Endoscopic appearance of AIDS-related gastrointestinal lymphoma with c-MYC rearrangements: case report and literature review

Abstract

Acquired immune deficiency syndrome (AIDS)-related lymphoma (ARL) remains the main cause of AIDS-related deaths in the highly active anti-retroviral therapy (HAART) era. Recently, rearrangement of MYC is associated with poor prognosis in patients with diffuse large B-cell lymphoma. Here, we report a rare case of gastrointestinal (GI)-ARL with MYC rearrangements and coinfected with Epstein-Barr virus (EBV) infection presenting with various endoscopic findings. A 38-year-old homosexual man who presented with anemia and was diagnosed with an human immunodeficiency virus infection for the first time. GI endoscopy revealed multiple dish-like lesions, ulcerations, bloody spots, nodular masses with active bleeding in the stomach, erythematous flat lesions in the duodenum, and multiple nodular masses in the colon and rectum. Magnified endoscopy with narrow band imaging showed a honeycomb-like pattern without irregular microvessels in the dish-like lesions of the stomach. Biopsy specimens from the stomach, duodenum, colon, and rectum revealed diffuse large B-cell lymphoma concomitant with EBV infection that was detected by high tissue EBV-polymerase chain reaction levels and Epstein-Barr virus small RNAs in situ hybridization. Fluorescence in situ hybridization analysis revealed a fusion between the immunoglobulin heavy chain (IgH) and c-MYC genes, but not between the IgH and BCL2 loci. After 1-mo of treatment with HAART and R-CHOP, endoscopic appearance improved remarkably, and the histological features of the biopsy specimens revealed no evidence of lymphoma. However, he died from multiple organ failure on the 139(th) day after diagnosis. The cause of his poor outcome may be related to MYC rearrangement. The GI tract involvement in ARL is rarely reported, and its endoscopic findings are various and may be different from those in non-AIDS GI lymphoma; thus, we also conducted a literature review of GI-ARL cases.

Keywords: Acquired immune deficiency syndrome-related lymphoma; Endoscopic appearance; Epstein-Barr virus infection; Non-Hodgkin-lymphoma; c-MYC rearrangement.

Figure 1

Upper and lower gastrointestinal endoscopic findings. A: Multiple elevated lesions in the body of the stomach; B: Multiple dish-like lesions with bleeding dyed with indigo carmine; C: Bloody spots in the body of the stomach; D: Ulceration with bleeding in the upper body of the stomach; E: Narrow band imaging (NBI) with magnification showing a honeycomb-like pattern at the edge of the elevated lesion; F: Irregular microsurface pattern in ulceration with NBI; G: Erythematous flat lesions in the duodenum; H: Multiple nodular masses in the colon and rectum.

Figure 2

Histological findings and immunostaining of the biopsy specimen. Pleomorphic, atypical lymphoid cells with eosinophilic cytoplasm, marked nucleoli, and vesicular nuclei with hematoxylin and eosin staining (× 10). Immunohistochemistry shows positive staining for CD20 (× 4), CD30 (× 20), CD38 (× 10), CD79a (× 20), EMA (× 10), LMP-1 (× 10), MUM-1 (× 10), and BCL2 (× 10). Biopsy specimens revealed positive EBER-in situ hybridization (× 40). LMP-1: Latent membrane protein 1; MUM-1: Multiple myeloma oncogene 1; EMA: Epithelial membrane antigen.