. This confirms the need for informing both oncologists and general practitioners about this genetic disorder.

Somatic STK11 mosaicism in a Turkish patient with Peutz-Jeghers syndrome.

Peutz-Jeghers syndrome (PJS) is an autosomal dominant disorder, caused by germline variants in the serine/threonine kinase 11 (STK11) gene. However, mosaic variants in STK11 gene have been rarely described. A 25-year-old woman diagnosed with PJS due to multiple hamartomatous polyps in the gastrointestinal tract was referred to our clinic. In the molecular diagnosis, the patient was evaluated using the STK11 gene sequence analysis and multiplex ligation-dependent probe amplification (MLPA) method, which suggested no pathogenic variant to account for the clinical picture. Given that the clinical findings of the patient were consistent with those of PJS, the raw data from next-generation sequencing (NGS) were re-examined for mosaicism which led to the detection of a novel mosaic c.920 + 1G > T variant in STK11 gene with a rate of 23% (1860x). Deep read-level NGS was performed on buccal mucosa and polyp samples to determine mosaicism levels in other tissues. Variant frequencies were 29% (710x) and 31% (1301x), respectively. Mosaicism should be considered in cases with clear clinical diagnostic criteria, such as PJS, where the pathogenic variant cannot be detected by sequence analysis and MLPA methods. Identification of mosaicism in these patients is very important as it can have an impact on patient follow-up and genetic counseling for relatives.

Preoperative multimodal ultrasonic imaging in a case of Peutz-Jeghers syndrome complicated by atypical lobular endocervical glandular hyperplasia: a case report and literature review

BackgroundPeutz-Jeghers syndrome (PJS), an autosomal dominant multiple cancerous disorder, is clinically characterized by mucocutaneous macules and multiple gastrointestinal hamartomatous polyps. Gastric-type endocervical adenocarcinoma (G-EAC), a special subtype of cervical adenocarcinoma with non-specific symptoms and signs, is known to occur in approximately 11% of female patients with PJS.Case presentationHere, we report a case of PJS in a 24-year-old female with multiple mucocutaneous black macules who complained of vaginal discharge and menorrhagia. Moreover, we first described the multimodal ultrasonographical manifestations of PJS-correlated G-EAC. The three-dimensional reconstructed view of G-EAC on 3D realisticVue exhibited a distinctive “cosmos pattern” resembling features on magnetic resonance imaging, and the contrast-enhanced ultrasound displayed a “quick-up and slow-down” pattern of the solid components inside the mixed cervical echoes. We reported the multimodal ultrasonographical characteristics of a case of PJS-related G-EAC, as well as reviewed PJS-related literature and medical imaging features and clinical characteristics of G-EAC to provide insight into the feasibility and potential of utilizing multimodal ultrasonography for the diagnosis of G-EAC.ConclusionsMultimodal ultrasound can visualize morphological features, solid components inside, and blood supplies of the G-EAC lesion and distinguish the G-EAC lesion from normal adjacent tissues. This facilitates preoperative diagnosis and staging of PJS-related G-EAC, thereby aiding subsequent health and reproductive management for patients with PJS.

A RARE CASE OF PEUTZ-JEGHERS SYNDROME PRESENTING WITH MELENA

Peutz-Jeghers Syndrome (PJS) is a rare autosomal dominant disorder characterized by hamartomatous polyps throughout the gastrointestinal tract and distinctive mucocutaneous pigmentation. We present a case of PJS in a 17-year-old male who presented with melena, which led to the discovery of multiple hamartomatous polyps in the small intestine, colon, and stomach. Despite the rarity of this syndrome, prompt recognition of its clinical manifestations, including gastrointestinal bleeding, is crucial for early diagnosis and management. This case underscores the importance of considering PJS in the differential diagnosis of patients presenting with melena, as timely intervention can prevent serious complications such as bowel ischemia and malignant transformation. Additionally, it highlights the significance of comprehensive surveillance and screening protocols for individuals with PJS to detect and manage associated malignancies and gastrointestinal complications effectively.

Clinical Guidelines for Diagnosis and Management of Juvenile Polyposis Syndrome in Children and Adults-Secondary Publication.

