scholarly journals Peutz-Jeghers Syndrome With Diffuse Gastrointestinal Polyposis: Three Cases in a Family With Different Manifestations and No Evidence of Malignancy During 14 Years Follow Up

2015 ◽  
Vol 17 (12) ◽  
Author(s):  
Esfandiar Matini ◽  
Hooman Houshangi ◽  
Ehsan Jangholi ◽  
Pantea Farjad Azad ◽  
Reza Najibpour ◽  
...  
Keyword(s):  
Gastrointestinal Polyposis ◽  
Peutz Jeghers Syndrome

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

2021 ◽  
Vol 27 (1) ◽  
Author(s):  
Jai Kumar ◽  
Mohammad Irfaan Albeerdy ◽  
Nadeem Ahmed Shaikh ◽  
Abdul Hafeez Qureshi
Keyword(s):  
Urinary Bladder ◽  
Filling Defect ◽  
Hamartomatous Polyps ◽  
Case Presentation ◽  
Rare Case Report ◽  
Mucocutaneous Pigmentation ◽  
Dominant Disease ◽  
Peutz Jeghers Syndrome ◽  
Comprehensive Compilation

Abstract Background Peutz-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 presentation A 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. Conclusions Transurethral 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.

scholarly journals Appendiceal cancer leading to intussusception detected incidentally during follow-up for Peutz–Jeghers syndrome

2020 ◽  
Vol 13 (6) ◽  
pp. 1136-1143
Author(s):  
Kazuhiro Kurihara ◽  
Takanori Suganuma
Keyword(s):  
Malignant Tumors ◽  
Endoscopic Examination ◽  
Autosomal Dominant Disorder ◽  
Tomography Image ◽  
Elevated Lesion ◽  
Poorly Differentiated ◽  
Lower Endoscopy ◽  
Peutz Jeghers Syndrome ◽  
Computed Tomography Image

AbstractPeutz–Jeghers syndrome is an autosomal dominant disorder characterized by hamartomatous polyposis, pigmentation, and malignant tumors. We report a case of ileocecal carcinoma that was incidentally detected during follow-up for Peutz–Jeghers syndrome. A 39-year-old man with solitary Peutz–Jeghers syndrome had undergone three abdominal surgeries. He had been followed up via upper and lower gastrointestinal endoscopy and small intestinal endoscopy. In the endoscopic examination of the lower gastrointestinal tract, a 35 mm large, bumpy, elevated lesion was observed in the cecum. This lesion was not observed 9 months earlier during lower endoscopy. Biopsy of the specimen confirmed tubulovillous adenoma and carcinoma. This lesion was judged to be an indication for operation, and we performed ileocecectomy + D3 lymph node dissection. From the excised specimen, poorly differentiated carcinoma and adenoma components in contact with Peutz–Jeghers-type polyps in the appendix were recognized. A review of the computed tomography image obtained 2 years ago confirmed appendiceal swelling. We suspect that the ileocecal carcinoma in the appendix may have rapidly developed within the 9 months, and was incidentally detected on lower endoscopic examination during follow-up. For the prevention of appendicular tumorigenesis, prophylactic appendectomy may be considered in certain cases during follow-up for Peutz–Jeghers syndrome.

LKB1 deficiency in T cells promotes the development of gastrointestinal polyposis

Science ◽  
2018 ◽  
Vol 361 (6400) ◽  
pp. 406-411 ◽  
Author(s):  
M. C. Poffenberger ◽  
A. Metcalfe-Roach ◽  
E. Aguilar ◽  
J. Chen ◽  
B. E. Hsu ◽  
...  
Keyword(s):  
T Cells ◽  
Cancer Progression ◽  
Immune Cell ◽  
Inflammatory Factors ◽  
Gastrointestinal Polyposis ◽  
Cancer Predisposition Syndrome ◽  
Stat3 Signaling ◽  
Liver Kinase B1 ◽  
Peutz Jeghers Syndrome ◽  
Transcription 3

Germline mutations in STK11, which encodes the tumor suppressor liver kinase B1 (LKB1), promote Peutz–Jeghers syndrome (PJS), a cancer predisposition syndrome characterized by the development of gastrointestinal (GI) polyps. Here, we report that heterozygous deletion of Stk11 in T cells (LThet mice) is sufficient to promote GI polyposis. Polyps from LThet mice, Stk11+/− mice, and human PJS patients display hallmarks of chronic inflammation, marked by inflammatory immune-cell infiltration, signal transducer and activator of transcription 3 (STAT3) activation, and increased expression of inflammatory factors associated with cancer progression [interleukin 6 (IL-6), IL-11, and CXCL2]. Targeting either T cells, IL-6, or STAT3 signaling reduced polyp growth in Stk11+/− animals. Our results identify LKB1-mediated inflammation as a tissue-extrinsic regulator of intestinal polyposis in PJS, suggesting possible therapeutic approaches by targeting deregulated inflammation in this disease.

