Case Report
Copyright ©The Author(s) 2018. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Med Genet. Feb 27, 2018; 8(1): 1-4
Published online Feb 27, 2018. doi: 10.5496/wjmg.v8.i1.1
Pedigree analysis supports a correlation between an AXIN2 variant and polyposis/colorectal cancer
Amrit Lamba, Parth Parekh, Chris T Dvorak, Jordan J Karlitz
Amrit Lamba, Department of Internal Medicine, Tulane University, New Orleans, LA 70112, United States
Parth Parekh, Department of Gastroenterology, Carillion Clinic, Roanoke, VA 24016, United States
Chris T Dvorak, Department of Genetics, Tulane University, New Orleans, LA 70112, United States
Jordan J Karlitz, Department of Gastroenterology, Tulane University, New Orleans, LA 70112, United States
Author contributions: Lamba A drafted the manuscript; Lamba A, Parekh P and Karlitz JJ acquired the data; Lamba A, Parekh P, Dvorak CT and Karlitz JJ critically revised the manuscript; Karlitz JJ created the study concept and is the article guarantor.
Informed consent statement: The patient involved in this study gave her written informed consent authorizing use and disclosure of her protected health information.
Conflict-of-interest statement: All the authors have no conflicts of interests to declare.
Open-Access: This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See:
Correspondence to: Parth Parekh, MD, Academic Fellow, Department of Gastroenterology, Carillion Clinic, 1906 Belleview Ave, Roanoke, VA 24016, United States.
Telephone: +1-845-5513357
Received: September 8, 2017
Peer-review started: September 22, 2017
First decision: October 30, 2017
Revised: November 21, 2017
Accepted: December 29, 2017
Article in press: December 29, 2017
Published online: February 27, 2018
Case characteristics

A 55-year-old woman with 12 tubular and tubulovillous adenomas and signifiant family history of colon polyps and gastrointestinal neoplasms, including colorectal cancer (CRC).

Clinical diagnosis

Support for a familial polyposis/CRC familial syndrome based on genetic mutation of AXIN2.

Differential diagnosis

Familial polyposis/CRC familial syndrome from another mutation.

Laboratory diagnosis

AXIN2 gene variant on genetic testing.

Imaging diagnosis

Multiple polyps found on colonoscopy.

Pathological diagnosis

Twelve tubular and tubuloviloous adenomas.


Increased frequency of screening colonoscopies for the patient, her family members and possible genetic testing and counseling.

Related reports

Two other families with significant polyposis/CRC findings with AXIN2 mutations.

Term explanation

Polyposis: 10 or more colonic polyps; Oligodontia: Congenital absence of 6 or more adult teeth.

Experiences and lessons

It will be important to categorize all genetic abnormalities to better understand their clinical significance.