GPR: 2021 - Week 21

From MGH Learn Pathology
Revision as of 03:02, May 23, 2021 by An224 (talk | contribs)
(diff) ← Older revision | Latest revision (diff) | Newer revision → (diff)

Clinical history

65 year old woman with a history of hereditary hemorrhagic telangiectasia presents with a large gastric mass.


GPR21-20-b4095226-78c0-4ae3-a494-37d5f4cf07d7.jpeg


Registered users must be logged in to access the interactive quiz.


GPR21-20-b4095226-78c0-4ae3-a494-37d5f4cf07d7.jpeg

 
Juvenile Polyposis Syndrome (JPS)
  • Germline mutations in SMAD4 or BMPR1A in 50-60% of JPS patients.
  • Associated with hereditary hemorrhagic telangiectasias.
  • SMAD4 mutations commonly have upper GI polyps.
  • 2/3 of polyps are pedunculated.
  • Larger lesions are multilobulated and ulcerated.
  • Patients with JPS have an increased risk of gastric and colorectal carcinoma.
 

GPR21-20-50fc1172-aef6-4abc-aa29-d06f8572955b.jpeg

 

Lynch syndrome (HNPCC)

  • AKA- Hereditary Nonpolyposis Colorectal Cancer
  • Autosomal dominant inheritance.
  • Majority of cases are due to germline mutation in DNA mismatch repair (MLH1, MSH2, MSH6, or PMS2 )
  • Most tumors are located in the proximal colon and have FEW adenomas, thus nonpolyposis.
  • Increased risk of colorectal carcinoma.
 

GPR21-20-3e0f563e-9183-43cf-9075-fcd87ce3c925.jpeg

 

Familial Adenomatous Polyposis

  • Autosomal dominant inherited germline mutation in APC gene (upregulates the Wnt pathway)
  • Polyps are located mostly in the sigmoid colon and rectum.
  • Can have hundreds to thousands of polyps.
  • Attenuated form has fewer polyps (usually <100).
 

GPR21-20-5c6e5c3d-0bcc-46c0-91f8-5fb15d625210.jpeg

 

Attenuated Familial Adenomatous Polyposis

  • Zoomed in
 

GPR21-20-957cebcb-bdc7-4516-a462-4c8c4415739f.jpeg

 

Classic Familial Adenomatous Polyposis

  • Hundreds to thousands of polyps.
 


  • Dr. Vikram Deshpande
  • Emily Schlotterbeck
  • Dr. Christopher Mount
  • Dr. Melanie Kwan

This week's Gross Pathology Roundup was presented by Albert Sy, MD on Mon, May 24, 2021.