Pediatria pre prax 3/2015

Case report of a child with a rare infratentorial atypical teratoid/rhabdoid tumor

Atypical teratoid/rhabdoid tumor of the central nervous system is rare and highly malignant tumor with incidence in young age, usually less than 2 years. It was described and distinguished from other infant tumors like primitive neuroectodermal tumor and medulloblastoma in 1987. Predominant location is brain and metastatic spread is also possible. Histopatological markers and genetic analysis display loss of INI1 protein expression, claudin-6 protein and 22q11.2 chromosome mutation. Clinical symptoms depend on location of tumor, hydrocephalus with enlarging head size is common in infratentorial lesions. Despite of aggressive treatment (radical surgery resection, chemotherapy and radiation therapy) prognosis is very poor, especially under age of 2 years. In this case report is discussed a case of infant with brainstem atypical teratoid/rhabdoid tumor diagnosed in age of 6 months. Biopsy was performed due to critic location of tumor. Treatment was managed by ACNS 0333 protocol (Children´s Oncology Group) using two cycles of induction high-dose chemotherapy, which was followed by radiation therapy, three consolidation cycles of chemotherapy and with autologous peripheral blood stem cell transplantation. This patient was also the youngest in our hospital, which underwent therapy using this protocol after diagnostic biopsy. Further clinical deterioration led to death 13 months after operation.

Keywords: atypical teratoid/rhabdoid tumor, INI1 protein, 22g11.2 chromosome mutation, ACNS 0333 protocol, peripheral blood stem cell transplantation.