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Acta pediátrica de México

versión On-line ISSN 2395-8235versión impresa ISSN 0186-2391


GALVEZ-CUITIVA, Eduardo Augusto et al. Germ cell ovarian tumor in an adolescent with ataxia-telangiectasia. Acta pediatr. Méx [online]. 2015, vol.36, n.6, pp.464-472. ISSN 2395-8235.


Ataxia-telangiectasia (AT) is an autosomal recessive hereditary disease characterized by neurological deterioration, telangiectasias and immunodeficiency. The cause is a punctual mutation in ATM gene localized in chromosome 11q22.3-23.1, which translates into a phosphoinositol 3-kinase protein. This protein regulates the cell cycle and the repair of the DNA. This defect partially explains the increased risk of cancer. The association of the AT with cancer has been already established, being the major incidence of leukemias and lymphomas. In the literature, seven girls have been reported with the association of AT and germ cell solid tumors, specifically with dysgerminoma.

Case report:

We present the case of a 12-year-old female who was diagnosed with AT since 3 years of age. She presented recurrent respiratory tract infections requiring multiple hospitalizations and was treated with immunoglobulin and antimicrobial prophylaxis. She was admitted in the emergency ward with acute abdomen and was evaluated by surgical oncology and operated. An abdominal mass was found and resected. Pathology reported an ovaric mixed germ cell tumor with coriocarcinoma and dysgerminoma. She was treated with one dose of bleomicin (10 UI/m2), cyclophosphamide (1 g/m2/day for four days) and cysplatin (20 mg/m2/day for five days). During chemotherapy she presented a live threatening septic shock. Because of AT it was decided to stop chemotherapy. At present, the patient is alive without tumor activity for 17 months.


AT is associated with leukemias and lymphomas. We report a case of an AT patient with ovarian tumor, coriocarcinoma and dysgerminoma components. A special approach is proposed for these inmunocompromised patients who are leaving more and are at high risk of cancer but may not tolerate standard treatments.

Palabras llave : Cancer of ovary; dysgerminoma; choriocarcinoma; adolescent; ataxia telangiectasia.

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