ABCL-365: Non-Hodgkin Lymphoma Developed in the Clinical Course of a Child with Wiskott-Aldrich Syndrome

Abstract

Context Wiskott-Aldrich syndrome (WAS) is a rare X-linked disorder characterized by thrombocytopenia, dermatitis, recurrent infections, and malignancies. Hematological malignancies are common in WAS patients; unfortunately, they usually have a poor prognosis. Objective Evaluation of a clinical case of hematologic malignancy in a child diagnosed with primary immunodeficiency WAS. Methods We analyzed clinical records, lymph node biopsy, thrombocyte count, serum immunoglobulins, and genetics. Results A three-year-old male child, born to non-consanguineous parents, with a neonatal history of respiratory infections, eczema, and thrombocytopenia, was admitted to our department. Clinical examination revealed bilateral pneumonia, cervical lymphadenopathy (2×2 cm) with 4-month duration, eczematous lesions over the face, and multiple ecchymotic patches over the upper and lower limbs. With a clinical suspicion of Wiskott-Aldrich syndrome (WAS), he was investigated further. His platelet counts were variable, with a minimum of 18–20x109/L, with a mean platelet volume of 11 fL. Clinical symptoms correlated with leukocytosis, with values over 24x109/L, a left shift (non-segmented neutrophils 10%–36%), and relative lymphopenia 12%–22%. Because immunodeficiency was suspected, immunological investigations were performed, and evaluation of serum immunoglobulins showed increased concentrations of total immunoglobulin E, ranging from 85 µE/mL to 2000 µE/mL (age norm is G in intron 2 of the WAS gene. Computed tomography revealed multiple, large, coalescent nodes in the cervical, axillary, mediastinal, and perihilar regions. The patient subsequently underwent a right axillary lymph node biopsy, which was reported as diffuse large B-cell lymphoma patients (DLBCL). According to his immunological and hematological diagnosis, he was admitted to the hematological department for the preparation and initiation of a bone marrow transplant. Conclusions Variable clinical forms can be present in WAS. Due to poor immunological response, patients frequently develop malignancy, with NHL being the most common. Prognosis of NHL in WAS remains poor, and transplant remains the only curative therapy presently for WAS.