GASTROINTESTINAL POLYPOSIS WITH MUCOCUTANEOUS PIGMENTATION IN CHILDREN (PEUTZ-JEGHERS SYNDROME)

PEDIATRICS ◽  
1961 ◽  
Vol 28 (4) ◽  
pp. 655-661
Author(s):  
James E. Wenzl ◽  
Lloyd G. Bartholomew ◽  
George A. Hallenbeck ◽  
Gunnar B. Stickler
Keyword(s):  
Small Intestine ◽  
Abdominal Pain ◽  
Surgical Treatment ◽  
Gastrointestinal Bleeding ◽  
Recurrent Abdominal Pain ◽  
Malignant Change ◽  
Review Of The Literature ◽  
Gastrointestinal Polyposis ◽  
Mucocutaneous Pigmentation ◽  
Peutz Jeghers Syndrome

A case is reported in which a child had gastrointestinal polyposis associated with mucocutaneous pigmentations (the Peutz-Jeghers syndrome). He experienced severe recurrent abdominal pain caused by intermittent intussusception. Removal of the grossly palpable polyps from the small intestine and stomach controlled his symptoms. On the basis of a review of the literature it has become apparent that this disease may first become manifest during childhood. The symptoms are primarily those of recurrent abdominal pain and gastrointestinal bleeding in the presence of mucocutaneous pigmentation. The prognosis associated with this disease is excellent, and the risk of malignant change, if it really exists, is minimal. For this reason, it is urged that surgical treatment be conservative rather than radical, to avoid unnecessary loss of intestine.

scholarly journals Register and clinical follow-up of patients with Peutz-Jeghers syndrome in Valencia

2020 ◽  
Vol 85 (2) ◽  
pp. 123-139
Author(s):  
F.A. Rodríguez Lagos ◽  
J.V. Sorlí Guerola ◽  
I.M. Romero Martínez ◽  
P. Codoñer Franch
Keyword(s):  
Peutz Jeghers Syndrome

scholarly journals Recurrent Abdominal Pain in Peutz-Jeghers Syndrome: A Case Report

2019 ◽  
Vol 37 (3) ◽  
pp. 160-164
Author(s):  
Sayeeda Anwar ◽  
Nusrat Kamal ◽  
Rokeya Khanom ◽  
Subrota Kumar Roy ◽  
Farzana Kabir ◽  
...  
Keyword(s):  
Abdominal Pain ◽  
Autosomal Dominant ◽  
Recurrent Abdominal Pain ◽  
Hamartomatous Polyps ◽  
Recurrent Vomiting ◽  
Mucocutaneous Pigmentation ◽  
Peutz Jeghers Syndrome ◽  
Supportive Management ◽  
Black Pigmentation

Peutz-Jeghars Syndrome (PJS), also known as peri-orificial lentiginosis, is a condition of autosomal dominant inheritance. Here, mutation localized at (19p13.3) LKB1/ STK11. It is characterized by presence of mucocutaneous pigmentation and gastrointestinal (GI) hamartomatous polyps. This case of PJS, is a 7 year old girl who came with recurrent vomiting and abdominal pain for 1 year and weight loss for 8 months. She had multiple black pigmentation over lips and buccal mucosa. Endoscopy revealed multiple polyps in stomach and duodenum. Besides supportive management, polyps were removed by surgical intervention. Biopsy of these polyps showed hamartomatous type. Post operative period was uneventful. She recovered well. So far there was no recurrence of pain. She is on regular follow up. J Bangladesh Coll Phys Surg 2019; 37(3): 160-164

scholarly journals Peutz-Jeghers Syndrome in Children: High Recurrence Rate in Short-term Follow-up

2003 ◽  
Vol 26 (4) ◽  
pp. 221-224 ◽  
Author(s):  
Tomoaki Taguchi ◽  
Sachiyo Suita ◽  
Shohei Taguchi ◽  
Shinji Tanaka
Keyword(s):  
Recurrence Rate ◽  
High Recurrence Rate ◽  
Short Term ◽  
Peutz Jeghers Syndrome

scholarly journals Seven-Year Follow-Up of Peutz-Jeghers Syndrome

2016 ◽  
Vol 2016 ◽  
pp. 1-3 ◽  
Author(s):  
Hamid Reza Mozaffari ◽  
Fetemeh Rezaei ◽  
Roohollah Sharifi ◽  
S. Ghasem Mirbahari
Keyword(s):  
Female Patient ◽  
Colorectal Polyps ◽  
Rectal Polyp ◽  
Mucocutaneous Pigmentation ◽  
Peutz Jeghers Syndrome

One of the clinicopathological criteria for diagnosing Peutz-Jeghers syndrome (PJS) is mucocutaneous pigmentation. We present a 57-year-old Iranian female patient with diffuse pigmentation in buccal and labial mucosa. The first colonoscopy revealed one 0.5 cm rectal polyp. However surveillance colonoscopies over a 7-year polyp showed over 100 colorectal polyps.

scholarly journals A case of double balloon endoscopic treatment of polyps of Peutz-Jeghers syndrome by ligations and follow-up by capsule endoscopy

2009 ◽  
Vol 75 (2) ◽  
pp. 88-89
Author(s):  
Kotaro Maki ◽  
Keigo Mitsui ◽  
Yukie Yamada ◽  
Yoko Takahashi ◽  
Akihito Ehara ◽  
...  
Keyword(s):  
Capsule Endoscopy ◽  
Endoscopic Treatment ◽  
Double Balloon ◽  
Peutz Jeghers Syndrome
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