• Skip to primary navigation
  • Skip to main content
  • Skip to footer

SAGES

Reimagining surgical care for a healthier world

  • Home
    • Search
    • SAGES Home
    • SAGES Foundation Home
  • About
    • Who is SAGES?
    • SAGES Mission Statement
    • Advocacy
    • Strategic Plan, 2020-2023
    • Committees
      • Request to Join a SAGES Committee
      • SAGES Board of Governors
      • Officers and Representatives of the Society
      • Committee Chairs and Co-Chairs
      • Full Committee Rosters
      • SAGES Past Presidents
    • Donate to the SAGES Foundation
    • SAGES Store
    • Awards
      • George Berci Award
      • Pioneer in Surgical Endoscopy
      • Excellence In Clinical Care
      • International Ambassador
      • IRCAD Visiting Fellowship
      • Social Justice and Health Equity
      • Excellence in Community Surgery
      • Distinguished Service
      • Early Career Researcher
      • Researcher in Training
      • Jeff Ponsky Master Educator
      • Excellence in Medical Leadership
      • Barbara Berci Memorial Award
      • Brandeis Scholarship
      • Advocacy Summit
      • RAFT Annual Meeting Abstract Contest and Awards
    • “Unofficial” Logo Products
  • Meetings
    • NBT Innovation Weekend
    • SAGES Annual Meeting
      • 2024 Scientific Session Call For Abstracts
      • 2024 Emerging Technology Call For Abstracts
    • CME Claim Form
    • Industry
      • Advertising Opportunities
      • Exhibit Opportunities
      • Sponsorship Opportunities
    • Future Meetings
    • Related Meetings Calendar
  • Join SAGES!
    • Membership Benefits
    • Membership Applications
      • Active Membership
      • Affiliate Membership
      • Associate Active Membership
      • Candidate Membership
      • International Membership
      • Medical Student Membership
    • Member News
      • Member Spotlight
      • Give the Gift of SAGES Membership
  • Patients
    • Healthy Sooner – Patient Information for Minimally Invasive Surgery
    • Patient Information Brochures
    • Choosing Wisely – An Initiative of the ABIM Foundation
    • All in the Recovery: Colorectal Cancer Alliance
    • Find a SAGES Member
  • Publications
    • SAGES Stories Podcast
    • SAGES Clinical / Practice / Training Guidelines, Statements, and Standards of Practice
    • Patient Information Brochures
    • TAVAC – Technology and Value Assessments
    • Surgical Endoscopy and Other Journal Information
    • SAGES Manuals
    • SCOPE – The SAGES Newsletter
    • COVID-19 Annoucements
    • Troubleshooting Guides
  • Education
    • OpiVoid.org
    • SAGES.TV Video Library
    • Safe Cholecystectomy Program
      • Safe Cholecystectomy Didactic Modules
    • Masters Program
      • SAGES Facebook Program Collaboratives
      • Acute Care Surgery
      • Bariatric
      • Biliary
      • Colorectal
      • Flexible Endoscopy (upper or lower)
      • Foregut
      • Hernia
      • Robotics
    • Educational Opportunities
    • HPB/Solid Organ Program
    • Courses for Residents
      • Advanced Courses
      • Basic Courses
    • Fellows Career Development Course
    • Robotics Fellows Course
    • MIS Fellows Course
    • Facebook Livestreams
    • Free Webinars For Residents
    • SMART Enhanced Recovery Program
    • SAGES OR SAFETY Video
    • SAGES at Cine-Med
      • SAGES Top 21 MIS Procedures
      • SAGES Pearls
      • SAGES Flexible Endoscopy 101
      • SAGES Tips & Tricks of the Top 21
  • Opportunities
    • NEW-Area of Concentrated Training Seal (ACT)-Advanced Flexible Endoscopy
    • SAGES Fellowship Certification for Advanced GI MIS and Comprehensive Flexible Endoscopy
    • Multi-Society Foregut Fellowship Certification
    • SAGES Research Opportunities
    • Fundamentals of Laparoscopic Surgery
    • Fundamentals of Endoscopic Surgery
    • Fundamental Use of Surgical Energy
    • Job Board
    • SAGES Go Global: Global Affairs and Humanitarian Efforts
  • Search
    • Search All SAGES Content
    • Search SAGES Guidelines
    • Search the Video Library
    • Search the Image Library
    • Search the Abstracts Archive
  • OWLS
  • Log In

