Leiomyoma with nuclear atypia: Rare diseases that present a common diagnostic problem.

Leiomyoma with nuclear atypia: Rare diseases that present a common diagnostic problem.
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DOI:
10.1053/j.semdp.2022.01.006
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发表时间:
2022-05
影响因子:
2.3
通讯作者:
--
中科院分区:
医学3区
文献类型:
--
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核异型性平滑肌瘤描述了一组具有广泛的组织学和临床表现和显著的核异型性的子宫平滑肌肿瘤。这些包括富马酸水合酶缺陷型平滑肌瘤(FH-LM)、静脉内平滑肌瘤病(IV-LM)和奇异核平滑肌瘤(LM-BN)。其他子宫间质肿瘤,如血管周围上皮样肿瘤(PEComa)和炎性肌纤维母细胞肿瘤(IMFT)是核异型性平滑肌瘤的模拟物。LM-BN是妇科病理的原发肿瘤模型,历史悠久,但LM-BN的组织发生机制尚不清楚。鉴别LM-BN与其他良性变异、不确定恶性潜能的肿瘤(STUMP)或完全恶性平滑肌肉瘤(LMS)在诊断上具有挑战性。最近的进展改进了许多类型的核异型性平滑肌瘤的诊断基于其特定的组织学和分子改变。LM-BN现在被诊断为排斥。在这篇文章中,我回顾了核异型性平滑肌瘤的历史,并比较了LM-BN与其相似物的临床、组织学和分子特征。特别地,我强调了目前在分子遗传学方面取得的进展,以及在诊断不同核异型性肌源性肿瘤中的缺陷。
Leiomyoma with nuclear atypia describes a group of uterine smooth muscle tumors with a wide range of histologic and clinical presentations and remarkable nuclear atypia. These include fumarate hydratase-deficient leiomyoma (FH-LM), intravenous leiomyomatosis (IV-LM), and leiomyoma with bizarre nuclei (LM-BN). Other uterine mesenchymal tumors, such as perivascular epithelioid tumor (PEComa) and inflammatory myofibroblastic tumors (IMFT) are the mimickers of leiomyoma with nuclear atypia. LM-BN is the primary tumor model with a long history in gynecologic pathology, but the histogenesis of LM-BN remains largely unknown. Differentiating LM-BN from other benign variants, tumors with uncertain malignant potential (STUMP), or fully malignant leiomyosarcoma (LMS) can be diagnostically challenging. Recent progress has improved the diagnosis of many types of leiomyoma with nuclear atypia based on their specific histology and molecular alterations. LM-BN is now a diagnosis of exclusion. In this article, I review the history of leiomyoma with nuclear atypia and compare the clinical, histologic, and molecular features of LM-BN with those of its mimics. In particular, I highlight the current progress made in molecular genetics and pitfalls in the diagnosis of different myogenic tumors with nuclear atypia.
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