Peutz-Jeghers Research Articles

Gastrointestinal Bleeds.

Gastrointestinal Bleeds.

S2312 Acute Gastrointestinal Bleeding Due to a Duodenal Hamartomatous Polyp: A Case Report

Introduction: The small bowel accounts for less than 4% of tumors involving the gastrointestinal (GI) tract. Benign small bowel lesions could be mucosal or submucosal. Polypoid mucosal lesions include Brunner’s glands hyperplasia, nodular lymphoid hyperplasia, adenomas, and hamartomas with 20% arising in the duodenum. Submucosal tumors include lipomas, leiomyomas, lymphangiomas and neurofibromas. We report a case of a large duodenal hamartomatous polyp causing significant occult GI bleeding, requiring blood transfusion and urgent endoscopic intervention. Case Description/Methods: A 65-year-old African American male with a history of colon cancer and right hemicolectomy, atrial fibrillation, end stage renal disease, and chronic anticoagulation with apixaban was admitted for generalized weakness and found to have a hemoglobin (Hgb) of 5.5 g/dL without report of overt GI bleeding. The patient was diagnosed with a large duodenal polyp three years prior with biopsy showing adenoma and Brunner’s gland hyperplasia. He had been referred to a tertiary center for endoscopic removal of the polyp, which was deferred due to his multiple major co-morbidities. After resuscitation and transfusion of two units of packed red blood cells, an esophagogastroduodenoscopy (EGD) was performed which showed the presence of the pedunculated polyp in the second portion of duodenum, measuring 2.5 cm in size with active oozing. The rest of the EGD was normal. Using a polyloop and injection of 2cc of 1:10,000 epinephrine into the peduncle, the polyp was resected using a snare and endocut. The final histological diagnosis of the polyp was hamartomatous polyp with features of Peutz-Jeghers polyp and areas of chronic inflammation. After resection of the duodenal polyp, the patient's Hgb returned to normal limits at follow up. Discussion: GI bleeding due to a duodenal polyp is very rare. As a result, there is limited data on the management of duodenal polyps regarding surveillance and resection. As demonstrated in this case, the polyp was initially not resected due to absence of symptoms and major comorbidities, but the patient later presented with significant bleeding requiring urgent endoscopic intervention. The case highlights the necessity of careful evaluation and resection of duodenal polyps > 1cm before they become symptomatic as in this case of acute GI bleeding.Figure 1.: Acute gastrointestinal bleeding due to a 2.5 cm pedunculated polyp, pathology consistent with hamartoma, within the second portion of the duodenum with active oozing of blood.

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.

See Spots? Look Deeper!

See Spots? Look Deeper!

A case report of Peutz-Jeghers syndrome with jejunal intussusception

A case report of Peutz-Jeghers syndrome with jejunal intussusception

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

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.

28185 Treatment of hyperpigmented labial lentigines using Q-switched Nd:YAG laser in a preadolescent patient with Peutz-Jeughers syndrome

Peutz-Jeghers syndrome (PJS) is a rare genodermatosis characterized by labial lentigines that can be stigmatizing and lead to significant and potentially lifelong consequences on patients’ quality of life. Over time, these lentigines darken and increase in number. We report a case of a 6-year-old female with PJS—the youngest pediatric patient in the literature to our knowledge—successfully treated with four Q-switched neodymium:yttrium aluminum garnet (QS Nd:YAG) 532nm with only use of topical anesthesia, LMX 4%, without any complications. With each treatment, lightening and decreased number of labial lentigines was noted with over 80% clearance after four treatment sessions. QS Nd:YAG laser treatment is safe and effective for treating preadolescent pediatric patients with labial lentigines with PJS in a clinic setting without sedation. In our patient, there has not been recurrence of lesions over a 1-year follow-up period thus far. Use of laser treatment early in a patient’s course may lead to fewer laser treatments, potential decreased recurrence of lentigines, and positive lifelong impacts on quality of life.

Two Types of Polyp Shape Observed in the Stomach of Patients with Peutz-Jeghers Syndrome.

