Mantle Cell Lymphoma Relapsing as Disease of Skin, Orbit and CNS: An Extremely Rare Presentation and a Review of Literature

Mantle cell lymphoma (MCL) is a form of non-Hodgkin’s lymphoma originating from mature B cells. The hallmark gene translocation (11:14) results in overexpression of cyclin D1. Affected extranodal sites include bone marrow and gastrointestinal tract, but skin, orbit or CNS are rarely involved. Twenty-four cases have reported involvement of skin by MCL, while orbital MCL is equally rare. Our case is the first to report relapsed MCL with involvement of the skin and orbit simultaneously without disease in the lymphatic system or the bone marrow. A 53-year-old female with stage IV MCL initially presented with pancytopenia, adenopathy and splenomegaly. She achieved complete remission after six cycles of rituximab and bendamustine. Within 4 weeks of treatment, she developed diplopia and a rash of the left breast. Skin biopsy showed lymphoma infiltrates with B-cell markers for MCL. MRI of the orbits and brain suggested orbital lymphoma. CSF cytology further confirmed MCL cells. At time of relapse, she continued to be in hematologic remission. She initiated intrathecal cytarabine and methotrexate along with ibrutinib. R-CHOP was then added to the regimen. Within 2 weeks of starting treatment, her skin disease resolved and she had improvement in vision. MCL commonly presents as a disseminated disease, resulting in high mortality. Involvement of the skin or orbit has been sparingly reported and always suggests aggressive disease. It thus poses a challenge to diagnose and treat the condition as evidenced by resolution of adenopathy and bone marrow disease. Due to the overall poor prognosis of MCL and its unique presentations, as demonstrated by our case, early detection and prompt treatment are crucial to survival.