三阴性原发性血小板增多症和双转录慢性髓性白血病共存1例报告。

IF 1.4 Q4 ONCOLOGY Molecular and clinical oncology Pub Date : 2023-09-01 DOI:10.3892/mco.2023.2663
Rachaita Lakra, Shiva J Gaddam, Poornima Ramadas
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引用次数: 0

摘要

慢性骨髓增生性肿瘤(MPN)包括真性红细胞增多症(PV)、原发性骨髓纤维化、原发性血小板增多症(ET)和慢性髓性白血病(CML)。重叠的mpn很少见;然而,它们可以发生在同一个人身上。本病例报告描述了一个三阴性ET和CML的患者。自2000年以来,一名64岁的女性在路易斯安那州立大学什里弗波特分校(Shreveport, LA, USA) Feist Weiller癌症中心的血液学诊所接受随访,她被诊断为jak2v617f阴性ET。患者在羟基羟基羟基上保持稳定,直到2012年,当他们接受骨髓活检时发现白细胞计数逐渐增加,病理与CML一致;BCR-ABL PCR检测P210和P190转录本均呈阳性。患者开始使用达沙替尼。在达沙替尼之后,他们接受了伊马替尼的试验,后来由于血小板增加不变,他们过渡到尼洛替尼,最后到博舒替尼(2019)。2019年骨髓活检的新一代测序显示,EZH2突变可能与三阴性ET相关。当时CML是主要的分子反应。患者继续服用博舒替尼和羟基脲,之后由于贫血恶化和持续的血小板增多,羟基脲改为阿纳格列特。然而,博舒替尼和阿纳格列因肺动脉高压恶化而停用。流式细胞术发现患者外周血母细胞率为14%,之后于2022年进行了重复骨髓活检,结果显示广泛的骨髓纤维化。BCR-ABL转录本未检测到。鉴于骨髓纤维化加速,患者于2022年6月开始使用低甲基化药物地西他滨/cedazuridine和达贝泊汀治疗贫血。鉴于其持续的血小板增多,患者也开始使用聚乙二醇干扰素α。大多数报道同一患者的两个克隆过程的研究都是针对PV和CML。据我们所知,这是同一个体中首次报道的三阴性ET合并双转录CML病例。
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Co‑existence of triple‑negative essential thrombocythemia and double transcript chronic myeloid leukemia: A case report.

Chronic myeloproliferative neoplasms (MPN) include polycythemia vera (PV), primary myelofibrosis, essential thrombocythemia (ET) and chronic myeloid leukemia (CML). Overlapping MPNs are rare; however, they can occur in the same individual. The present case report describes a patient with both triple-negative ET and CML. A 64-year-old woman was followed-up at our hematology clinic at Feist Weiller Cancer Center, Louisiana State University Health Shreveport (Shreveport, LA, USA) since 2000 after she was diagnosed with JAK2V617F-negative ET. The patient remained stable on hydroxyurea until 2012, when they underwent a bone marrow biopsy for progressively increasing white blood cell counts, and the pathology was consistent with CML; PCR for BCR-ABL was positive for both P210 and P190 transcripts. The patient was then initiated on dasatinib. After dasatinib, they were given a trial of imatinib, and were later transitioned to nilotinib and finally to bosutinib (2019) due to unchanged thrombocytosis. Next-generation sequencing from a bone marrow biopsy in 2019 demonstrated an EZH2 mutation that may be associated with triple-negative ET. CML was in major molecular response at that time. The patient was continued on bosutinib with hydroxyurea, after which hydroxyurea was changed to anagrelide due to worsening anemia and persistent thrombocytosis. However, bosutinib and anagrelide were discontinued due to worsening pulmonary hypertension. The patient was noted to have peripheral blasts of 14% by flow cytometry, after which they underwent a repeat bone marrow biopsy in 2022, which showed extensive myelofibrosis. BCR-ABL transcripts were undetectable. Given their accelerated myelofibrosis, the patient was started on a hypomethylating agent, decitabine/cedazuridine, along with darbepoetin for anemia in June 2022. Given their persistent thrombocytosis, the patient was also started on peginterferon α. Most studies reporting two clonal processes in the same patient have been for PV and CML. To the best of our knowledge, this is the first reported case of triple-negative ET with double transcript CML in the same individual.

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