Juvenile polyposis syndrome (JPS) is a rare disease characterized by multiple hamartomatous polyps within the gastrointestinal tract. SMAD4 or BMPR1A is known as a causative gene of JPS. Approximately 75% of newly diagnosed cases have an autosomal-dominantly inherited condition, whereas 25% are sporadic without previous history of polyposis in the family pedigree. Some patients with JPS develop gastrointestinal lesions in childhood and require continuous medical care until adulthood. JPS is classified into three categories according to phenotypic features of polyp distributions, including generalized juvenile polyposis, juvenile polyposis coli, and juvenile polyposis of the stomach. Juvenile polyposis of the stomach is caused by germline pathogenic variants of SMAD4 with a high risk leading to gastric cancer. Pathogenic variants of SMAD4 are also associated with hereditary hemorrhagic telangiectasia-JPS complex, inducing regular cardiovascular survey. Despite growing concerns regarding the managing JPS in Japan, there are no practical guidelines. To address this situation, the guideline committee was organized by the Research Group on Rare and Intractable Diseases granted by the Ministry of Health, Labor and Welfare involving specialists from multiple academic societies. The present clinical guidelines explain the principles in the diagnosis and management of JPS with three clinical questions and corresponding recommendations based on a careful review of the evidence and involve incorporating the concept of the Grading of Recommendations, Assessment, Development, and Evaluation system. Herein, we present the clinical practice guidelines of JPS to promote seamless implementation of accurate diagnosis and appropriate management of pediatric, adolescent, and adult patients with JPS.

Esophageal squamous cell cancer with germline STK11 mutation - A possibility, a nightmare or the Peutz Jeghers Syndrome!

Background: Peutz Jeghers Syndrome (PJS) is characterized by multiple gastrointestinal hamartomatous polyps and muco-cutaneous pigmentation with increased risk of carcinomas of gastrointestinal tract, breast, lung and gynecological tumors. Only 2 % PJS have esophageal cancers, that too adenocarcinoma. So far esophageal Squamous Cell Carcinoma (SCC) has not been reported in association with PJS. We present a unique case in a young female with muco-cutaneous pigmentation who presented with esophageal SCC and was found to have germline Serine/Threonine Kinase 11 (STK11) mutation.

Adenomatous Polyposis Phenotype in BMPR1A and SMAD4 Variant Carriers.

Variants in SMAD4 or BMPR1A cause juvenile polyposis syndrome, a rare autosomal dominant condition characterized by multiple gastrointestinal hamartomatous polyps. A phenotype of attenuated adenomatous polyposis without hamartomatous polyps is rare. We describe a retrospective cohort of individuals with SMAD4 or BMPR1A heterozygous germline variants, having ≥10 cumulative colorectal adenomas and/or colorectal cancer without hamartomatous polyps. All individuals had multigene panel and duplication/deletion analysis to exclude other genetic syndromes. The study cohort included 8 individuals. The pathogenic potential of the variants was analyzed. Variants detected included 4 missense variants, 1 nonsense variant, 1 splice site variant, and 2 genomic deletions. Features of pathogenicity were present in most variants, and cosegregation of the variant with polyposis or colorectal cancer was obtained in 7 of the 8 families. Three of 8 individuals had colorectal cancer (age less than 50 years) in addition to the polyposis phenotype. Two individuals had extraintestinal neoplasms (pancreas and ampulla of Vater). The clinical phenotype of SMAD4 and BMPR1A variants may infrequently extend beyond the classical juvenile polyposis syndrome phenotype. Applying multigene panel analysis of hereditary cancer-related genes in individuals with unexplained polyposis can provide syndrome-based clinical surveillance for carriers and their family members.

Sequencing for novel mutation screening in juvenile polyposis syndrome

Juvenile polyposis syndrome (JPS), a rare polyposis syndrome in childhood, is characterized by multiple diffuse hamartomatous polyps in the gastrointestinal tract (GI) with an estimated incidence of one in 50,000 to 100,000 live births. Although a juvenile polyp is a non-cancerous lesion, affected individuals have an increased risk of GI malignancy. JPS is a disease related to loss-of-function mutations in BMPR1A and SMAD4 involved in the biological maintenance of cellular growth. Pathogenic mutations in those genes have been identified in approximately 50–60% of JPS cases. Our report describes two JPS cases with loss-of-function mutations of BMPR1A identified by a high-throughput nucleotide sequencing. Both cases had a similar clinical manifestation, symptomatic lower GI bleeding. Both patients underwent a total colectomy after histological confirmation. Consequently, Family members who had had genetic confirmation of these mutations were invited to be screened by enteroscopy. JPS is a hereditary disease caused by dominantly inherited loss-of-function of the BMPR1A and SMAD4 genes . Identifying loss-of-function mutations in particular genes allows early screening, diagnosis, and prevention of malignancy among the index cases and their families. High-throughput genome sequencing is a current molecular approach for improving the precision of mutation detection and minimizing time to diagnosis.

