Acute Lymphoblastic Leukemia Developing in a Patient with 46, XY Pure Gonadal Dysgenesis (Swyer Syndrome) with Malignant Gonadal Germ Cell Tumor: A Case Report and Literature Review

A female phenotype with strip-like gonads, 46, XY pure gonadal dysgenesis (PGD) has a high tendency to develop into gonadal germ cell tumors. We described one patient with 46, XY PGD, who had a gonadal mixed germ cell tumor (GCT) and acute lymphoblastic leukemia (ALL). This is a unique case because two malignancies developed and relapsed in one person with chromosome abnormality, and the patient is the youngest reported so far. There is an association between her GCT and ALL, as the two malignancies may share a common clonal origin and the NRAS mutation likely plays a role in tumor genesis. We organized MDT to formulate a suitable plan of treatment. We completed the surgery and full cycles of chemotherapy for GCT and controlled ALL by chemotherapy and bone marrow transplantation. However, unfortunately, the young life finally ended following a rare transplant rejection. We concluded that ALL likely shares common clonal origin with GCT and that gene mutations may play a role in neoplasia, which requires further exploration. In the face of such complex conditions, we need to balance the treatment of both diseases to prolong survival and improve the patients’ quality of life.