Hamartomatous polyps:Diagnosis,surveillance,and management

Hereditary polyposis syndrome can be divided into three categories:Adenomatous,serrated,and hamartomatous polyps.Hamartomatous polyps,malformations of normal tissue presenting in a disorganized manner,are characterized by an autosomal dominant inheritance pattern.These syndromes exhibit hamartomatous gastrointestinal polyps in conjunction to extra-intestinal manifestations,which require conscientious and diligent monitoring.Peutz-Jeghers syndrome,Cowden syndrome,and juvenile polyposis syndrome are the most common displays of hamartomatous polyposis syndrome(HPS).Diagnosis can be pursued with molecular testing and endoscopic sampling.Early identification of these autosomal dominant pathologies allows to optimize malignancy surveillance,which helps reduce morbidity and mortality in both the affected patient population as well as at-risk family members.Endoscopic surveillance is an important pillar of prognosis and monitoring,with many patients eventually requiring surgical intervention.In this review,we discuss the diagnosis,surveillance,and management of HPS.

Extensively infarcted giant solitary hamartomatous polyp treated with endoscopic full-thickness resection:A case report

BACKGROUND Solitary hamartomatous polyps(SHPs)are rare lesions.Endoscopic full-thickness resection(EFTR)is a highly efficient and minimally invasive endoscopic procedure that benefits from complete lesion removal and high safety.CASE SUMMARY A 47-year-old man was admitted to our hospital after experiencing hypogastric pain and constipation for over fifteen days.Computed tomography and endoscopy revealed a giant pedunculated polyp(approximately 18 cm long)in the descending and sigmoid colon.This is the largest SHP reported to date.Having considered the condition of the patient and mass growth,the polyp was removed using EFTR.CONCLUSION On the basis of clinical and pathological evaluations,the mass was considered an SHP.

Large gastric hamartomatous inverted polyp accompanied by advanced gastric cancer:A case report

BACKGROUND Gastric hamartomatous inverted polyps(GHIPs)are benign polyps of the gastric submucosal layer.Currently there are 52 reported cases in the English literature.According to a literature review,approximately 27%of GHIPs show a coexisting carcinoma.CASE SUMMARY A 66-year-old man was referred to our institution with ulcerative lesions detected on esophagogastroduodenoscopy(EGD)during a regular check-up.Other medical findings were nonspecific.The lesions had borderline histologic features that could not exclude malignancy and were followed up with three EGDs and biopsies at intervals of 3 mo.The latest biopsy was revealed as an adenocarcinoma.A total gastrectomy was performed to remove the tumor.The surgical specimen revealed a 6.9 cm×4.5 cm sized GHIP with a coexisting 1.6 cm sized well-differentiated adenocarcinoma which extended to the muscularis propria.The malignancy did not originate from the GHIP but showed an overlap.CONCLUSION A large GHIP,which was unusually presented as an ulcerative lesion,was surgically removed,and was accompanied by advanced gastric cancer.Regular follow-up and thorough examinations of ulcerative lesions with equivocal biopsy have resulted in appropriate diagnosis and treatment.Therefore,aggressive intervention may be beneficial if GHIP is suspected.

Two rare gastric hamartomatous inverted polyp cases suggest the pathogenesis of growth

Gastric hamartomatous inverted polyps(GHIP)are difficult to diagnose accurately because of inversion into the submucosal layer.GHIP are diagnosed using the pathological characteristics of the tumor,including the fibroblast cells,smooth muscle,nerve components,glandular hyperplasia,and cystic gland dilatation.Although Peutz-Jeghers syndrome,juvenile polyposis,and Cowden disease are hereditary,it is rare to encounter 2 cases of monostotic and asymptomatic gastric hamartomas.The pathogeneses of hamartomatous inverted polyps and inverted hyperplastic polyps remain controversial because of the paucity of reported cases.There are 3 hypotheses regarding the pathogenesis of complete gastric inverted polyps.Based on our experience with 2 successive,rare GHIP cases,we affirm the hypothesis that after a hamartomatous change occurs in the submucosal layer,some of these components are exposed to the gastric mucosa and,consequently,form a hypertrophic lesion.In Case 1,our hypothesis explains why a tiny hypertrophic change was first detected on the top of the submucosal tumor using a detailed narrow band imaging-magnified endoscopy.There was no confirmation that the milky white mucous and calcification structures were exuding directly from the biopsy site like Case 1,and in Case 2 the presence of this mucous was indirectly confirmed during an endoscopic submucosal dissection(ESD).Regarding the pathogenesis of GHIP,a submucosal hamartomatous change may occur prior to the growth of hypertrophic portions.An en bloc resection using ESD is recommended for treatment.

