Francesca Tucci, Italy
IRCCS San Raffaele Scientific Institute Pediatric Immunohematology and Bone Marrow Transplantation UnitPresenter of 1 Presentation
DIAGNOSIS OF EBV-INDUCED DIFFUSE LARGE B CELL LYMPHOMA IN A SEVERELY MALNOURISHED 3 YEARS OLD ADA-SCID PATIENT
Abstract
Background and Aims
Failure to thrive in children with adenosine deaminase (ADA)-severe combined immunodeficiency (SCID) has a wide variety of causes ranging from infections to autoimmune or malignant diseases. Specifically, the development of immunodeficiency-associated lymphoproliferative disorders, especially related to Epstein–Barr virus (EBV), is a life-threatening phenomenon.
Methods
We describe a 3-years-old ADA-SCID patient of Turkish origin. She was diagnosed at 2 months of life and started on PEG-ADA. When 7-months-old, she underwent an ileostomy due to diverticulosis and abscess perforation with consequent weight loss. In absence of a HLA-identical sibling donor, the patient was referred at 3 years of age to our institution for ex-vivo gene therapy with Strimvelis®. She showed severe malnutrition and developmental delay. Thus, immunohematological, histological and radiological investigations were performed in order to ascertain the possible cause of her clinical condition.
Results
Brain MRI detected meningoencephalitis with frontal lobes involvement. Total-body PET showed high metabolic activity of a tongue lesion. Similar metabolic features have been identified in the ipsilateral para-pharyngeal space, in the retro-angle-mandibular area and in the larger nodules of the left upper pulmonary lobe, difficult to differentiate between infectious or inflammatory localizations. CSF revealed high EBV-DNA load (93350 copies/mL) and the biopsy of the tongue confirmed an EBV–positive diffuse large B-cell lymphoma.
Conclusions
Failure to thrive can delay a diagnosis of malignancy in the setting of immunodeficiencies. If the deterioration of the nutritional status is unexplained by infections or autoimmune phenomena, given the lack of appropriate immune-surveillance, malignancy should be considered even in young children.