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一例伴有 19 三体的费城染色体阳性慢性髓性白血病伴巨核母细胞增生和骨髓纤维化的不典型病例。

An unusual case of Philadelphia chromosome-positive chronic myelogenous leukemia with trisomy 19 presenting with megakaryoblastosis and myelofibrosis.

机构信息

Department of Pathology, Beth Israel Deaconess Medical Center, Boston, Massachusetts 02215, USA.

出版信息

Arch Pathol Lab Med. 2013 Aug;137(8):1147-51. doi: 10.5858/arpa.2012-0151-CR.

Abstract

Initial identification of chronic myelogenous leukemia is very important since targeted therapy leads to life-saving remission. Rarely, chronic myelogenous leukemia presents with an unusual picture, making the diagnosis challenging. We describe such a case of chronic myelogenous leukemia in blast crisis in a previously healthy 61-year-old woman. The patient presented with fever, myalgias, and night sweats and was first worked up for an infectious etiology. Because of persistent anemia, a bone marrow biopsy was performed that revealed fibrosis with increased megakaryoblasts. Even though initial cytogenetic studies could not be performed because of "dry tap" aspirate, persistent efforts for cytogenetic studies were made, including a "squeeze preparation" from the core biopsy, which revealed t(9;22)(q34;q11.2) and trisomy 19. The patient was treated with tyrosine kinase inhibitors, chemotherapy, and subsequently an allogeneic stem cell transplant. She is in persistent remission. This case illustrates a complex presentation of chronic myelogenous leukemia and provides an overview of morphologic cues and the importance of performing cytogenetic studies that led to the diagnosis.

摘要

慢性髓性白血病的早期诊断非常重要,因为靶向治疗可带来救命的缓解。罕见情况下,慢性髓性白血病的表现形式不典型,导致诊断具有挑战性。我们描述了一例此前健康的 61 岁女性处于急变期的慢性髓性白血病。该患者表现为发热、肌痛和盗汗,并首先进行了感染病因的检查。由于持续性贫血,进行了骨髓活检,结果显示纤维化伴巨核母细胞增多。尽管由于“干抽”抽吸物而无法进行初始细胞遗传学研究,但仍持续努力进行细胞遗传学研究,包括从核心活检进行的“挤压制备”,结果显示 t(9;22)(q34;q11.2)和 19 号三体。该患者接受了酪氨酸激酶抑制剂、化疗,随后进行了异基因干细胞移植。她持续缓解。该病例说明了慢性髓性白血病的复杂表现,并概述了形态学线索和进行细胞遗传学研究的重要性,这些研究导致了诊断。

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