Peutz-Jeghers Syndrome Chad Manning. Background Autosomal dominant 1/25000 affected worldwide 70%...

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Peutz-Jeghers Syndrome Chad Manning

Transcript of Peutz-Jeghers Syndrome Chad Manning. Background Autosomal dominant 1/25000 affected worldwide 70%...

Page 1: Peutz-Jeghers Syndrome Chad Manning. Background Autosomal dominant 1/25000 affected worldwide 70% familial cases 50% sporadic cases mutated in the STK11.

Peutz-Jeghers Syndrome

Chad Manning

Page 2: Peutz-Jeghers Syndrome Chad Manning. Background Autosomal dominant 1/25000 affected worldwide 70% familial cases 50% sporadic cases mutated in the STK11.

Background

• Autosomal dominant

• 1/25000 affected worldwide

• 70% familial cases 50% sporadic cases mutated in the STK11 gene

• 16p13.3 encoding for serine/threonine kinase 11

• Relationship is unknown

Page 3: Peutz-Jeghers Syndrome Chad Manning. Background Autosomal dominant 1/25000 affected worldwide 70% familial cases 50% sporadic cases mutated in the STK11.

Clinical Features

• Benign growths (polyps) in small intestine (stomach/bowel)

• Abdominal pain and internal bleeding

• Breast, testicular, pancreatic cancers

• Dark-brown or dark-blue spots on lips, gums, inside mouth, around mouth, eyes, nostrils (mucocutaneous macules)

Page 4: Peutz-Jeghers Syndrome Chad Manning. Background Autosomal dominant 1/25000 affected worldwide 70% familial cases 50% sporadic cases mutated in the STK11.

Diagnosis

• Gastrointestinal polyps and pigmented spots

• X-irradiation of abdomen or endoscopy detects polyps

• Polyps have distinct shape and histological composition

• DNA test available for asymptomatic individuals

Page 5: Peutz-Jeghers Syndrome Chad Manning. Background Autosomal dominant 1/25000 affected worldwide 70% familial cases 50% sporadic cases mutated in the STK11.

Treatment

• Polyps removed surgically

• Electrocautery snare

• Exams for cancer and treatment

Page 6: Peutz-Jeghers Syndrome Chad Manning. Background Autosomal dominant 1/25000 affected worldwide 70% familial cases 50% sporadic cases mutated in the STK11.

References

• www.netterimages.com/.../ 001/1322-150x150.jpg

• www.edu.rcsed.ac.uk

• Pasternak, Jack J. Human Molecular Genetics. 2nd edition. 2005.


An Introduction to Peutz Jeghers Syndrome

An Introduction to Peutz Jeghers Syndrome

Pancreatic and Periampullary Carcinoma …Chapter 5 • Pancreatic and Periampullary Carcinoma (Nonendocrine) 5-5003 hereditary polyposis syndromes including HNPCC, Peutz-Jeghers syndrome,

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Magnetic Resonance Imaging - Gastroenterologiaroma.it · Mata A, et al. Gastrointest Endosc 2005; Soares J, et al. Endoscopy 2004. Peutz-Jeghers Syndrome ... Annalisa, 6 y-old with

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“The Complexity of Susceptibility to Cancer”collaboration.aacr.org/sites/CPS/Shared Documents/Session 14... · NF2 NBS1 SDHD SDHC SDHB STK11 APC BMPR1A SMAD4 MUTYH FH MET RB1

“The Complexity of Susceptibility to Cancer”collaboration.aacr.org/sites/CPS/Shared Documents/Session 14... · NF2 NBS1 SDHD SDHC SDHB STK11 APC BMPR1A SMAD4 MUTYH FH MET RB1

STK11 and KEAP1 mutations as prognostic biomarkers in an … · Papillon-Cavanaghs etal MO Open 225e6 doi11136esmoopen-22-6 1 Open access STK11 and KEAP1 mutations as prognostic biomarkers

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An Introduction to Peutz Jeghers Syndrome - Mythic Beasts · An Introduction to Peutz Jeghers Syndrome How do I know if I have Peutz Jeghers Syndrome? A feature of Peutz Jeghers Syndrome

An Introduction to Peutz Jeghers Syndrome - Mythic Beasts · An Introduction to Peutz Jeghers Syndrome How do I know if I have Peutz Jeghers Syndrome? A feature of Peutz Jeghers Syndrome

Role of the AMPK/SREBP-1 pathway in the development of … · 2011-08-08 · molecular mechanism by which OA induces fat accumula- ... HE, hematoxylin-eosin; LKB1(STK11), serine/threonine

Role of the AMPK/SREBP-1 pathway in the development of … · 2011-08-08 · molecular mechanism by which OA induces fat accumula- ... HE, hematoxylin-eosin; LKB1(STK11), serine/threonine

Lkb1/Stk11 regulation of mTOR signaling controls the ... · gram was not primarily affected (Alizarin red and von Kossa stains; Fig. S4A). In contrast, femur and vertebral sections

