Patients With Spontaneous Remission Of High-risk Mds And Aml Show Persistent Preleukemic Clonal Hematopoiesis

Grunwald, V. V. 2019Leukemia

Grunwald, V. V., Hentrich, M., Schiel, X., Dufour, A., Schneider, S., Neusser, M., Subklewe, M., Fiegl, M., Hiddemann, W., Spiekermann, K., Rothenberg-Thurley, M., & Metzeler, K. H. (2019). Patients with spontaneous remission of high-risk MDS and AML show persistent preleukemic clonal hematopoiesis. Blood advances, 3(18), 2696–2699. https://doi.org/10.1182/bloodadvances.2019000265

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Abstract

We report longitudinal mutational analyses of 2 patients with high-risk MDS and AML experiencing spontaneous disease remissions. Both patients had persistent clonal hematopoiesis during remission, harboring all but 1 of the mutations from the initial diagnostic sample.

Case Details

Disease Location

Bone marrow, skin

Personal Characteristics

72-year-old man, ischemic and valvular heart disease and chronic kidney disease.

Clinical Characteristics

Hospitalized for decompensated congestive heart failure. Laboratory testing revealed anemia and thrombocytopenia. Bone marrow aspiration showed marrow infiltration by 85% myeloblasts, and the patient was diagnosed with acute myeloid leukemia (aml) with a normal karyotype and mutated npm1. He received 5 units of packed red blood cells. Three skin lesions on the abdomen and back were suggestive of extramedullary disease. Seven weeks after initial presentation, histologic examination of a skin lesion showed infiltration by myeloid blasts.

Remission Characteristics

His blood counts improved spontaneously, he became transfusion independent, and his skin lesions disap- peared without antileukemic treatment. Eleven weeks after the initial presentation, repeat bm aspiration and biopsy showed no evi- dence of aml, and quantitative polymerase chain reaction (qpcr) testing for mutated npm1 was negative