Solitary Peutz-Jeghers-type appendiceal hamartomatous polyp growing into the terminal ileum

Solitary Peutz-Jeghers type hamartomatous polyp is rare.It is considered to be related to a variant PeutzJeghers syndrome(PJS)and may be a separate disease entity.A 50-year-old man was referred to our hospital with a diagnosis of intussusception in the terminal ileum and underwent segmental ileal resection with appendectomy.We identified a 3.5-cm diameter polyp arising from the appendix with ingrowth into the terminal ileum.The polyp was confirmed to be a hamartomatous polyp of Peutz-Jeghers-type,histologically.However,the patient had no characteristic manifestations of PJS such as mucocutaneous pigmentation and family history.There are few reports of appendiceal hamartomatous polyp in PJS patients and solitary appendiceal hamartomatous polyp is even rarer.Also,rather than telescoping,ours is the first reported intussuscepted lesion,to the best of our knowledge.

Two Ectopic Hamartomatous Thymomas of Suprasternal Region of the Neck in A Single Patient:A Case Report

Ectopic hamartomatous thymoma is a rare,generally benign neoplasm that mainly arises in the lower neck region and is yet to be completely understood.Herein,we describe a case with two separate and sequential growing neoplasms for the first time,distinguished from other reported solitary cases.A 58-year-old Chinese male presented with a 6-month history of two nontender,self-palpated masses in the suprasternal region of his neck.Physical examination revealed two masses with diameters of 5 cm and 2 cm.Ultrasound examination 2 years ago revealed a hyperechoic mass with a fat-derived possibility.These two neoplasms were clinically diagnosed as lipomas without other radiological examinations and were completely excised.Microscopically,they were well circumscribed and characterized by admixture with spindle cells,epithelial nests,and adipocytes in variable amounts,without atypia or mitotic activity.Immunohistochemical staining revealed that both neoplasms showed a biphasic pattern,with an epithelial nature with strong and diffuse positive expression of cytokeratin(CK)and myoepithelial differentiation with CK5/6 and p63 positivity in the spindle cells.There was no evidence of recurrence after a 28-month follow-up period.In this report,we present a unique case of ectopic hamartomatous thymoma to show the existence of multiple tumors in this rare disease.We hope to raise the awareness of the possibility of this disease when the tumor rises in typical lower neck regions,especially when mixed soft tissue or fat components are shown by imaging examination.

Dual primary gastric and colorectal cancer:The known hereditary causes and underlying mechanisms

In this editorial,I commented on the paper by Lin et al,published in this issue of the World Journal of Gastrointestinal Oncology.The work aimed at analysing the clinicopathologic characteristics and prognosis of synchronous and metachronous cancers in patients with dual primary gastric and colorectal cancer(CRC).The authors concluded the necessity for regular surveillance for metachronous cancer during postoperative follow-up and reported the prognosis is influenced by the gastric cancer(GC)stage rather than the CRC stage.Although surveillance was recommended in the conclusion,the authors did not explore this area in their study and did not include tests used for such surveillance.This editorial focuses on the most characterized gastrointestinal cancer susceptibility syndromes concerning dual gastric and CRCs.These include hereditary diffuse GC,familial adenomatous polyposis,hereditary nonpolyposis colon cancer,Lynch syndrome,and three major hamartomatous polyposis syndromes associated with CRC and GC,namely Peutz-Jeghers syndrome,juvenile polyposis syndrome,and PTEN hamartoma syndrome.Careful assessment of these syndromes/conditions,including inheritance,risk of gastric and colorectal or other cancer development,genetic mutations and recommended genetic investigations,is crucial for optimum management of these patients.

Ileal collision tumor associated with gastrointestinal bleeding: A case report and review of literature

