Hamartomatous Polyps Research Articles

S3169 An Unusual Cause for Persistent Anemia: Gastric Amyloidosis

Introduction: This case highlights an unusual presentation of amyloidosis and multiple myeloma which was discovered during endoscopic and histological evaluation of the gastrointestinal tract for persistent anemia. Thus, it is important to consider these underlying malignancies during work up of anemia with proper biopsies and staining. Case Description/Methods: 67 year old woman with Zenker’s diverticulum and chronic gastrointestinal symptoms attributed to IBS presented for persistent iron deficiency anemia of Hgb 10 and rectal bleeding. A 2 cm sigmoid colon Hamartomatous polyp and a 4 mm cecal tubular adenoma were resected during colonoscopy with normal terminal ileum. While rectal bleeding resolved, surveillance colonoscopy in 6 months showed no residual polyp. Due to persistent anemia despite iron replacement, she underwent an EGD which showed a grossly normal stomach and mild duodenitis. Random biopsies of antrum and duodenum showed acellular pink/amorphic matrix in lamina propria and muscularis mucosa with green birefringence on congo red staining, consistent with amyloid. The patient was referred to hematology/oncology for further work up of amyloidosis. SPEP and immunofixation showed IgA monoclonal gammopathy and free light chain assay revealed 2401.9 mg/L kappa light chains, with a kappa/lamda ratio of 343.13. UPEP showed M spike with positive Bence Jones protein, kappa type. Bone marrow biopsy revealed 13% plasma cells. Patient was diagnosed with amyloid light chain amyloidosis and multiple myeloma and began treatment with systemic chemotherapy. Later in the course, patient had recurrence of rectal bleeding. Repeat colonoscopy was normal, but EGD showed multiple small gastric ulcers which was felt to be the sequelae of gastric amyloidosis. Discussion: Gastric amyloidosis as the presenting pathology of multiple myeloma is rare. Symptoms include abdominal pain, bleeding, motility issues, and malabsorption. Endoscopic findings most commonly show ulcerations, mucosal erosions, and submucosal hematomas. Because these findings are nonspecific, it can be difficult to diagnose unless the clinician has high suspicion for the disease. In our patient’s case, the initial investigation was prompted due to persistent anemia. Unlike the typical mucosal abnormalities seen in gastric amyloidosis, our patient had grossly normal mucosa. Only after biopsies of the stomach and duodenum to rule out H. pylori and celiac disease were performed did we discover the patient had amyloidosis and ultimately multiple myeloma.

Epithelial gastric polyps

Gastric polyps are lesions projected above the mucosal surface, which are detected in approximately 1–6% of upper gastrointestinal endoscopies. Based to their shape, polyps are classified as pedunculate, semi-pedunculate, sessile and flat. Depending on the histopathological type, some of them have the potential to transform into adenocarcinoma. Polyps can be of epithelial and non-epithelial origin. The first group, which is discussed in greater detail in this paper, includes fundic gland polyps, hyperplastic, adenomatous and hamartomatous polyps. Non-epithelial polyps include stromal tumours, leiomyomas, fibrous inflammatory polyps, fibroids, fibromyomas, lipomas, ectopic pancreas, neuroendocrine tumours, neuromas, and some vascular lesions. Multiple polyps in patients under the age of 40 years require more extensive diagnosis for hereditary polyposis syndromes, which are associated with an increased risk of gastric cancer, as well as other gastrointestinal and extra-gastrointestinal malignancies. In recent years, there has been a clear decrease in the proportion of hyperplastic polyps and an increase in the proportion of fundic gland polyps among all gastric polyps, which is probably related to the increased use of proton pump inhibitors and a reduced incidence of Helicobacter pylori infections. About 90% of gastric polyps are detected accidentally and usually do not cause clinical symptoms, but large polyps may be responsible for anaemia, bloody stools, abdominal pain, and even pyloric obstruction, which may be manifested by vomiting, severe flatulence, lack of appetite or progressive weight loss.

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.

