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.