BACKGROUND Collision tumors involving the small intestine,specifically the combination of a hamartomatous tumor and a lipoma,are extremely rare.To our knowledge,no previous case report has described a collision tumor composed of two benign tumors of different origins in the small intestine.CASE SUMMARY Here,we present the case of an 82-year-old woman who presented with hemorrhagic shock and was found to have a mass measuring approximately 50 mm×32 mm×30 mm in the terminal ileum.Based on computed tomography scan findings,the mass was initially suspected to be a lipoma.A subsequent colonoscopy revealed a pedunculated submucosal elevation consisting of two distinct parts with a visible demarcation line.A biopsy of the upper portion suggested a juvenile polyp(JP).Owing to the patient’s advanced age,multiple comorbidities,and poor surgical tolerance,a modified endoscopic submucosal dissection was performed.Histopathological examination of the excised mucosal mass revealed a lipoma at the base and a JP at the top,demonstrating evidence of rupture and associated bleeding.The patient’s overall health remained satisfactory,with no recurrence of hematochezia during the six-month follow-up period.CONCLUSION This case report provides new evidence for the understanding of gastrointestinal collision tumors,emphasizing their diverse clinical presentations and histopathological characteristics.It also offers diagnostic and therapeutic insights as well as an approach for managing benign collision tumors.

Ectopic hamartomatous thymoma： radiographic and clinicopathological features

Ectopic hamartomatous thymoma （EHT） is a very rare benign neoplasm. The histogenesis of EHT remains unclear. It was firstly described by Smith et aF in 1982 and was named EHT by Rosai et al2 in 1984. Since then dozens of cases have been reported. We herein report one case of EHT, describing the magnetic resonance （MR） findings correlated with its clinicopathological features, and reviewed literatures.

Cronkhite-Canada Syndrome:an unusual finding of gastro-intestinal adenomatous polyps in a syndrome characterized by hamartomatous polyps

Cronkhite-Canada syndrome is a rare,hamartomatous polyposis syndrome of unknown etiology.Hamartomatous gastrointestinal polyps,alopecia,onychodystrophy,cutaneous hyperpigmentation,abdominal pain,diarrhea,and complications of weight loss are typical of the syndrome.In this report,we describe a pathological finding of colonic adenomatous polyposis as opposed to hamartomatous polyposis.We also describe our treatment,long-term therapeutic plan,and the need for further research.

Splenic lymphangioma masquerading as splenic abscess managed by laparoscopic splenectomy: A case report

BACKGROUND Primary benign splenic tumours are unique and account for<0.007%of all tumours identified during surgery and autopsy.Splenic lymphangiomas are rarely seen in adults.Splenic lymphangiomas may be asymptomatic,or may present with upper left abdominal pain,splenomegaly,hypersplenism,or splenic rupture with haemorrhagic shock.The clinical and radiological features of these lesions are not specific.This case report serves to remind the clinician to consider the rare but important differential diagnosis of splenic lymphangioma while treating splenic lesions.CASE SUMMARY We report a case of splenic lymphangioma in a 22-year-old woman who presented with left upper quadrant abdominal pain for three months.Initial investigations were unremarkable;however,computed tomography later revealed multiple splenic micro-abscesses.The patient underwent laparoscopic splenectomy,and histopathological examination revealed splenic lymphangioma.The patient was discharged on postoperative day three.One month after surgery,the abdominal pain resolved completely,with no new complaints.Splenic lymphangiomas present clinically as splenomegaly or left upper quadrant abdominal pain;prompt intervention is necessary for avoiding complications.CONCLUSION This case report concludes that splenic lymphangiomas should be considered in the differential diagnosis of splenomegaly or left upper quadrant pain,even in adults,because they are amenable to curative treatment.Delays in surgical intervention may lead to severe complications,such as infection,rupture,and hemorrhage.Such lesions can be safely managed with laparoscopy,involving less postoperative pain and early patient discharge with excellent cosmetic outcomes.

Novel serine/threonine kinase 11 gene mutations in PeutzJeghers syndrome patients and endoscopic management

AIM:To explore mutations in serine/threonine kinase 11(STK11) gene in Peutz-Jeghers syndrome(PJS) with gastrointestinal(GI) hamartomatous polyps.METHODS:Six Japanese PJS patients in 3 families were enrolled in this study.Each of the cases had hamartomatous polyposis in the gastrointestinal tract,including the small intestine,along with mucocutaneous hyperpigmentation.Narrow-band imaging(NBI)-magnification endoscopy was employed to detect microvascular and microsurface irregularities in the GI lesions.NBI magnification findings could be classified into three groups(type A,type B,or type C).Endoscopic polypectomy was performed using double-balloon enteroscopy or colonoscopy.Genomic DNA was extracted from a whole blood sample from each subject.All of the coding exons of STK11 gene,its boundary regions,and the promoter region containing the polymorphic regions were amplified by polymerase chain reaction,and direct sequencing was performed to assess the germline mutations.RESULTS:NBI-magnification endoscopic observation could detect the abnormalities in microvessels and microsurface structures of GI polyps.Overall,we found 5 cases of type A and one case without the examination for the gastric polyps,while there were 4 cases of type B and 2 case of type A for the colorectal polyps.Seventy-nine small-bowel and 115 colorectal polyps over 27 sessions for each were resected endoscopically without significant complications.The only delayed complication included the occurrence of bleeding in a case,and this was successfully managed with hemoclips.Resected polyps contained no malignant components.Based on mutation analysis,all 3 cases in Family I exhibited the +658C>T nonsense mutation in exon 5,which resulted in the production of a truncated protein(Q220X).In Family II,a case had-252C>A and-193C>A in the promoter region.In Family III,a case was found to have the +1062C>G(F342L) mutation in exon 8.CONCLUSION:We found two novel mutations of STK11 in association with PJS.Endoscopic polypectomy of GI polyps in PJS patients appears to be useful to prevent emergency laparotomies and reduce the cancer risk.