Acute intestinal obstruction in Peutz Jeghers syndrome: a case report

Peutz Jeghers syndrome is an autosomal dominant hereditary disorder affecting male and female equally. It is characterised by mucocutaneous hyperpigmentation and hamartomatous polyp in gastrointestinal tract with increased risk of malignancy. We report here a case of 52-year-old patient with traits of Peutz jeghers syndrome presented with acute intestinal obstruction following colocolic intussusception. Peutz jeghers syndrome is an autosomal dominant inherited disorder. Individual may present in rare case with acute intestinal obstruction associated with intussusception due to polyps.

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.

Double intussusception in a teenage child with Peutz-Jeghers syndrome: A case report

BACKGROUNDPeutz-Jeghers syndrome (PJS) is a genetic disorder characterized by the development of gastrointestinal hamartomatous polyps and mucocutaneous melanin pigmentation. Patients with PJS are at risk of complications such as intussusception. Intussusception is a condition where one segment of the intestine invaginates into another, causing intestinal obstruction. We report a PJS patient who was diagnosed with double intussusception in a single setting. CASE SUMMARYA 16-year-old teenage male PJS patient presented with a history of colicky abdominal pain, vomiting, blood in stools, loss of appetite, and weight loss. On abdominal examination, a vague mass was palpable over the right upper quadrant. Contrast-enhanced computed tomography (CT) of the abdomen was performed and an intussusception involving the jejunum and rectosigmoid junction was observed. The patient subsequently underwent a laparotomy and intussusception involving the jejunum and another over the ileum was noted intra-operatively. Bowel resection and an endoscopic polypectomy were performed, followed by a primary anastomosis. The patient was discharged well and reviewed again one month later, and was noted to be well.CONCLUSIONPJS patients have a high risk of intussusception and can be diagnosed accurately by endoscopic surveillance or radiologically with abdominal CT or magnetic resonance imaging. The mainstay of treatment is surgical intervention followed by endoscopic surveillance with periodic polypectomy.

Peutz Jeghers Syndrome in 47 Years Old Woman (Histopathological Review) : Case Report

Background: Peutz-Jeghers syndrome (PJS) is an autosomal dominant inherited disorder, characterizedby intestinal hamartoma polyps in association with distinct patterns of skin and mucosal macular melanindeposition. Patients with PJS have a 15-fold increased risk of developing bowel cancer compared to thegeneral population.Case: A 47-year-old woman complained of black patches appearing on the lower and upper lips. Severalmonths ago, the patient said that black patches appeared on the gums and inner cheeks. Gastrointestinalcomplaints such as nausea or vomiting were previously denied. Dermatological examination in the oriset ginggiva et buccalis region showed multiple well-defined hyperpigmented macules. Histopathologicalexamination found an increase of melanocytes in the stratum basale with rows of melanocytes. Patienthad an endoscopy in the gastrointestinal tract and histopathological examination of the colonic mucosa, noabnormalities were found and no signs of malignancy were found on histopathological examination.Conclusion: Result of histopathological examination showed an increase in the number of melanocytesin the stratum basale with lined melanocytes. Based on histopathological examination in this patient moreleads to the diagnosis of PJS

Hamartomatous polyposis syndrome associated malignancies: Risk, pathogenesis and endoscopic surveillance.

Hamartomatous polyposis syndromes (HPS) are a heterogeneous spectrum of diseases that are characterized by diffuse hamartomatous polyps lining the gastrointestinal (GI) tract together with extra-GI manifestations. Classical HPS includes juvenile polyposis syndrome, Peutz-Jeghers syndrome, PTEN hamartoma tumor syndrome and hereditary mixed polyposis syndrome. Patients with HPS have a higher risk of GI and extra-GI malignancies than the general population, although the underlying mechanisms remain unclear and are obviously different from the carcinogenesis of classical adenocarcinoma and colitis-associated malignancy. In this review we aimed to clarify the risks, possible mechanism and endoscopic surveillance of HPS-associated GI malignancies.

