Contributed by Kudakwashe Chikwava, MD and Urvashi Surti, PhD
Published on line in February 2006
Our patient is a 68-year-old man who was transferred to this hospital with upper gastrointestinal (GI) bleeding. His medical history was significant for follicular lymphoma involving a left supraclavicular lymph node diagnosed 7 months prior to another lymphoma involving the right chest wall. Lymphoma of the chest wall preceded the upper GI bleeding by 2 months. Treatment for the lymphomas included 6 cycles of CHOP and local radiation to the chest.
During the admission for the upper GI problems the patient had several investigations that included an endoscopy and a bone marrow biopsy. The endoscopy showed a 3 x1 cm ulcer in the body of the stomach. Multiple biopsies were obtained and sent to pathology.
HISTOPATHOLOGY AND FLOW CYTOMETRY:
Histologic and immunohistochemical studies of the gastric ulcer revealed a CD 20 positive B-cell non-Hodgkin lymphoma with high-grade features. The small size of the biopsy made further classification difficult. The differential diagnosis included diffuse large B-cell and Burkitt lymphoma and hence florescent in-situ hybridization (FISH) studies were performed to look for MYC gene and immunoglobulin heavy chain (IGH)/BCL2 gene rearrangements.
Review of the left supraclavicular lymph node showed Follicular lymphoma of low-grade histology but with a high proliferation rate.
Review of the chest wall lesion showed a CD20 positive B-cell non-Hodgkin lymphoma with high-grade features similar to the gastric biopsy.
Bone marrow biopsy revealed atypical B-lymphoid cells (5%). These cells were CD19 positive, CD10 positive, CD5 negative, largely surface immunoglobulin negative and bcl-2 negative by flow cytometry.
FISH studies performed on the gastric ulcer were positive for both the IGH/BCL2 gene rearrangements (Fig. 1) and MYC gene rearrangements (Fig. 2). The IGH/BCL2 gene rearrangement was observed in 56% of the informative interphase cells examined. The MYC gene rearrangement was observed in 80% of the informative interphase cells examined.
Classical cytogenetic studies performed on the bone marrow aspirate revealed several consistent chromosomal aberrations. These included what appeared to be translocation between the long arm of chromosome 8 and 22, translocation between the long arms of chromosomes 14 and 18, and a complex rearrangement involving triplication of the long arm of chromosome 12 resulting in partial tetrasomy 12q (Fig. 3).