Gastrointestinal Plasmoblastic Lymphoma Associated with Wiskott-Aldrich Syndrome: A Case Report

Introduction: Plasmablastic lymphoma (PBL) is a rare and aggressive subtype of non-Hodgkin lymphoma that commonly occurs in human immunodeficiency virus (HIV)-positive individuals.¹ But also PBL can be seen in patients with other immunodeficiencies as well as in immunocompetent individuals. Wiskott-Aldrich syndrome (WAS) is a primary immunodeficiency disorder with X-linked recessive transmission that being susceptible to infections and also reduced ability to form blood clots.²

We report a case of gastrointestinal PBL in a 28-year-old male patient who had been diagnosed with WAS for 12 years.

Case description: He was admitted to our clinic with hematemesis and melena complaints and endoscopy was performed. A 5X4 cm mass was observed in the gastric antrum and biopsy was reported plasma cell dyscrasias with kappa monoclonal. PET/CT was performed: Bilateral paraaortic area, common iliac chain, internal and external iliac chain and bilateral inguinal area were observed in multiple lymph nodes with moderate-dense hypermetabolic activity of 35x25 mm in size, and intense hypermetabolic activity in lung, stomach and spleen were seen. These findings were primarily evaluated as nodal and extranodal involvement of malignant lymphoproliferative processes (lymphoma?). Physical examination revealed ascites, hepatosplenomegaly and hyperpigmentation under both knees. Ascites sampling showed diffuse plasmocytic cells, and flowcytometry showed peritoneal involvement of: CD38 +, CD138 +, CD56-, CD19-. Bronchoscopy was performed and atypical plasma cell proliferation was observed. Anti-HIV was negative. We started Bortezomib, Cyclophosphamide and Dexamethasone treatment.

Discussion: PBL is a subtype of diffuse large B-cell lymphoma usually seen in HIV-positive patients. In a review of 590 cases by Castillo et al., 28% of PBL patients were HIV-negative.3 However, in all cases with PBL, as in our patient, there is an immunosuppressed situation. Again in the same review the sex distribution shows a male predominance (75%). In PBL, the most common site of involvement, regardless of whether HIV-positive or negative, is oral (48% and 40%) and gastrointestinal (12% and 21%) respectively.3 However, involvement can be seen almost everywhere. PBL is a high-grade neoplasm with cytomorphologic features such as large immunoblasts or large plasma cells that express plasma cell markers and lack B-cell markers. The diagnosis of PBL is challenging because it has features that overlap with those of myeloma and with lymphomas that have plasmablastic morphology. The immunophenotype is similar to that in plasma cell neoplasms, positive for CD79a, IRF-4/MUM-1, BLIMP-1, CD38, and CD138.4 The neoplastic cells are negative for B-cell markers CD19, CD20, and PAX-5; however, a subset may be dim positive for CD45. Some cases express T-cell markers CD2 or CD4.5 Epstein-Barr virus infection and MYC rearrangements are frequently observed. Treatment of PBL is challenging because of the lack of established treatment and poor outcomes, with median survival times shorter than one year.6

Conclusion: PBL is a very rare disease and it is quite difficult to diagnose because it contains different components. PBL should be considered in immunosuppressive patients that have negative B cell markers and positive plasma cell markers.