32-Year-Old Male, Hx of FG Syndrome, presenting with metastatic colon cancer with metastases to liver status post combined colon and liver resection

Taylor D Coleman, MD, Christine Tat, MD, Joaquin Estrada, MD, FACS, Jan Kaminski, MD, FACS. University of Illinois, Metropolitan Group Hospitals

Colorectal carcinoma (CRC) is the most common malignancy of the GI tract.  Many molecular mechanisms underlying development remain unknown.  Our case presents a rare genetic condition, FG Syndrome, with numerous genes on the X chromosome that have been found to be associated with increased risk for progression to CRC.  Our patient, a 32-year-old male with FG Syndrome, intellectual disability, schizo-affective disorder, imperforate anus originally presented with constipation, abdominal pain, and intermittent rectal bleeding.  Work-up revealed a fungating, obstructing mass at the sigmoid colon with biopsy consistent with adenocarcinoma. The patient underwent a combined laparoscopic left segmental colectomy with primary anastomosis as well as an open partial hepatectomy.  Pathology was consistent with a pT3N2aM1a lesion.

Although CRC can be most commonly associated with a variety of genetic, environmental, and dietary factors, this report will focus on its association with FG Syndrome.  Most mutations that lead to FG syndrome involve the MED12 gene, though it is important to note there are numerous genes associated with the syndrome’s various presentations. These genes include Mecp2, CASK, and FLNA.  In a patient with a genetically predisposed syndrome, who then develops CRC at an early age, it is reasonable to suspect that the explanation may be found at the genetic level.  Variations in expression of these aforementioned genes have been shown to be, 1. Risk factors for the development of CRC, and 2. Prognostic factors after the diagnosis of CRC. 

When evaluating our patient who has presented with newly diagnosed CRC at a young age, a work up is completed that includes testing for some of the more common causes of genetically associated predisposition to the development of this malignancy.  Testing included Microsatellite Instability/HNPCC work up which showed microsatellite stable tumor.  Another test screened for a pathogenic variant of RAS mutation including KRAS and NRAS.  There was no pathogenic variant detected.  These results leave us raising questions in need of further investigation, such as “do the mutations associated with FG Syndrome have a causative effect or prognostic function in the disease process?”  “Which of these mutations could provide a possible screening test for these patients in the future?”  “Would patients with FG syndrome benefit from early screening for CRC?”  Although FG Syndrome is a rare condition, the ideas and questions discussed in this paper can be applied far past the narrow spectrum of this one disorder.


Presented at the SAGES 2017 Annual Meeting in Houston, TX.

Abstract ID: 95671

Program Number: P351

Presentation Session: Poster Session (Non CME)

Presentation Type: Poster

View this Poster

342

Share this:

  • Twitter
  • Facebook
  • LinkedIn
  • Pinterest
  • WhatsApp
  • Reddit

Related

Hours & Info

11300 West Olympic Blvd, Suite 600
Los Angeles, CA 90064
1-310-437-0544
[email protected]
Monday - Friday
8am to 5pm Pacific Time

Find Us Around the Web!

  • Facebook
  • Twitter
  • YouTube

Important Links

SAGES 2023 Meeting Information

Healthy Sooner: Patient Information

SAGES Guidelines, Statements, & Standards of Practice

SAGES Manuals

 

  • taTME Study Info
  • Foundation
  • SAGES.TV
  • MyCME
  • Educational Activities

Copyright © 2023 Society of American Gastrointestinal and Endoscopic Surgeons