Peutz-Jeghers syndrome: what has been known for 125 years of research? (review)

Peutz-Jeghers syndrome (PJS) is an extremely rare autosomal dominant hereditary disease characterized by the growth of hamartomatous polyps in the gastrointestinal tract, mucocutaneous pigmented macules and an increased risk of malignant neoplasms of various localizations. In most cases the development of PJS is associated with the presence of a mutation in the STK11 gene, but not all patients have this mutation. This review presents the historical aspects of the first data on PJS, considers the clinical manifestations of the disease, current diagnostic methods, as well as recent knowledge about the genetic causes, about the risk of malignant neoplasms in patients with PJS, existing guidelines for screening and treatment of patients with PJS. However, the presence of a number of unresolved issues in genetics, monitoring and treatment indicates the need for further research.

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.

Giant hamartomatous polyp of the uterine cervix with heterologous mesenchymal tissue in a child: a case report\xa0

BackgroundPolyps of the uterine cervix are one of the most common benign hyperplastic lesions occurring in the female genital tract that usually arise from the endocervical canal and are believed to be the result of reactive changes due to long-standing chronic inflammation, multiparty, and foreign bodies. Cervical polyps are usually small in size (less than 4 cm) that are commonly found in adult women; however, a few cases of giant polyps and the rare occurrence of these lesions in children have also been reported. Heterotopias and malignant transformation in cervical polyps are considered to be very rare.Case presentationWe present the case of a 10-year-old Afghan girl with a giant pedunculated mass protruding out of the uterine cervix that was accompanied by abdominal pain and mass sensation. The mass was completely excised by surgical intervention and the specimen was submitted for histopathological evaluation. Upon gross and microscopic examination, the characteristic findings of a hamartomatous polyp with heterologous mesenchymal tissue in the form of mature cartilage were seen. To the best of our knowledge, this is the first case of a giant (17.5 cm) hamartomatous polyp of the uterine cervix in this age group.ConclusionGiant hamartomatous cervical polyps rarely occur in patients below 10 years of age. The majority of these lesions are benign; however, a few cases with malignant transformation are also reported, which demands elaborate investigations into the etiopathogenesis and nature of the lesions.

Solitary Peutz-Jeghers hamartomatous polyp in the distal jejunum treated with endoscopic mucosal resection: A case report

Solitary Peutz-Jeghers hamartomatous polyp in the distal jejunum treated with endoscopic mucosal resection: A case report

Bladder hamartoma in Peutz-Jeghers syndrome: a rare case report

BackgroundPeutz-Jeghers syndrome is an autosomal dominant disease characterized by mucocutaneous pigmentation and hamartomatous polyps in the gastrointestinal tract (GIT). There have also been cases of extra GIT polyps such as the renal pelvis, urinary bladder, lungs and nares. Bladder hamartoma is an extremely rare finding, with only 12 cases described in the literature up to now. The rarity of the condition necessitates a comprehensive compilation of managements up to now so as to provide a better tool for the treatment of such conditions in the future.Case presentationA twenty-year-old male, known to have Peutz-Jeghers syndrome, presented to us complaining of obstructive urinary symptoms. A urethrogram done showed a filling defect at the base of the urinary bladder. The mass was resected transurethrally, and histopathology revealed a hamartoma of the bladder. The patient has since remained tumor-free on follow-up.ConclusionsTransurethral resection of the bladder mass proved to be an effective therapy in this patient with no recurrence on the patient’s follow-up till now. There is still, however, a dearth of knowledge regarding the management of bladder hamartomas owing to the extreme rarity of the case.

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.

Gastrointestinal: Massive gastric juvenile polyposis.

