RESUMO
Diffuse large B-cell lymphoma (DLBCL) is a high-grade B-cell lymphoma that most commonly presents with lymph node involvement. Extranodal manifestations are seen in around 40% of the cases involving the gastrointestinal tract, thyroid, testes, brain, and breast, among many others. However, penile metastasis is extremely rare and often overlooked in routine clinical evaluations. We present the unique case of a 79-year-old man with a history of DLBCL with extranodal involvement who achieved remission after completing five cycles of chemotherapy and presented eight months later with a new penile mass. A PET-CT scan of the skull to mid-thigh revealed bilateral pulmonary nodules, multiple lesions in the pancreas, retroperitoneal nodules, and an increased uptake at the base of the penis, leading to a biopsy of the penile mass that confirmed recurrent DLBCL with penile metastasis. The patient subsequently underwent surgical excision of the lesion and additional chemotherapy. This case underscores the importance of considering atypical sites of involvement in DLBCL patients and emphasizes the need for a timely diagnostic workup to ensure early detection and accurate diagnosis. By raising awareness of this rare manifestation and promoting comprehensive evaluations, we can potentially improve patient outcomes and facilitate the development of more effective treatment strategies.
RESUMO
Common variable immunodeficiency (CVID) is a primary immunodeficiency disorder caused by impaired B-cell function and antibody production. It commonly presents with chronic sinopulmonary and gastrointestinal manifestations. It is also associated with transformation to acute myeloid leukemia. However, the association of CVID with myelodysplastic syndrome (MDS) is rare. This case report aims to present one such rare association in a 26-year-old patient presenting with severe thrombocytopenia. Bone marrow biopsy revealed hypercellular marrow with 80-90% cellularity along with an increase in CD34 blasts. Cytogenetics revealed loss of the Y chromosome. Diagnosis of MDS with excess blasts-2 was confirmed with a Revised International Prognostic Scoring System score of 4, placing the patient in the intermediate-risk category. The patient was started on azacitidine, a hypomethylating agent. A referral to a bone marrow transplant was also done for the consideration of an allogeneic stem cell transplant.