The characteristics of gastric polyps in patients with Peutz-Jeghers (PJ) syndrome (PJS) have not been fully investigated. The objective of this study was to reveal the endoscopic and pathologic findings of gastric polyps in patients with PJS. We reviewed 11 patients with PJS treated at 6 institutions, and summarized the endo-scopic and pathologic features of their gastric polyps. The polyps were mainly classified into 2 types: (i) soli-tary or sporadic polyps > 5 mm, reddish in color with a sessile or semi-pedunculated morphology (n = 9); and (ii) multiple sessile polyps ≤ 5 mm with the same color tone as the peripheral mucosa (n = 9). Patients who underwent endoscopic mucosal resection for polyps > 5 mm were diagnosed with PJ polyps (n = 2), whereas those who underwent biopsy were diagnosed with hyperplastic polyps. Polyps ≤ 5 mm were pathologically diagnosed as fundic gland polyps or hyperplastic polyps. This study revealed that patients with PJS present with 2 types of polyps in the stomach. Endoscopic mucosal resection of polyps > 5 mm seems necessary for the pathologic diagnosis of PJ polyps.

Clinical and phenotypic variants of hereditary and sporadic colorectal cancer in young patients

Relevance: In the Republic of Kazakhstan, colorectal cancer (CRC) ranks third in the structure of oncological pathology. In 2008-2019, the CRC incidence in the Republic was growing each year. There is an upward trend in CRC incidence among young people. Cohort studies show that, in young patients, CRC is characterized by distal localization of the tumor process, advanced stages of the disease, an aggressive course, and low tumor differentiation. The known association of phenotypic signs with clinical characteristics of the disease, such as the response to therapy and survival rates, urges addressing this problem. The phenotypic and molecular genetic aspects of CRC in young people have not been systematically studied in Kazakhstan.
 The purpose of the study was to compare the phenotypic features of hereditary and sporadic colorectal cancer in young patients and patients over 65 years.
 Results: The study involved 185 patients aged 17 to 50 years (Group 1) and 112 patients aged 65 to 85 (Group 2). In Group 1, a locally advanced process (stage III) was 14.8% more often than in Group 2; stage IV was 1.23 times more common in men; and multiple primary tumors were 3.1% more often, with a prevailing metachronous course. In Groups 1 & 2, most tumors were localized in the rectum; 84.8% and 78.6% of tumors, respectively, occurred in the left half of the colon. The frequency of right-sided tumors increased with age modified by gender (in Group 2). Hereditary burdened anamnesis was detected in 14.6% patients before 50 (6.57% more than in Group 2); family history of CRC – in 4.8% patients. The latter is consistent with published data. The studied syndromic variants met the diagnostic criteria for familial adenomatous polyposis, Lynch syndrome, Peutz-Jeghers syndrome, and familial type X colorectal cancer.
 Conclusion: The increase in CRC incidence at the age of 50-70 years is explained by the effectiveness of screening. However, the upward trend for the age below 50 needs a detailed study of etiological (dietary, environmental, behavioral, hereditary) factors. Effective early diagnostics requires considering the phenotypic characteristics and hereditary history associated with a high risk of CRC onset.

Paediatric polyposis syndromes: burden of disease and current concepts.

Polyposis syndromes are rare but significant entities that often present during childhood and adolescence. Polyposis syndromes should remain high on the differential diagnoses for any child presenting with rectal bleeding, protein-losing enteropathy or intussusception in the setting of multiple polyps in the gastrointestinal tract. There are three primary paediatric polyposis syndromes: Juvenile polyposis syndrome (JPS), Familial adenomatous polyposis (FAP) and Peutz-Jeghers syndrome (PJS). This review will cover recent guidelines for these conditions and advances in genetic testing. The first set of paediatric guidelines were released in 2019 by the European Society for Pediatric Gastroenterology, Hepatology and Nutrition (ESPGHAN) for FAP, JPS and PJS. Even with advances in genetic testing, a significant proportion of patients with polyposis syndromes have no identifiable genetic mutations. Recent research has shown that polyps behave differently in patients with and without disease-causing variants, emphasizing the role of genetic testing in the diagnosis and management of polyposis syndromes. Polyposis syndromes in the paediatric population are growing due to increased recognition and advances in genetic testing. A timely diagnosis and surveillance of a paediatric polyposis syndrome are pivotal for the management of disease burden and early identification of cancers within the gastrointestinal tract and beyond. Paediatricians, paediatric gastroenterologists, paediatric oncologists and paediatric surgeons should be familiar with the presentation and comorbidities of polyposis syndromes in children and adolescents. Further research into genotype-phenotype correlations is needed to tailor the care for paediatric patients with polyposis syndromes.

