髓系肿瘤伴PDGFRA重排表现为臼齿后垫块。

Head and neck pathology Pub Date : 2021-12-01 Epub Date: 2021-02-22 DOI:10.1007/s12105-021-01305-9
Amy S Duffield, Jonathan Webster, B Douglas Smith, Julius S Necciai, Austin McCuiston, Alisha D Ware
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引用次数: 1

摘要

髓系肿瘤与PDGFRA重排是罕见的,最常见的表现为慢性嗜酸性白血病的特征;然而,它们很少表现为急性髓性或淋巴细胞白血病。患者通常表现为嗜酸性细胞增多症的症状,包括心血管和肺部症状。肥大细胞增多也是本病的共同特征,血清胰蛋白酶升高可能与全身性肥大细胞增多症有明显的临床重叠。在此,我们报告一例罕见的髓系肿瘤伴PDGFRA重排,表现为磨牙后垫块,患者既往诊断为系统性肥大细胞增多症。本病例强调了PDGFRA重排于口腔的髓系肿瘤累及软组织的可能性。这种实体的识别具有重要的临床意义,因为许多患者可以有效地治疗酪氨酸激酶抑制剂。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

Myeloid Neoplasm with PDGFRA Rearrangement Manifesting as a Retromolar Pad Mass.

Myeloid Neoplasm with PDGFRA Rearrangement Manifesting as a Retromolar Pad Mass.

Myeloid neoplasms with PDGFRA rearrangement are rare, and most commonly present with features of chronic eosinophilic leukemia; however, they rarely manifest as acute myeloid or lymphoblastic leukemia. Patients typically present with symptoms of hypereosinophilia including cardiovascular and pulmonary symptoms. An increase in mast cells is also a common feature of this disease, and there may be elevated serum tryptase with significant clinical overlap with systemic mastocytosis. Here, we present an unusual case of a myeloid neoplasm with PDGFRA rearrangement manifesting as a retromolar pad mass in a patient with a prior diagnosis of systemic mastocytosis. This case highlights the possibility of soft tissue involvement by myeloid neoplasms with PDGFRA rearrangement in the oral cavity. The identification of this entity is of significant clinical importance because many patients can be effectively treated with tyrosine kinase inhibitors.

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