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

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Abstract

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.

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