About 25% of patients with ataxia telangiectasia (AT) develop malignancies before the age of 20. Guidelines for treatments are lacking. Our aim was to describe the management of hematologic malignancies in children with AT.
For this national retrospective study, all patients with AT who had leukemia or lymphoma before the age of 18 were included.
Thirty children with AT treated between 1996 and 2016 in 16 pediatric centers were reviewed (10 large B-cell diffuse lymphoma; 7 Hodgkin lymphoma (HL), 4 Burkitt lymphoma, 2 T-NHL; 4 T-ALL, 2 B-ALL, 1 AML). Median age was 8.1 years. Five HL and four NHL were EBV+. Ten patients died in palliative care (older age, diagnosis before 2010). Twenty patients received chemotherapy including rituximab in 8 cases; main drugs doses were reduced in 16 cases. Immunoglobulin replacement, prophylactic antibiotics and nutritional support tended to improve tolerance. Complete remission (CR) was achieved for 17 patients but 3 relapsed. One patient developed B-NHL 3 years after HL and is on CR2. Eleven patients died of progression or relapse (n=4), AT-related complications in CR1 at 5.4 and 11.2 years (n=2), toxicity (n=5): 3 sepsis, 1 pneumocystis and 1 late renal failure in CR1 at 8.1 years. Nine patients were alive in CR with a median follow-up of 4.2 years (2.3-9.4).
A curative strategy may be offered in children with AT whose neurological condition is still preserved allowing a prolonged remission in half of them. Modalities of chemotherapies and supportive care were significantly adapted and this deserves specific guidelines.