EP224: SMAD4-related juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome presenting as metastatic adenocarcinoma of the colon in a teenager – A case report

Juvenile polyposis syndrome (JPS, OMIM #174900) is a hereditary condition characterized by an increased risk to develop multiple hamartomatous polyps throughout the gastrointestinal tract, typically with polyps being present by 20 years of age. These polyps are at risk for malignant transformation with some estimates in the literature of around 20% incidence of colorectal cancer (CRC) by 35 years of age and close to 70% by 60 years of age. The average age of CRC diagnosis in affected individuals is between 42-44 years of age.

S2967 Small Bowel Intussusception Due to Hamartomatous Polyp Related to Peutz-Jeghers Syndrome

Introduction: Peutz-Jeghers syndrome (PJS) is a rare autosomal dominant syndrome manifested by multiple hamartomatous polyps, predominantly present in the gastrointestinal tract, and mucocutaneous pigmentation changes. Cumulative lifetime risk of intussusception in patients with PJS has been reported to be as high as 69% with 80% of the cases presenting as an acute abdomen. The median size of polyps causing intussusception is 3.5 cm. We present a case of small bowel intussusception attributed to hamartomatous polyps. Case Description/Methods: A 39-year-old male with a history of PJS and prior small bowel resection due to obstruction, presented with abdominal pain and multiple episodes of hematochezia. His hemoglobin on arrival was 6.5 g/dL, however remained hemodynamically stable with blood transfusion. CT of the abdomen and pelvis with contrast revealed a new small bowel (SB) intussusception measuring 7 cm with the intussuscipiens measuring 3.7cm [Fig. A,B]. Since the patient remained clinically stable, an enteroscopy was performed to identify the site of intussusception with possible endoscopic reduction. Multiple large small bowel polyps were identified, the largest measuring 5 cm in the jejunum, 50 cm distal to the site of anastomosis and likely lead point of the intussusception [Fig C.]. A repeat enteroscopy was performed with piecemeal resection of the large jejunal polyp with hot snare and clip placement [Fig. D]. The patient’s hematochezia and abdominal pain resolved. He was discharged with planned staged resection of remaining large SB polyps and surveillance colonoscopy. Histology of the polyps showed proliferation of smooth muscle into the lamina propria in branching pattern and normal intestinal epithelium consistent with Peutz-Jeghers hamartomatous polyp [Figure E]. Discussion: Peutz-Jeghers syndrome is associated with increased risk of both gastrointestinal and non-gastrointestinal malignancy including, but not limited to, colon, pancreas, breast, lung, and ovarian cancer. Gastrointestinal complications are related to polyps and include anemia from bleeding, intussusception, obstruction and infarction. Timely recognition and treatment is important as the complications can be fatal. Fortunately with advancements in small bowel endoscopy, these complications can be prevented and managed by endoscopic surveillance and polypectomy, reducing the need for urgent surgical intervention.Figure 1.: A. Transverse view of small bowel intussusception B. Sagittal view of small bowel intussusception C. Endoscopic view of large pedunculated polyp D. Prior site of piecemeal resected polyp with subsequent placement of clips E. Histology slide of resected polyp confirming hamartomatous polyp.

Peutz-Jeghers syndrome: Skin manifestations and endocrine anomalies (Review).

