Waldenström Macroglobulinemia: the first molecularly confirmed case in Honduras

Abstract

Background: Waldenström’s macroglobulinemia (WM) is a proliferative disorder in which a lymphoplasmacytic lymphoma (LPL) is present in the bone marrow and is associated with an IgM monoclonal gammopathy. With an overall incidence of 3 cases per million persons per year, it accounts for approximately 2% of all hematological malignancies. This is the first documented case report of WM in Honduras to receive an MYD88 molecular confirmation. Case description: This case concerns a 58-year-old man evaluated in 2017 who presented with prominent lymphoplasmacytic infiltration of the salivary gland of the lower lip, 3 months of nasal and gum bleeding, severe anemia, leukopenia, episodes of lipothymy, and weight loss. Physical examination revealed bilateral parotid and submandibular enlargement, multiple adenopathies in the neck, thyroid gland alteration, mild hepatomegaly, and massive spleen enlargement. There were high serum levels of TSH, beta 2 microglobulinemia and LDH. Serum electrophoresis and flow cytometry of bone marrow suggested an IgM monoclonal disorder. Molecular confirmation was achieved by detection of the L265P mutation in gene MYD88. The patient received a first chemotherapy regimen of Rituximab, Cyclophosphamide, Adriamycin, Vincristine, Prednisone (R-CHOP) but, due to relapse, a second regimen with CHOP was warranted. After a new relapse patient received Chlorambucil presenting a new relapse. The patient was diagnosed with refractory WM, and is a candidate for receiving ibrutinib, which is not available in Honduras. Conclusion: The scarce casuistry of MW disease in Honduras hinders the timely diagnose and standardized treatment in our medium.