A 46-year-old man presented with a 3-month history of fatigue and bilateral lower limb edema. His father developed colon cancer at age 30s, and his uncle has a suspected polyp discovery. Laboratory tests revealed iron deficiency anemia, hypoproteinemia, and a positive fecal immunochemical testing for occult blood. Contrast-enhanced computed tomography showed space-occupying lesions in the fundus, lesser curvature, and antrum of the stomach. Esophagogastroduodenoscopy showed massive, papillary polyposis of gastric fundus and body (Fig. 1a). Involvement was limited to the antrum, and one duodenal polypoid lesion was found. Larger polyps ranged from 30 to 40 mm in diameter (Fig. 1b), with spontaneous bleeding of some lesions. Narrow band imaging and indigo carmine dye did not reveal neoplastic micro vessels and microstructures. A few colorectal polyps were easily removed by colonoscopy, which showed features of inflammatory polyps. Enteroscopy demonstrated no bleeding in the small intestine. Piecemeal endoscopic mucosal resection was performed to deal with huge subcardial polyps with severe spontaneous bleeding. Tissue pathology confirmed a diagnosis of hamartomatous polyps without presence of dysplasia (Fig. 1c). Meanwhile, considering the family history of gastrointestinal malignancy, the patient was recommended for possible genetic testing and a heterozygous mutation in SMAD4 gene was identified. The patient exhibited a frameshift mutation in exon 11 (c.1430del:p.G477fs), leading to a premature stop codon. Finally, a diagnosis of juvenile polyposis syndrome (JPS) was proven by pathological and genetic results. Because conservative treatments and endoscopic surveillance failed to correct chronic blood loss and hypoalbuminemia, the patient finally underwent a laparoscopic total gastrectomy (Fig. 1d). The hemoglobin increased from 37 to 107 g/L, and the plasma albumin level increased from 22 to 34 g/L postoperatively. JPS is an autosomal dominant disorder with multiple juvenile polyps in the gastrointestinal tract. Gastric juvenile polyposis is rare and is most commonly associated with germline SMAD4 mutations. Unusual patterns of polyps which could mimic hyperplastic polyps make diagnosis more difficult. Typical pathological findings include the dense stroma and dilated cystic spaces. JPS should be differentiated from other diseases such as Peutz-Jeghers polyposis, Cronkhite-Canada syndrome, Ménétrier disease. Partial or total gastrectomy should be considered when high grade dysplasia occurs or when endoscopic resection may not be possible.

Solitary hamartomatous duodenal polyp in an infant

Abstract Duodenal polyps are uncommon. They are usually syndromic seen commonly with Familial adenomatosis polyposis or Peutz-Jegher's syndrome, but maybe seen as a solitary non-syndromic polyp presenting with gastrointestinal symptoms. Few cases of Solitary duodenal hamartomatous polyps have been seen in adults, but to the best of our knowledge never in an infant. We hereby report a case of a 6week old infant who presented with bilious vomiting, weight loss and dehydration. Radiological investigations revealed an obstructive duodenal polyp. Duodenotomy and excision proved curative.

Peutz-Jeghers syndrome.

Peutz-Jeghers syndrome is a rare, autosomal dominant, hereditary polyposis syndrome defined by gastrointestinal hamartomas and mucocutaneous pigmentations, caused by a germline mutation in the serine/ threonine kinase 11 or liver kinase B1 (STK11/LKB1) genes. Hamartomatous polyps located throughout the gastrointestinal tract can be complicated by bleeding and small bowel intussusception, potentially leading to the need for emergency surgery. Individuals suffering from Peutz-Jeghers syndrome have an increased lifetime risk of various forms of cancer (gastrointestinal, pancreatic, lung, breast, uterine, ovarian and testicular). Surveillance should lead to the prevention of complications and thus a reduction in mortality and morbidity of patients. A combined approach based on wireless capsule endoscopy, magnetic resonance enterography and device-assisted enteroscopy is effective in reduction of the polyp burden and thus decreasing the risk of bleeding and intussusception. Current guidelines for screening and surveillance are mostly based on expert opinion rather than evidence. Peutz-Jeghers syndrome is an emerging disease that significantly affects the quality of life enjoyed by patients. Despite of all the progress in improved early diagnostics, options for advanced endoscopic therapy and elaborate surveillance, acute and chronic complications decrease the life expectancy of patients suffering from Peutz-Jeghers syndrome.