Peutz-Jeghers syndrome (PJS), a rare autosomal dominant serine/threonine kinase 11 (STK11)/ liver kinase B1 (LKB1) gene-related genodermatosis, is characterized by oral hyperpigmentation (OHP); multiple gastro-intestinal mucosal benign hamartomatous polyps causing local bleeding, occlusion, intussusception, post-resection small bowel syndrome, associated increased risk of small intestinal cancer (incidence during the third decade); and 76% cumulative higher risk than the global population of developing non-gastrointestinal tumors (female predominance) including ovarian/testicular neoplasia, pancreatic and gynecologic (breast, uterus, ovarian) cancers. Suggestive PJS-associated OHP requires STK11 genetic testing. Abdominal pain in an OHP patient may be related to PJS-associated polyps. Other features include focal depigmentation followed by hyperpigmentation, and xeroderma pigmentosum-like lesions. The severity of the dermatological findings is correlated with gastrointestinal polyps. The STK11 gene is linked to reserve of primordial follicles, polycystic ovary syndrome, female fertility, and spermatogenesis. PJS is associated with 2 types of ovarian sex-cord stroma tumors (SCSTs): annular tubules (SCTATs) and pure Sertoli cell tumors. SCSTs accounts for 8% of ovarian cancer and SCTATs represents 2% of SCST, which may be associated with the overproduction of progesterone. PJS-SCTAT vs. non-PJS-SCTAT reveals bilateral/multifocal, small tumors with a benign behavior vs. a unique ovarian, large tumor with increased malignant/metastasis risk. Male precocious puberty is due to large cell calcifying Sertoli cell tumors (LCCSCTs). Notably, 30-40% of LCCSCTs are caused by PJS or Carney complex. PJS-LCCSCT is not aggressive, but it may be bilateral/multifocal, with the ultrasound hallmark being micro-calcifications. Testicular, intra-tubular large cell hyalinizing Sertoli cell tumor is the second testicle neoplasia in PJS. The skin and mucosal lesions are useful markers of PJS, assisting with the early identification of hamartomatouspolyps and initiation of serial surveillance of ovarian, or testicular neoplasia.

Intussusception in Peutz-Jeghers Syndrome: Management of Unusual Acute Abdominal Presentation.

Peutz-Jeghers syndrome (PJS) is an autosomal dominant familial hamartomatous polyposis syndrome characterized by multiple gastrointestinal hamartomatous polyps and mucocutaneous melanin pigmentation. We report two cases, with no family history, presenting as emergency, one with perforation peritonitis due to spontaneous bowel disruption and another with bowel gangrene due to severe bowel congestion secondary to intussusception. Histological examination showed features of hamartomatous polyposis; other clinical features in these patients were suggestive of the diagnosis of Peutz-Jeghers syndrome. Given the multitude of carcinoma that these patients are susceptible to, aggressive screening protocols are recommended. Close monitoring and follow-up are essential in PJS patients for the prevention of potential complications, early detection of related malignancies due theirincreased risk for both intestinal and extraintestinal malignancies.

A novel pathogenic splice site variation in STK11 gene results in Peutz-Jeghers syndrome.

BackgroundPeutz–Jeghers syndrome (PJS) is a rare autosomal dominantly inherited disease resulting in multiple gastrointestinal hamartomatous polyps, mucocutaneous pigmentation, and an increased risk of various types of cancer, and is caused by variations in the serine/threonine protein kinase STK11 (LKB1).MethodsSTK11 gene variations were identified by analyzing STK11 cDNA and genomic DNA. Minigenes carrying the wild‐type and mutant sequences were subjected to in vitro splicing assay to dissect the features of these mutations. The different distribution of wild‐type and mutant protein in cells were tested by Immunofluorescence assays and the functional analysis of the variation were performed using Western blot.ResultsA novel heterozygous splice‐acceptor site variation (c.921‐2 A>C) in intron 7 of the STK11 gene which is co‐segregates with the PJS phenotypes in the proband and all the affected family members and three previously reported variations (c.180C>G, c.580G>A, c.787_790del) were identified in the four families. The c.921‐2 A>C substitution resulted in the inactivation of a splice site and the utilization of a cryptic splice acceptor site surrounding exon 8, generating three different aberrant RNA transcripts, leading to frameshift translation and protein truncation. The results of minigenes indicated that the spliceosome can use a variety of 3’ acceptor site sequences to pair with a given 5’ donor site. The immunofluorescent visualization showed that the distribution of mutant STK11 was different from that of wild‐type STK11, suggesting the mutation may be the causative effect on the dysfunction of the mutant protein. The rescue experiments indicated that the failure of suppressing mTOR phosphorylation by shRNA STK11 could be eliminated by supply of wild‐type STK11 rather than mutant STK11.ConclusionWe identified a novel heterozygous mutation (c.921‐2 A>C) in the STK11 in a Chinese PJS family. Haploinsufficiency of STK11 might contribute to the pathogenesis of the disease.

