15-Year-Old Patient with an Unusual Alpha-Fetoprotein-Producing Sertoli-Leydig Cell Tumor of Ovary

Abstract

Ovarian Sertoli-Leydig cell tumors (SLCTs) are extremely rare ovarian sex-cord stromal tumors. Alpha-fetoprotein (AFP) production by SLCTs is a rare event generally linked to the presence of hepatocytes or intestinal mucinous epithelium as heterologous elements. We report here a case of a 15-year-old female complaining about abdominal pain, constipation, and spaniomenorrhea with high level of serum AFP leading to a clinical suspicion of malignant germ cell tumor. Final histopathological diagnosis was a moderately differentiated Sertoli-Leydig cell tumor of the ovary with alpha-fetoprotein-producing cells without hepatocytic or intestinal epithelium differentiation. NGS analysis showed mutation in DICER1 gene. SLCTs occur in patients at any age with a mean age of 25 years. The presence of alpha-fetoprotein-producing cells is an important tool in the differential diagnosis of germ cell tumors and challenging in this case of SLCT because of its rarity in this context. An adequate sampling and exhaustive immunohistochemical analyses are mandatory to make the correct differential diagnosis and confirm the presence of alpha-fetoprotein-producing cells and also define the differentiation because of therapeutic strategies between conservative surgery and/or chemotherapy.

Role of Alpha-Fetoprotein (AFP) in Diagnosing Childhood Cancers and Genetic-Related Chronic Diseases

“…Still, other authors suggest that the source of AFP is the presence of cells similar to Leydig cells, but without the presence of typical crystals on histopathological examination [99]. Another AFP-producing component may be poorly differentiated tissue fragments of the endodermal sinus difficult to identify on histopathological examination (YST-like) [99][100][101].…”

Cylinders and Assemblage- Sertoli-Leydig Cell Tumour -Ovary

“…Majority of paediatric Sertoli-Leydig cell tumours are moderately differentiated or poorly differentiated, concur with DICER1 syndrome and frequently display heterologous elements or retiform tumour configuration. Histological categorization of neoplasms with enhanced tumour grade appears challenging [1,2].…”

“…Well differentiated tumefaction exhibits distinctive Sertoli cell and Leydig cell components. Moderately differentiated or minimally differentiated neoplasms appear devoid of well-formed Sertoli cell tubules with scant Leydig cells [1,2].…”

“…The infrequent, paediatric, preponderantly unilateral ovarian neoplasm is commonly delineated within young females with mean age of tumour emergence at 25 years although postmenopausal women may be implicated. Retiform tumour configuration or germline DICER1 mutations occur in neoplasms occurring in younger females [1,2].…”

“…Germline mutation expounds as a truncating mutation which may comprehensively incriminate the gene. Second hit somatic mutation occurs as focused, hotspot missense mutation implicating RNase IIIb domain of DICER [1,2].…”