Sertoli-Leydig cell tumor of ovary in children: A report of two cases, including retiform variant.

Sertoli-Leydig cell tumors (SLCTs) are rare and heterogeneous group of ovarian neoplasms which belong to the sex cord-stromal category of tumors. SLCTs are classified into well, intermediate, and poorly differentiated types. Retiform growth pattern and heterologous elements are commonly found in moderately and poorly differentiated tumors. SLCTs are usually encountered in the third decade of life and patients most often present with virilization. Here, we report two cases of SLCTs of the ovary, both in 2-year-old girls without any hormonal symptoms. The first case was a retiform variant of Sertoli-Leydig cell tumor and the second was a well-differentiated SLCT. Because of its wide spectrum of morphology, several tumors enter in the differential diagnosis and the presence of heterologous elements further complicates the diagnosis. Here, we have described the morphological characteristics of these tumors and discussed their differential diagnoses. SF-1, WT1, and α-inhibin are useful immunostains in establishing the diagnosis and differentiating these from the more the common ovarian germ cell tumors in children.

DICER1 and FOXL2 Mutation Status Correlates With Clinicopathologic Features in Ovarian Sertoli-Leydig Cell Tumors.

Sertoli-Leydig cell tumors (SLCTs) are rare ovarian sex cord-stromal neoplasms. The only known recurrent genetic abnormality is DICER1 mutation, with rare mutations reported in FOXL2. We set out to establish a molecular classifier using DICER1 and FOXL2 somatic mutation status and clinicopathologic features in 42 SLCTs. Five tumors (12%) were well differentiated, 31 (74%) moderately differentiated, and 6 (14%) poorly differentiated. Eight (19%) had heterologous elements, and 2 (5%) showed retiform differentiation; all 10 were moderately differentiated. DICER1 RNase IIIb domain mutations were identified in 18/41 (44%; 17 moderately, 1 poorly differentiated), including all cases with retiform or heterologous elements. FOXL2 c.402C>G (p.C134W) mutation was identified in 8/42 (19%) tumors (5 moderately, 3 poorly differentiated). DICER1 and FOXL2 mutations were mutually exclusive. Median age for the cohort was 47 years (range, 15 to 90 y). Patients with DICER1 mutations were younger (median, 24.5 y; range, 15 to 62 y) than patients with FOXL2 mutation (median, 79.5 y; range, 51 to 90 y) (P<0.0001). Nine of 10 tumors with retiform or heterologous elements occurred in premenopausal patients (median, 26.5 y; range, 15 to 57 y). Patients with tumors that were wild type for DICER1 and FOXL2 (15/42, 37%) had an intermediate age (median, 51 y; range, 17 to 74 y). All tumors were FOXL2 positive by immunohistochemistry. Patients with FOXL2 mutation trended toward presenting more often with abnormal bleeding (P=0.13); DICER1-mutant patients trended toward having more androgenic symptoms (P=0.22). Our data suggest at least 3 molecular subtypes of SLCT with distinct clinicopathologic features: DICER1 mutant (younger, more androgenic symptoms, moderately/poorly differentiated, retiform or heterologous elements), FOXL2 mutant (postmenopausal, abnormal bleeding, moderately/poorly differentiated, no retiform or heterologous elements), and DICER1/FOXL2 wild type (intermediate age, no retiform or heterologous elements, including all well-differentiated tumors).

Tumor virilizante de ovário: relato de um caso em paciente de 14 anos / Virilizing ovarian Tumor: report of a case in a patient 14 years old

Relatamos o caso de uma paciente com 14 anos de idade, que apresentou, voz rouca há dois anos, pilificaçäo exagerada há um ano e ausência de menarca. Ao exame físico foi constatado hirsutismo em regiäo supralabial, linha intermamária, linha alba e raiz da coxa. A paciente apresentou massa palpável em flanco esquerdo, de consistência maciça e endurecida. As investigaçöes laboratoriais revelaram níveis altos de testosterona, 512ng/dl (normal=30 a 90ng/dl). Os níveis de DHEA e DHEA-S se encontravam dentro dos valores normais. A ultasonografia pélvica e abdominal revelou massa complexa, predominantemente cística, ocupando a cavidade pélvica e abdominal inferior esquerda. A tomografia computadorizada revelou que tal massa apresentava dimensöes de 16x11x7 cm e se estendia superiormente à cicatriz umbilical por cerca de 4,0 cm. Foi indicada ooforectomia total esquerda. Um mês após a cirurgia a paciente apresentou menarca, diminuiçäo do hirsutismo e queda de níveis de testosterona (7ng/dl)