BMPR1A and SMAD4 mutations in juvenile polyposis syndrome: clinicopathological and genetic data from two congolese patients

BackgroundJuvenile polyposis syndrome (JPS) is a rare genetic disorder due to germline mutations in BMPR1A or in SMAD4 that are both tumor suppressor genes. The main clinical manifestation is the presence of multiple hamartomatous polyps preferentially located in gastrointestinal tract, mostly in colorectal site. The polyps can degenerate and lead to inherited malignant tumors. Materials and MethodsAmong 3157 patients with malignant and benign tumors diagnosed in Brazzaville teaching hospital, 43 persons with polyposis in colorectal tube were recruited. The positive diagnosis was based on endoscopic examination, World Health Organization and JASS guidelines clinical criteria, histopathological analysis and next-generationsequencing of DNAs extracted from peripheral blood of the patients. ResultsAmong 43 patients having polyposis, two were male patients identified with JPS representing 4.65% of polyposis and 0.06% of all tumors. Histological examination revealed typical JPS features. In those two males, whole genome comparative microarray did not identify relevant copy number imbalances. DNA sequencing of a comprehensive gene cancer genes panel identified specific mutations in the BMPR1A and SMAD4 genes. ConclusionWe have shown that BMPR1A and SMAD4 gene disorders are responsible for JPS in congolese patients as well and a novel mutation has been identified in one individual. As the condition predisposes highly to hereditary colorectal cancer, a comprehensive assessment of the JPS including genetic testing should be implemented in order to facilitate early diagnosis in Congo Brazzaville.

Peutz Jeghers Syndrome Revealed by Intestinal Intussuception: A Case Report and A Review of the Literature

Introduction: Peutz-Jeghers syndrome (PJS) is a rare autosomal inherited polyposis syndrome, characterized by multiple hamartomatous polyps in the gastrointestinal tract, associated with mucocutaneous pigmentation. Polyps mainly occur in the small intestine. Patients with PJS have an increased risk of many cancers. Histologically, the presence of a smooth muscle arborization within the lamina propria is the hallmark of those polyps. Intussusceptions is a rare complications of gastrointestinal polyps. In the present study, we report the case of this rare entity with particular histological features in a young woman who developed a jejunal obstruction caused by an intussusception.

3089 Orifice to Orifice Evaluation, in a Single Exam

INTRODUCTION: We present a case of a middle age Caucasian male with Peutz-Jeghers syndrome who underwent an antegrade double balloon enteroscopy (DBE) for surveillance of a known small bowel polyps. He has a history of right hemicolectomy for a large polyp and subsequent partial small bowel resection for intussusception of a jejunal polyp. He had a DBE a year ago which revealed several small bowel polyps, the larger ones requiring therapeutic intervention. We show a video demonstrating feasibility of complete entero-colonoscopy dictated by necessity. CASE DESCRIPTION/METHODS: A 55-year-old Caucasian male with Peutz-Jeghers syndrome presented for his surveillance antegrade DBE. He has history of right hemicolectomy & partial jejunal resection due to intussusception deemed secondary to a large hamartomatous polyp. He has been getting EGD, Colonoscopy and antegrade DBE every 2 years given his history of multiple large hamartomatous polyps. His vital signs, physical examination and lab work were unremarkable. DISCUSSION: This patient underwent antegrade DBE with a therapeutic double-balloon enteroscope (Fujinon EN-450 T5) using push and pull maneuver, under general anesthesia and utilizing CO2 for insufflation. A stiffening device (Zutron medical) was used during portions of the procedure to help prevent loop formation. Around the distal jejunum, the stiffening device snapped within the biopsy channel at the boot of the insertion tube of the enteroscope. Given that a significant amount of time has been already invested in the procedure an attempt at reaching the anus was pursued with success. The stiffening device was pushed out of the channel using a biopsy forceps and the procedure was resumed. Multiple polyps (atleast 30) were observed in the small bowel ranging in size from 4-25 mm, some of which were oozing. The oozing polyps and those larger than 10 mm (total 6) were resected. The procedure was completed with no adverse events. The patient's oral cavity was cleaned using hydrogen peroxide swab before he was extubated and sent to recovery. The patient experienced no infection related complication, bleeding, perforation or pancreatitis. CONCLUSION: 1. It is feasible and safe to perform through and through entero-colonoscopy in specific scenarios. 2. Panendoscopy in one encounter may not always be achievable in patients without a history of bowel resection. 3. Advancing the enteroscopy outside the anus may be considered to clear an obstructed biopsy channel as an option to salvage a long procedure. Watch the video: http://bit.ly/2XTDKhY

