Description:
Rare hematologic malignancies are neoplastic diseases that hematologists encounter only occasionally. These diseases are often diagnosed late after symptoms persist or standard treatments fail, require multidisciplinary care, individualized treatment plans, strong supportive care, as well as access to experimental therapies. This educational session will review and discuss three rare hematologic malignancies: Langerhans Cell Histiocytosis (LCH), Systemic Mastocytosis (SM), and Amyloidosis. Dr. Abla will cover LCH, a rare inflammatory myeloid neoplasm with a wide spectrum of clinical presentations in children and adults. High-risk patients include those with liver, spleen, bone marrow involvement, refractory/relapsed disease, and those with CNS neurodegeneration. Patients without high-risk disease have excellent survival but are prone to late sequelae. This talk will focus on recent molecular discoveries, management of high-risk patients, MAPK targeted therapies, new and emerging treatment approaches, and unanswered questions in LCH. Dr. Radia will review SM. Over 95% of patients harbor the driver KIT D816V mutation resulting in mast cell accumulation and proliferation leading to variable symptoms due to mast cell mediator release and end-organ damage with advanced disease. Accurate diagnostic and clinical classification is vital to appropriately treat and personalize therapy. Dr. Radia will evaluate diagnostic criteria, clinical classification, risk stratification, and therapeutic options available for patients with non-advanced and advanced SM including multikinase KIT inhibitors. Amyloidosis encompasses diseases characterized by abnormal protein accumulation in organs, leading to heterogeneous and diverse clinical manifestations. Delayed diagnosis is common in amyloidosis, with patients experiencing symptoms for several months to years and consulting multiple specialists before amyloidosis is considered and confirmed. Dr. D’Souza’s session will identify concerning symptoms and signs that should trigger a suspicion of amyloidosis, describe a systems approach to the diagnosis, and outline key steps after a diagnosis of amyloidosis is made.