A rare case of Rubinstein-Taybi Syndrome and gynecological malignancy

A rare case of Rubinstein-Taybi Syndrome and gynecological malignancy

Mahfooz, Faisal, Bartholomew, Chase, Franquemont, Stephanie, Mathew, Jr., Jacob;

Parkview Medical Center, Department of Medicine

Rubinstein-Taybi syndrome (RSTS) is a congenital syndrome most associated with mutations on chromosome 16p13.3 that can result in both benign and malignant neurologic and hematologic neoplasms of various primary origins. We present the case of a 39-year old female with RSTS who presented with severe abdominal and pelvic pain. Abdominal and pelvic imaging revealed multiple masses involving the uterus, liver and spleen concerning for malignancy. Biopsies from the endometrium and cervix confirmed this as a poorly differentiated, widely invasive squamous cell carcinoma. This represents the first case of primary squamous cell carcinoma of gynecologic origin in a patient with Rubinstein-Taybi syndrome. This case aims to raise awareness of the gynecological malignancy in patients with RSTS as well as serves as a reminder to clinicians to have a broad differential diagnosis in all patients which may help lead to early recognition of pathology.

Keywords:  Rubinstein-Taybi Syndrome; gynecological malignancy

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Mahfooz, Faisal, Bartholomew, Chase, Franquemont, Stephanie, Mathew, Jr., Jacob;. A rare case of Rubinstein-Taybi Syndrome and gynecological malignancy. International Journal of Case Reports, 2020 4:183. DOI: 10.28933/ijcr-2020-11-1406


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