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: A case report

Peutz-jeghers syndrome is a rare inherited autosomal dominant disease which is characterized by mucocutaneous pigmentation and multiple polyps in the gastrointestinal tract. We report a case of 10 years old female who was referred to us from surgical department for the evaluation of brownish pigmented macules over lips, face, palms and soles. Patient was presented with recurrent abdominal pain along with vomiting and blood mixed stool for a month. Ultrasound of abdomen revealed jejuno-jejunal intussusception for which laparotomy was done during which multiple polyps were visualized. Polypectomy was done and biopsy revealed it to be tubulovillous adenoma. Patient was diagnosed as Peutz-jeghers syndrome as there were multiple polyps in the jejunum along with the characteristics mucocutaneous involvement.

Clinical and phenotypic variants of hereditary and sporadic colorectal cancer in young patients

Relevance: In the Republic of Kazakhstan, colorectal
 cancer (CRC) ranks third in the structure of oncological pathology. In 2008-2019, the CRC incidence in the Republic
 was growing each year. There is an upward trend in CRC
 incidence among young people. Cohort studies show that,
 in young patients, CRC is characterized by distal localization of the tumor process, “late” stages of the disease, an
 aggressive course, and low tumor differentiation. The
 known association of phenotypic signs with clinical characteristics of the disease, such as the response to therapy
 and survival rates, urges addressing this problem. The phenotypic and molecular genetic aspects of CRC in young
 people have not been systematically studied in Kazakhstan.
 The purpose of the study was to compare the phenotypic features of hereditary and sporadic colorectal cancer
 in young patients and patients over 65 years.
 Results: The study involved 185 patients aged 17 to
 50 years (Group 1) and 112 patients aged 65 to 85 (Group
 2). In Group 1, a locally advanced process (stage III) was
 14.8% more often than in Group 2; stage IV was 1.23 times
 more common in men; and multiple primary tumors were
 3.1% more often, with a prevailing metachronous course.
 In Groups 1 & 2, most tumors were localized in the rectum;
 84.8% and 78.6% of tumors, respectively, occurred in the
 left half of the colon. The frequency of right-sided tumors
 increased with age modified by gender (in Group 2). Hereditary burdened anamnesis was detected in 14.6% patients
 before 50 (6.57% more than in Group 2); family history of
 CRC – in 4.8% patients. The latter is consistent with published data. The studied syndromic variants met the diagnostic criteria for familial adenomatous polyposis, Lynch
 syndrome, Peutz-Jeghers syndrome, and familial type X
 colorectal cancer.
 Conclusion: The increase in CRC incidence at the age
 of 50-70 years is explained by the effectiveness of screening. However, the upward trend for the age below 50 needs
 a detailed study of etiological (dietary, environmental,
 behavioral, hereditary) factors. Effective early diagnostics
 requires considering the phenotypic characteristics and
 hereditary history associated with a high risk of CRC onset

Difficult scientific evaluation of rare disease management: Peutz-Jeghers syndrome.

Difficult scientific evaluation of rare disease management: Peutz-Jeghers syndrome.

Hamartomatosis polyposis: Peutz-jeghers syndrome: case report and review of the literature

Hamartomatosis polyposis: Peutz-jeghers syndrome: case report and review of the literature

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.

Pancreas in Hereditary Syndromes: Cross-sectional Imaging Spectrum.

A wide spectrum of hereditary syndromes predispose patients to distinct pancreatic abnormalities, including cystic lesions, recurrent pancreatitis, ductal adenocarcinoma, nonductal neoplasms, and parenchymal iron deposition. While pancreatic exocrine insufficiency and recurrent pancreatitis are common manifestations in cystic fibrosis and hereditary pancreatitis, pancreatic cysts are seen in von Hippel-Lindau disease, cystic fibrosis, autosomal dominant polycystic kidney disease, and McCune-Albright syndrome. Ductal adenocarcinoma can be seen in many syndromes, including Peutz-Jeghers syndrome, familial atypical multiple mole melanoma syndrome, Lynch syndrome, hereditary breast and ovarian cancer syndrome, Li-Fraumeni syndrome, and familial pancreatic cancer syndrome. Neuroendocrine tumors are commonly seen in multiple endocrine neoplasia type 1 syndrome and von Hippel-Lindau disease. Pancreatoblastoma is an essential component of Beckwith-Wiedemann syndrome. Primary hemochromatosis is characterized by pancreatic iron deposition. Pancreatic pathologic conditions associated with genetic syndromes exhibit characteristic imaging findings. Imaging plays a pivotal role in early detection of these conditions and can positively affect the clinical outcomes of those at risk for pancreatic malignancies. Awareness of the characteristic imaging features, imaging-based screening protocols, and surveillance guidelines is crucial for radiologists to guide appropriate patient management. ©RSNA, 2021.