Cronkhite-Canada Syndrome: A Case Report and Literature Review of Gastrointestinal Polyposis Syndrome

Cronkhite-Canada syndrome (CCS) is a rare, non-inherited polyposis syndrome, characterized by diffuse gastrointestinal (GI) hamartomatous polyposis with unique dermatologic changes including alopecia, skin hyperpigmentation, and nail dystrophy. Patients can typically present with diarrhea, weight loss, protein-losing enteropathy, and nutritional deficiency. However, it can demonstrate diverse other clinical features, usually with poor prognosis. Currently, there are no specific diagnostic criteria established yet. The etiology of CCS is still obscure, but an autoimmune process has been suggested. Here we present an 81-year-old Caucasian female who had clinical presentations, physical exam, imaging, endoscopy and pathology findings that were all consistent with the diagnosis of CCS. We also include a detailed literature review of the other gastrointestinal polyposis syndromes (hamartomatous, adenomatous, hyperplastic and inflammatory polyposis). A high index of suspicion and recognition of the characteristic clinical, endoscopic as well as histopathological findings of CCS, as well as different gastrointestinal polyposis conditions, can help clinicians with more timely and correct diagnosis.

Adult Intussusception in Patients with Peutz-Jeghers Syndrome: Case Series and Review of Literature

Background: Peutz-Jeghers syndrome (PJS) is a rare autosomal dominant disorder characterized by gastrointestinal hamartomatous polyps and mucocutaneous pigmentations in the mouth, facial skin, hands & feet. Small bowel obstruction, intussusception, bleeding, intestinal and extra-intestinal malignancies are the major complications of PJS. The aim of this study is to analyze the clinical characteristics, preoperative diagnosis, and surgical management of PJS associated-intussusception in adults. Patients and Methods: This study included 5 cases with intussusception in PJS patients presented to Surgical Oncology Unit, General Surgery Department, Tanta University Hospital, Egypt and Hamad General Hospital, Hamad Medical Corporation, Qatar, between October 2011 and March 2016. Patients’ demographics were collected. After thorough clinical examination, abdominal X-ray, US, & CT scan were done. All the patients were submitted to midline laparotomy with resection anastomosis of the affected bowel segment. Results: The mean age was 28.4 years. Female: male ratio was 3:2. Abdominal pain was the most common presenting complaint with or without intestinal obstruction manifestations. Palpable abdominal mass was found in 3 patients (60%). Intussusception was proved pre-operatively in all the cases by abdominal ultrasound and CT scan. The intussusception was found in the jejunum in 3 patients, ileum in 1 patient, & in 1 patient, there was double intussusception (one jejunal & one ileo-cecal). Histopathological examination revealed the presence of typical Peutz-Jeghers hamartomatous polyp. No morbidity or mortality was reported at a mean follow-up period of 32 months. Conclusion: Family history, physical examination, abdominal ultrasound and CT scan were important in the diagnosis of acute intussusception caused by PJS. Surgical management of PJS associated intussusception is the recommended treatment to relieve patient’s symptoms and to avoid missing underlying malignancy. Patients with PJS should be followed up throughout their lives because of the increased risk of malignant changes.

Young patient with juvenile polyposis syndrome: A case report

A case is reported here of juvenile polyposis in a 15- year-old girl. She was diagnosed upon the assessment of the dysenteric syndrome. Coloscopy and gastro- scopy had shown polyps of variable size whose histological study confirmed the hamartomatous character typical of the youthful non adenomatous polyps free of dysplasia. There was no localization in the small bowel. Coloprotectomy with ileoanal anastomosis was carried out in view of the importance of diarrhoea and the impacts on the general state of health.