Tarantini Francesco, Cumbo Cosimo, Zagaria Antonella, Parciante Elisa, Anelli Luisa, Coccaro Nicoletta, Tota Giuseppina, Minervini Crescenzio Francesco, Redavid Immacolata, Rossi Antonella Russo, Conserva Maria Rosa, Specchia Giorgina, Musto Pellegrino, Albano Francesco
Department of Emergency and Organ Transplantation (D.E.T.O.) - Hematology and Stem Cell Transplantation Unit, University of Bari "Aldo Moro", Bari, Italy.
School of Medicine, University of Bari "Aldo Moro", Bari, Italy.
Hematology. 2022 Dec;27(1):842-846. doi: 10.1080/16078454.2022.2108902.
and V617F coexistence in myeloproliferative neoplasms has been described as concomitant or sequential events. Despite this, we present a unique case of chronic myeloid leukemia (CML) not referable to either of the known scenarios.
molecular monitoring was performed by real-time quantitative PCR (RQ-PCR). At the time of molecular relapse, a targeted next-generation sequencing analysis with a customized panel of 26 genes commonly mutated in myeloid diseases was performed. To investigate the kinetics of the variant and its association with the rearrangement, RQ-PCR was performed at different time points during the patient's follow-up.
While negative at CML diagnosis, the mutation was first detected 9 years later (VAF: 7.2%). The mutational burden of remained stable in multiple determinations, with minor fluctuations independent of kinetics. At the last available time point, the patient was in deep molecular response (MR4), the mutational burden was 7%, and no clinical-laboratory findings of Ph-MPN were detectable.
In the presented case, the variantoccurring during the course of the disease seems to stay in the shadows of CML, just as a bystander. The impact of this event (that may be considered suggestive of clonal hematopoiesis of indeterminate potential) on the disease outcome, even if seemingly irrelevant, has still to be explored.
骨髓增殖性肿瘤中 JAK2 V617F 共存已被描述为伴随或相继发生的事件。尽管如此，我们报告了一例独特的慢性髓性白血病（CML）病例，不符合任何一种已知情况。
通过实时定量 PCR（RQ-PCR）进行分子监测。在分子复发时，使用定制的包含 26 种髓系疾病常见突变基因的面板进行靶向二代测序分析。为了研究该变体的动力学及其与 BCR-ABL1 重排的关联，在患者随访期间的不同时间点进行了 RQ-PCR。
在 CML 诊断时为阴性，JAK2 突变在 9 年后首次检测到（VAF：7.2%）。JAK2 的突变负担在多次测定中保持稳定，有轻微波动，与 BCR-ABL1 动力学无关。在最后一个可用时间点，患者处于深度分子反应（MR4），JAK2 突变负担为 7%，未检测到 Ph-MPN 的临床实验室结果。
在本病例中，疾病过程中出现的 JAK2 变体似乎像旁观者一样处于 CML 的阴影中。这一事件（可能提示不确定潜能的克隆性造血）对疾病结局的影响，即使看似无关紧要，仍有待探索。
