Cassandra P Wang, Juanita E Ferreira, Alexander Placek, Paibel Aguayo-Hiraldo, Gordana Raca, Brent L Wood, Karin P Miller, Thomas Coates, David R Freyer, Alexandra E Kovach
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引用次数: 0
Abstract
Germline variants of the RUNX1 gene are associated with RUNX1 Familial Platelet Disorder with Associated Myeloid Malignancies (RUNX1-FPDMM), which is characterized by an increased risk of developing myelodysplastic syndrome (MDS) and/or acute myeloid leukemia. Patients with FPDMM have also been described to develop B- or T-cell acute lymphoblastic leukemia. We present a pediatric patient with RUNX1-FPDMM that evolved into concurrent MDS and T-cell acute lymphoblastic leukemia after a decade of monitoring with serial blood counts. We aim to highlight the treatment challenges and clinical decision-making that may be anticipated in this unique disorder, as well as the potentially curative role for allogenic hematopoietic stem cell transplant in the first complete remission.
RUNX1 基因的种系变异与 RUNX1 家族性血小板紊乱伴骨髓恶性肿瘤(RUNX1-FPDMM)有关,其特点是罹患骨髓增生异常综合征(MDS)和/或急性髓系白血病的风险增加。据描述,FPDMM 患者还可能罹患 B 细胞或 T 细胞急性淋巴细胞白血病。我们介绍了一名患有RUNX1-FPDMM的儿科患者,经过十年的连续血细胞计数监测,该患者演变为并发MDS和T细胞急性淋巴细胞白血病。我们旨在强调这种独特疾病可能面临的治疗挑战和临床决策,以及异基因造血干细胞移植在首次完全缓解中的潜在治疗作用。
期刊介绍:
Leukemia & Lymphoma in its fourth decade continues to provide an international forum for publication of high quality clinical, translational, and basic science research, and original observations relating to all aspects of hematological malignancies. The scope ranges from clinical and clinico-pathological investigations to fundamental research in disease biology, mechanisms of action of novel agents, development of combination chemotherapy, pharmacology and pharmacogenomics as well as ethics and epidemiology. Submissions of unique clinical observations or confirmatory studies are considered and published as Letters to the Editor