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

Personal Characteristics

59-year-old man

Clinical Characteristics

Was evaluated for a suspected rheumatologic disorder. He reported pain in his small joints, night sweats, and generalized exanthema that had started 3 weeks earlier and had improved with low-dose oral steroids and brine bath therapy. Laboratory tests showed neutropenia, mild anemia, and thrombocytopenia. Bone marrow aspirate was hypocellular with dysplastic erythropoiesis and 3% myeloblasts, consistent with a diagnosis of mds, with a normal karyotype. On histologic examination of a bone marrow trephine biopsy, 30% to 35% CD341/CD1171 blasts were noted. A repeat bm aspiration (day 18) revealed 18% myeloblasts, and a diagnosis of myelodysplastic syndrome (mds) with excess blasts was made. Seven months after initial presentation, the disease recurred. The patient received sequential high-dose cytarabine and mitoxantrone.

Remission Characteristics

At follow-up visits 5 and 8 weeks later, his blood counts had normalized, and he continued to receive low-dose oral corticosteroids for polyarthritis with proximal interphalangeal joint and ankle pain. At the second visit (day 75), bm aspiration and biopsy showed normal trilineage hematopoiesis without dysplasia or excess blasts.