Research and practice in thrombosis and haemostasis · 2026
Ras-associated autoimmune leukoproliferative disorder associated with immune thrombotic thrombocytopenic purpura.
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Carter Matthew A, Innes Andrew J, Sen Monica, Nadal-Melsio Elisabet, Luqmani Asad, Apperley Jane F, Scully Marie
Аннотация
BACKGROUND: Ras-associated autoimmune leukoproliferative disorder (RALD) is a rare, nonmalignant condition characterized by monocytosis, lymphoproliferation, and autoimmunity, driven by KRAS or NRAS variants. Immune thrombotic thrombocytopenic purpura (iTTP) results from autoantibodies against ADAMTS13 (a disintegrin and metalloproteinase with a thrombospondin type 1 motif, member 13).
KEY CLINICAL QUESTION: Can RALD co-occur with iTTP, and how can it be diagnosed?
CLINICAL APPROACH: A patient presenting with neutropenia, monocytosis, and thrombocytopenia was initially diagnosed with chronic myelomonocytic leukemia. She later developed splenomegaly, lymphadenopathy, and iTTP. Reevaluation identified a somatic KRAS G12A variant in peripheral blood, prompting a diagnosis of RALD. Flow cytometry demonstrated immunophenotypic changes involving B cells, T cells, and monocytes. The patient had four ADAMTS13 relapses, responsive to rituximab.
CONCLUSION: This case highlights co-occurrence of RALD and iTTP, extending the spectrum of Ras-associated autoimmune cytopenias.
KEY CLINICAL QUESTION: Can RALD co-occur with iTTP, and how can it be diagnosed?
CLINICAL APPROACH: A patient presenting with neutropenia, monocytosis, and thrombocytopenia was initially diagnosed with chronic myelomonocytic leukemia. She later developed splenomegaly, lymphadenopathy, and iTTP. Reevaluation identified a somatic KRAS G12A variant in peripheral blood, prompting a diagnosis of RALD. Flow cytometry demonstrated immunophenotypic changes involving B cells, T cells, and monocytes. The patient had four ADAMTS13 relapses, responsive to rituximab.
CONCLUSION: This case highlights co-occurrence of RALD and iTTP, extending the spectrum of Ras-associated autoimmune cytopenias.