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Vulvar Cancer as a Result of GATA2 Deficiency, a Rare Genetic Immunodeficiency Syndrome

Toboni, Michael D., MD, MPH; Bevis, Kerri S., MD, MSPH

doi: 10.1097/AOG.0000000000002905
Contents: Cancer: Case Reports

BACKGROUND: Vulvar cancer has become more prevalent, and its causes include chronic dermatoses and human papillomavirus (HPV)–mediated disease. Younger immunocompromised women can also be affected. We describe a case of vulvar carcinoma as a result of GATA2 deficiency.

CASE: A 19-year-old woman presented to our gynecologic oncology clinic for management of a large vulvar mass. She was diagnosed with stage IB vulvar carcinoma after vulvectomy. GATA2 deficiency was the contributing factor causing vulvar carcinoma.

CONCLUSION: GATA2 deficiency causes immunodeficiency in young women, and patients with early-onset HPV–related disease, a family or personal history of leukemia, recurrent infection, or immune irregularities should be screened. Health care providers for these women are often obstetrician–gynecologists, who can provide diagnosis, treatment, referral, and prevention of HPV–related diseases.

GATA2 deficiency causes immunodeficiency syndromes, and women with this mutation need to be identified to prevent human papillomavirus–related cancers.

Department of Obstetrics & Gynecology and the Division of Gynecologic Oncology, University of Alabama at Birmingham, Birmingham, Alabama.

Corresponding author: Michael D. Toboni, MD, MPH, University of Alabama at Birmingham, 619 19th Street South, 176F Room 5329, Birmingham, AL 35249; email:

Financial Disclosure The authors did not report any potential conflicts of interest.

Each author has indicated that he or she has met the journal's requirements for authorship.

Received May 18, 2018

Received in revised form July 10, 2018

Accepted July 26, 2018

© 2018 by The American College of Obstetricians and Gynecologists. Published by Wolters Kluwer Health, Inc. All rights reserved.