Background and Aims

Malignancies are extremely rare complications of severe combined immunodeficiencies (SCID). We report 2 patients with X-linked SCID, who developed lymphomas.

Methods

P1 and P2 were diagnosed with X-SCID at the age of 2,5 and 7 months, respectively.

Results

In P1 a lesion (34х37х38mm) of upper posterior mediastinum was detected via CT scan. Histologic examination confirmed EBV-positive Hodgkin-like lymphoprolipherative disorder. P1 received dexamethasone 6mg/m²/d for 15 days and rituximab 375mg/m²/week twice.

In P2 multiple small hypodensive foci in liver and single large focus (24х18х30mm) in spleen were found by ultrasound investigation. Complex anti-infectious therapy was not effective. After splenectomy the histological examination revealed EBV negative lymphoma unclassifiable with features intermediate between Hodgkin and large B-cell lymphomas. P2 received 2 courses of prednisolone 60mg/m²/d 15 days each with 15 days pause in between, rituximab 375mg/m²/week 4 times, brentuximab vedotin 1,8 mg/kg once in 3 weeks 3 times.

After the reduction of lymphoma foci in both patients allogenic hematopoietic stem cell transplantation (HSCT) from haploidentical donors with treosulfan/fludarabine based conditioning was performed. Patients are currently 20 and 4 months after HSCT, with full donor chimerism and no signs of active lymphoma.

Conclusions

We report 2 cases of lymphoma in SCID. Due to high risks of infectious complications in SCID, the use of chemotherapy may lead to intolerable toxicity. Both of our patients were successfully treated with short courses of steroids and targeted immunotherapy, followed by conditioned HSCT.