Activated phosphoinositide 3-kinase delta syndrome (APDS) is a combined immunodeficiency resulting from gain-of-function mutations in PIK3CD, the gene encoding the catalytic subunit of phosphoinositide 3-kinase delta (PI3Kd). The clinical hallmarks of this syndrome are recurrent sinopulmonary infections, non neoplastic lymphproliferation, herpesvirus infections and auto-immunity. 13% of patients develop malignant lymphoma.
We present the case of an 8 year old patient with APDS syndrome. At the age of 7 years old she presented with an ileocolic intussusception requiring ileocolic resection. Pathology of the resected bowel showed lymphproliferation but no malignancy. During follow up, abdominal ultrasound revealed a mass close to the right ovary. Biopsy was done and showed no signs of lymphoma, revision suggested a dysgerminoma. Right sided ovariectomy and a biopsy of the -also enlarged- left ovary was performed and showed a bilateral dysgerminoma. Ascites showed atypical cells. The diagnosis of a bilateral dysgerminoma FIGO stadium 1C3 was made and treatment with 2 courses of Cisplatinum and Etoposide were started according to MAKEI 2005 protoocol.
Immune histochemistry for p85a, p110delta and phospo AKT and whole exome sequencing will be performed to investigate involvement of the PI3K delta pathway in this dysgerminoma.
Histology and genetic analysis might reveal importance of the PI3K delta pathway in the development of this bilateral dysgerminoma.
This is the first case of a patient with APDS syndrome developing a bilateral dysgerminoma presented in literature. Further investigation will unravel the involvement of the PI3Kdelta pathway in the etiology of this tumor.