(20) Case report: Ovarian Capillary-Lymphatic-Venous Malformation with Uncommon Genetic Etiology

Background: Ovarian neoplasms are uncommon in premenarchal children. Amongst this population, the proportion of malignant lesions is higher than rates seen in post-menarchal adolescents. Pediatric Gynecologists are challenged to pre-operatively risk-stratify neoplasms to help identify patients who can safely undergo ovarian sparing therapy. We present the case of a young child with a solid ovarian mass who underwent unilateral salpingoopherectomy. Final pathologic diagnosis revealed an uncommon, benign ovarian lesion with genetic etiology.

Case: A 2-year 11-month-old was referred to the Pediatric Gynecology service with an asymptomatic left lower quadrant mass and ultrasound evidence of solid 3.9 x 2.9 x 4.6 cm ovarian lesion. On further history, her family described delayed speech and diagnosis of Autism Spectrum Disorder. They also reported frequent episodes of bloody stool and associated fussiness.

MRI was obtained that confirmed a solid, vascular left adnexal mass measuring 4 x 4 x 3.5 cm. There was no internal fat or hemorrhagic components. In addition, a colonic polyp causing colo-colonic intussusception was noted. Tumor markers, including Ca 125, AFP, LDH, HCG, estradiol and inhibin, were within normal range. She was taken to the operating room jointly by Pediatric Gynecology and Gastroenterology. Given the mass had features suggestive of malignancy, we undertook a mini-laparotomy, left salpingoopherectomy and omental biopsy. Gastroenterology performed a colonoscopy with polypectomy. Pathology reported an ovarian vascular lesion most consistent with a capillary-lymphatic-venous malformation with no evidence of malignancy. Colonic polyps were in keeping with juvenile polyps. The patient was sent to Genetics to investigate for an underlying genetic cause. Testing demonstrated a pathogenic mutation in the PTEN gene consistent with a diagnosis of PTEN hamartoma tumor syndrome (PHTS).

Comments: We present the case of an uncommon ovarian neoplasm, colonic polyp and Autism Spectrum Disorder with unifying genetic etiology. PTHS is an autosomal dominant condition characterized by hamartomatous growths. To our knowledge, the ovarian lesion we describe has not previously been reported in a child with PHTS. Pediatric Gynecologists are challenged to build our library of potential ovarian neoplasms within the pediatric population. This will serve to advance our knowledge of potential pathologies and further inform risk-stratifying decision algorithms.