Laparoscopic-assisted disinvagination and polypectomy for multiple intussusceptions induced by small intestinal polyps in patients with Peutz-Jeghers syndrome: a case report

BackgroundPeutz–Jeghers syndrome (PJS) is a very rare autosomal dominant genetic disorder characterized by hamartomatous polyps in the gastrointestinal tract and hyperpigmentation of the lips, hands, and feet. The hamartomatous polyps in the small intestine often cause intussusception and bleeding.Case presentationA 62-year-old male was hospitalized for treatment of deep vein thrombosis and pulmonary embolism. In the small intestine, computed tomography showed three small polyps with intussusceptions. Since the patient had gastrointestinal polyposis and pigmentation of his lips, fingers, and toes, he was diagnosed with PJS. After an inferior vena cava filter was placed, he underwent laparoscopic-assisted surgery. The polyps causing intussusception were resected as far as possible without intestinal resection, since they had caused progressive anemia and might cause intestinal obstruction in the future. The patient was discharged from the hospital on postoperative day 9 without complications.ConclusionsLaparoscopic-assisted disinvagination and polypectomy is a useful, minimally invasive treatment for multiple intussusceptions caused by small intestinal polyps in patients with PJS.

Germline testing of patients with personal history of colorectal polyposis by cancer genetics counseling services.

47 Background: National Comprehensive Cancer Network (NCCN) guidelines recommend that individuals with >10 adenomatous polyps, ≥2 hamartomatous polyps, or ≥5 serrated polyps proximal to the sigmoid colon have detailed risk assessment and potential genetic testing to rule out polyposis syndrome. Here, we describe germline testing of patients with a personal history of colorectal polyposis by Cancer Genetics Counseling Services. Methods: This is an IRB-approved retrospective chart-review study. Between 2016 and 2020, 1011 unique genetic counseling visits were conducted. Germline testing was recommended by a certified genetic counselor if medically necessary. All patients with a personal history of colorectal polyposis were identified (N=20) and their germline testing results were summarized. Results: The reasons for referral to the Cancer Genetics Counseling Services were personal history of >10 adenomatous polyps (N=13), personal and family history of colorectal polyposis (N=3), personal history of juvenile colorectal polyps (N=3) or personal history of ≥2 hamartomatous polyps (N=1). The median age is 58 years-old (1-84). Ten (50%) patients were females. Caucasians, African Americans and other ethnic backgrounds represented 80%, 10% and 10% respectively. In our cohort, 6 out of 20 (30%) patients had a pathogenic germline mutation, 5 (25%) patients had variant of unknown significance (VUS) and 9 (45%) patients had negative testing. Among patients with pathogenic germline mutations, 3 patients had a pathogenic APC mutation (APC c.1659G>A, APC c.2802C>A and APC c.1643dupT) and were diagnosed with Familial Adenomatous Polyposis (FAP). One patient had 2 pathogenic MUTYH mutations (MUTYH c.536A>G and MUTYH c.1187G>A) and was diagnosed with One patient had a pathogenic PTEN c.634+5G>A mutation and was diagnosed with PTEN Hamartoma Tumor Syndrome. Among the 3 patients with a personal history of juvenile colorectal polyps, one patient had a CHEK2 c.190G>A mutation while the other two had negative genetic test results. The VUS mutations in our cohort were MRE11A c.826C>T, BLM c.3478T>C, BRCA2 c.2519T>C, CHEK2 p.V395L and CTNNA1 c.392dupT. Conclusions: In our cohort of patients with personal history of colorectal polyposis, the majority of patients (45%) had negative germline testing. An underlying pathogenic germline mutation and VUS were identified in 30% and 25% of the patients, respectively. FAP Syndrome was the most commonly diagnosed hereditary polyposis syndrome with 3 patients found to have APC germline mutations. Other pathogenic mutations were identified in the MUTYH, PTEN and CHEK2 genes. Patients with MUTYH and PTEN mutations were diagnosed with MAP and PTEN Hamartoma Tumor Syndromes respectively.

Colorectal non-invasive epithelial lesions: pathological diagnosis of inflammatory-associated polyps and hamartomatous polyps

结直肠炎性病变相关性息肉比较常见，由于形态多样容易误诊，从而造成临床过度治疗或不必要的干预；也有些少见病变如内翻性憩室则易漏诊而延误治疗。错构瘤性息肉如多发者或出现少数特殊形态常提示患者可能有相关综合征，具较高的癌症发生危险，需要及时治疗和规范随访。.