Peripheral T-cell lymphoma, hemophagocytic lymphohistiocytosis and XIAP gene mutations: getting the treatment right!

Abstract

Hemophagocytic lymphohistiocytosis (HLH) is a distinct hematological condition characterized by unregulated activation of the immune system, which may be genetically inherited or secondary to an underlying pathology. In this case report, we describe a 39-year-old patient with a history of persistent fever, weakness, progressive jaundice and bicytopenia who was hospitalized in the critical care unit. Evaluation included a lymph node biopsy, whole body imaging with a PET scan and a bone marrow examination, which resulted in a diagnosis of peripheral t-cell lymphoma (PTCL) along with bone marrow hemophagocytosis. Further investigations revealed that the patient fulfilled 5 out of the 8 standard criteria for a diagnosis of HLH. With a poor response to initial prephase chemotherapy, he later achieved remission with systemic chemotherapy directed at PTCL accompanied by the concurrent treatment of HLH. The decision of consolidation therapy was personalized based on the finding of XIAP gene mutation on high throughput sequencing results of the bone marrow aspirate sample. XIAP gene mutations are known to be associated with familial forms of HLH. The patient underwent consolidation therapy with an allogeneic hematopoietic stem cell transplantation. We discuss the disease evaluation, and personalized treatments delivered, including the challenges we faced during the search for a potential donor.