2653 Solitary Peutz-Jeghers Polyp Presenting as Iron Deficiency Anemia

INTRODUCTION: A sporadic hamartomatous polyp in the duodenum is an uncommon finding, with occurrence of solitary Peutz-Jeghers polyps only reported in singular or small case series. Typical presentation of Peutz-Jeghers type polyps occurs in patients with Peutz-Jeghers syndrome (PJS), which is a rare, autosomal-dominant disorder consisting of the simultaneous presentation of multiple hamartomatous polyps in any part of the alimentary tract and mucocutaneous pigmentation deposits [1]. We present a case of a solitary Peutz-Jeghers type polyp causing anemia found in the duodenum of a patient without any other characteristic findings of PJS. CASE DESCRIPTION/METHODS: Our patient was a 37 yo female with h/o pulmonary embolus on anticoagulation who had undergone workup of iron deficiency anemia by an outside gastroenterologist. After negative EGD and colonoscopy, a capsule enteroscopy showed a polypoid lesion in the small bowel, and she was referred for push enteroscopy. Anticoagulation had been held for the procedure. The push confirmed a 2.5 cm pedunculated polyp in the third portion of the duodenum, which was resected with snare cautery, and removed using a Roth net. No bleeding was seen, but as the patient was to resume anticoagulation, 2 hemoclips were applied to the resection site. Pathology showed Peutz-Jeghers type polyp. On follow-up the patient’s hemoglobin had returned to normal levels, confirming the polyp as the cause of anemia. DISCUSSION: Solitary PJ polyps are extremely rare and are typically found in case reports with presentation on the spectrum from asymptomatic finding to dyspepsia, abdominal pain, intussusception and melena. To our knowledge, our patient’s case consists of the first reported case of a solitary PJ-type polyp presenting solely as iron deficiency anemia.

Gastric Polyposis Syndromes

Abstract Most gastric polyps are fundic gland polyps and hyperplastic polyps. Adenomas, inflammatory fibroid polyps, and neuroendocrine tumors are other types of gastric polyps that occur less frequently. Rarely, a gastric polyp may be associated with a syndrome, including hereditary cancer syndromes. Some of these syndromes are also associated with an increased risk of gastric cancer. We present a case of a 50-year-old woman with known Cowden syndrome who presents with multiple gastric hamartomatous polyps. We then review the clinical, endoscopic, and pathologic features of various syndromes that are associated with gastric polyps. Fundic gland polyp–predominant syndromes include familial adenomatous polyposis, gastric adenocarcinoma and proximal polyposis of the stomach, and MUTYH-associated polyposis, all of which are hereditary cancer syndromes. Gastric hamartomatous polyps are found in patients with juvenile polyposis syndrome, Peutz-Jeghers syndrome, PTEN hamartoma tumor syndrome including Cowden syndrome, and Cronkhite-Canada syndrome. Syndromic gastric polyps may be biopsied in patients with a previously established diagnosis of the underlying syndrome, such as surveillance endoscopies in familial adenomatous polyposis. On other occasions, the pathologic assessment of gastric polyps may prompt or contribute to a diagnostic workup of an underlying syndrome in conjunction with other clinical and endoscopic findings.

Juvenile polyposis syndrome: a case report with colorectal adenocarcinoma in a young patient

Juvenile polyposis syndrome (JPS) is an autosomal dominant condition associated with multiple hamartomatous polyps in the gastrointestinal tract. We report a case of a 34-year-old male with no prior medical history who presented to his general practitioner with back pain. Computed tomography scanning of the abdomen and pelvis identified a mass in the sigmoid colon. Endoscopic examination revealed multiple colorectal polyps as well as a sigmoid colon lesion. The histopathology of the polyp biopsies showed the typical characteristics of juvenile polyps. The sigmoid lesion was a poorly differentiated malignancy with morphology and an immunohistochemistry profile in keeping with a primary colonic adenocarcinoma. In summary, we describe the case of a young patient with histopathology consistent with JPS and colorectal cancer at a young age.