Lkb1/Stk11 regulation of mTOR signaling controls the ... · gram was not primarily affected (Alizarin red and von Kossa stains; Fig. S4A). In contrast, femur and vertebral sections

Peutz-Jeghers syndromewith metastasizing duodenalcarcinoma · in a polyp in the Peutz-Jeghers syndrome, a metastasis having occurred in a regional lymph gland andthe patient dying

Peutz-Jeghers syndromewith metastasizing duodenalcarcinoma · in a polyp in the Peutz-Jeghers syndrome, a metastasis having occurred in a regional lymph gland andthe patient dying

1) F, 35,Large GIST, Pre-Op Imatinib with some response ...tslworkshopsng.com/yahoo_site_admin1/assets/docs/EQA_005_final... · (Early) gastric adenocarcinoma (?background Peutz-Jeghers

1) F, 35,Large GIST, Pre-Op Imatinib with some response ...tslworkshopsng.com/yahoo_site_admin1/assets/docs/EQA_005_final... · (Early) gastric adenocarcinoma (?background Peutz-Jeghers

Report of a case combining solitary Peutz-Jeghers polyp, colitis … · 2017. 10. 18. · CASE REPORT Open Access Report of a case combining solitary Peutz-Jeghers polyp, ... counts

Report of a case combining solitary Peutz-Jeghers polyp, colitis … · 2017. 10. 18. · CASE REPORT Open Access Report of a case combining solitary Peutz-Jeghers polyp, ... counts

Peutz-Jeghers syndrome revealed by recurrent vomiting. · 2020. 7. 3. · month history of recurrent vomiting complicated by bowel intussusception. Two polyps were found to be the

Peutz-Jeghers syndrome revealed by recurrent vomiting. · 2020. 7. 3. · month history of recurrent vomiting complicated by bowel intussusception. Two polyps were found to be the

A classical case of Peutz–Jeghers syndrome with brief ... · Recently, intraoperative endoscopy and endoscopic poly-pectomy, rather than segmental resection of the bowel, have been

A classical case of Peutz–Jeghers syndrome with brief ... · Recently, intraoperative endoscopy and endoscopic poly-pectomy, rather than segmental resection of the bowel, have been

STK11/LKB1 Mutations and PD-1 Inhibitor Resistance in KRAS ...homebovine.github.io/uploads/1/2/1/6/121658311/stk... · personal fees from Novellus Dx, personal fees from Guardant,

STK11/LKB1 Mutations and PD-1 Inhibitor Resistance in KRAS ...homebovine.github.io/uploads/1/2/1/6/121658311/stk... · personal fees from Novellus Dx, personal fees from Guardant,

Colorectal Cancer Survivorship - MD Anderson … Cancer... · Colorectal Cancer Survivorship: Evaluation of Inherited Colorectal Cancer Risk ... Jeghers, la poliposis juvenil y la

Colorectal Cancer Survivorship - MD Anderson … Cancer... · Colorectal Cancer Survivorship: Evaluation of Inherited Colorectal Cancer Risk ... Jeghers, la poliposis juvenil y la

Peutz-Jeghers syndrome associated with gastrointestinal ... · Gut, 1979, 20, 169-175 Peutz-Jeghers syndromeassociated with gastrointestinal carcinoma Report oftwo cases in a family

Peutz-Jeghers syndrome associated with gastrointestinal ... · Gut, 1979, 20, 169-175 Peutz-Jeghers syndromeassociated with gastrointestinal carcinoma Report oftwo cases in a family

 · Polypen,PJS Peutz-Jeghers-Syndrom der Regulation von Zellzykluskontrolle undApoptosebeteiligtist.Eineursäch-liche Veränderung wird bei 94% der PatienteninSTK11 nachgewiesen,25%

 · Polypen,PJS Peutz-Jeghers-Syndrom der Regulation von Zellzykluskontrolle undApoptosebeteiligtist.Eineursäch-liche Veränderung wird bei 94% der PatienteninSTK11 nachgewiesen,25%

polyps Peutz-Jeghers syndrome · Postgraduate MedicalJournal(May 1980) 56, 373-376 Gall-bladder polyps in Peutz-Jeghers syndrome D. R. FOSTER* D. B. E. FOSTER D.M.R.D.,F.R.C.R. F.R.C.S.

polyps Peutz-Jeghers syndrome · Postgraduate MedicalJournal(May 1980) 56, 373-376 Gall-bladder polyps in Peutz-Jeghers syndrome D. R. FOSTER* D. B. E. FOSTER D.M.R.D.,F.R.C.R. F.R.C.S.

Peutz-Jeghers Syndrome: LBK1/STK11

Peutz-Jeghers Syndrome: LBK1/STK11

BMC Medical Genetics BioMed Central - CORE · BioMed Central Page 1 of 8 (page number not for citation purposes) BMC Medical Genetics Research article Open Access Mutations in STK11

BMC Medical Genetics BioMed Central - CORE · BioMed Central Page 1 of 8 (page number not for citation purposes) BMC Medical Genetics Research article Open Access Mutations in STK11