Work

A rare case of DICER 1 Syndrome with malignant mixed germ cell tumour of ovary in an adolescent girl with skeletal dysmorphism

Year: 2025

Type: article

Abstract: Introduction- Mixed ovarian germ cell tumours (MOGCTs) are rare entities, accounting for less than 5% of all ovarian malignancies and under 1% of ovarian germ cell tumours. We present a case in which a malignant mixed germ cell tumour manifested as an uncommon and atypical presentation of DICER-1 syndrome—a condition more frequently associated with Sertoli-Leydig cell tumours. Case presentation-An 18-year-old female with skeletal dysmorphism had presumptive diagnosis of acute febrile illness, a neoplastic left adnexal mass, bilateral pleural effusion, and congenital dislocation of the right femoral head. She underwent successful surgical intervention followed by combination chemotherapy, resulting in favourable clinical outcomes. On histopathological examination the mass turned out to be mixed germ cell tumour(yolk sac + immature teratoma grade 1). Conclusion- Early detection and appropriate management are critical for optimizing outcomes in adolescents with ovarian malignancies associated with Cancer Predisposition Syndromes (CPS). While treatment strategies in this age group typically emphasize fertility preservation, it was regrettably not feasible in our case due to congenital absence of contralateral ovary and fallopian tube with hypoplastic uterus.

Source: Journal of Carcinogenesis

DOI: 10.64149/j.carcinog.24.4s.474-479

Authors: Mansi Shrigirwar, Toshali Patel, Nilam Ramteke, Chameli Banjare, Bhushan Jadhav

Institutions: Government Medical College, Mahatma Gandhi Institute of Medical Sciences

Language: English

Topic: Ovarian cancer diagnosis and treatment

Subfield: Reproductive Medicine

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $1,500