ALK-positive ALCL: first described adult case of synchronous CNS and systemic involvement at presentation: a case report and review of the literature

BACKGROUND: Anaplastic large cell lymphoma (ALCL) represents a group of heterogenous CD30+ mature T Cell lymphomas, which vary in their clinical, histological, and molecular characteristics. A majority of ALCL are ALK positive, which is characterised by translocation t(2;5) leading to the fusion of the ALK gene to the nucleophosmin gene. CNS presentations of ALCL are rare and restricted to case reports. A synchronous CNS and systemic presentation in an adult has never been reported. CASE PRESENTATION: A 31-year-old woman presented with headache and tonic-clonic seizures. MRI revealed a 15-mm enhancing left frontal convexity lesion with broad dural contact. A left frontal craniotomy was performed, and pathological analysis was conducted. Initially the diagnosis was unclear, with the most likely diagnosis being thought to be ALK-positive histiocytosis, with a differential of ALK-positive ALCL. The patient was treated with a modified MARIETTA protocol (without rituximab) and consolidated with a carmustine-based autologous stem cell transplant. End of treatment PET-CT and MRI brain showed a complete metabolic response. shows complete metabolic response on PET-CT and MRI brain. CONCLUSIONS: This case presents the first successful treatment of a synchronous presentation of CNS and systemic ALK-positive ALCL, and the importance of a multidisciplinary approach for diagnosis.