Department of Pathology and Laboratory Medicine, Dartmouth Hitchcock Medical Center, Lebanon, NH, USA.
Geisel School of Medicine at Dartmouth, Hanover, NH, USA.
Head Neck Pathol. 2024 Oct 14;18(1):93. doi: 10.1007/s12105-024-01700-y.
Mesenchymal neoplasms composed of vascular, smooth muscle, and adipocytic components are uncommon in the nasal cavity. While angioleiomyoma (AL) is a smooth muscle tumor in the Head & Neck WHO classification, it is considered of pericytic origin in the Skin as well as Soft Tissue and Bone classifications. For nasal AL with an adipocytic component, the terms AL with adipocytic differentiation and angiomyolipoma (AML) have been applied, among others. AML is a type of perivascular epithelioid cell tumor (PEComa), most often arising in the kidney, sometimes associated with the tuberous sclerosis complex (TSC). It is uncertain whether nasal cavity AML and AL are best considered hamartomas or neoplasms, as their genetics are largely unexplored.
We performed a multi-institutional retrospective study of nasal cavity mesenchymal lesions. Patient demographics, clinical histories, and histologic and immunohistochemical findings were collected. DNA and RNA were extracted from formalin-fixed, paraffin-embedded tissue and analyzed by SNP-based chromosomal microarray, targeted RNA fusion sequencing, and whole-exome sequencing.
Fifteen lesions (3-42 mm) were identified, predominantly in male (87%) patients with a median age of 60. Patients typically presented with obstructive symptoms, and none had a history of TSC. One AL was a recurrence from six years prior; 11 cases showed no recurrence (median 4.7 years, range: 0.88-12.4). Morphologically, 11 AML contained 30-80% smooth muscle, 10-25% vasculature, and 2-60% adipose tissue, while four AL contained 70-80% smooth muscle and 20-30% vasculature. Other histologic observations included ulceration, thrombosis, inflammation, myxoid change, senescent nuclei, and extramedullary hematopoiesis; no well-developed epithelioid cell morphology was identified. Immunohistochemically, all cases were positive for smooth muscle markers (actin, desmin, and/or caldesmon) and negative for melanocytic markers. Molecular analysis revealed loss of 3p and 11q in a single AML. No other known pathogenic copy number or molecular alterations were seen, including in TSC1/2, TFE3, or NOTCH2.
Nasal cavity AML lacks morphologic, immunophenotypic, and genetic features of PEComa family AML. The significant histologic overlap between nasal AML and AL without distinguishing molecular features in either entity suggests "sinonasal angioleiomyoma with adipocytic differentiation" may be the most appropriate terminology for hybrid vascular and smooth muscle lesions containing adipocytic components.
鼻腔内由血管、平滑肌和脂肪细胞成分组成的间叶性肿瘤并不常见。虽然血管平滑肌脂肪瘤（AL）是头颈部世界卫生组织分类中的平滑肌肿瘤，但在皮肤以及软组织和骨分类中被认为是周细胞起源的。对于具有脂肪细胞成分的鼻 AL，已经应用了具有脂肪细胞分化的 AL 和血管平滑肌脂肪瘤（AML）等术语。AML 是一种血管周围上皮样细胞瘤（PEComa），最常发生于肾脏，有时与结节性硬化症复合征（TSC）相关。鼻腔 AML 和 AL 是否最好被视为错构瘤或肿瘤尚不确定，因为它们的遗传学在很大程度上尚未被探索。
我们对鼻腔间叶性病变进行了多机构回顾性研究。收集了患者的人口统计学、临床病史以及组织学和免疫组织化学发现。从福尔马林固定、石蜡包埋的组织中提取 DNA 和 RNA，并通过基于 SNP 的染色体微阵列、靶向 RNA 融合测序和全外显子组测序进行分析。
共确定了 15 个病变（3-42mm），主要发生在中位年龄为 60 岁的男性（87%）患者中。患者通常表现为阻塞症状，且均无 TSC 病史。一个 AL 是六年前复发的；11 例无复发（中位 4.7 年，范围：0.88-12.4 年）。形态上，11 例 AML 含有 30-80%的平滑肌、10-25%的血管和 2-60%的脂肪组织，而 4 例 AL 含有 70-80%的平滑肌和 20-30%的血管。其他组织学观察包括溃疡、血栓形成、炎症、黏液样变、衰老核和骨髓外造血；未见发育良好的上皮样细胞形态。免疫组织化学染色均为平滑肌标志物（肌动蛋白、结蛋白和/或钙调蛋白）阳性，黑色素细胞标志物阴性。分子分析显示单个 AML 存在 3p 和 11q 的缺失。未发现其他已知的致病性拷贝数或分子改变，包括 TSC1/2、TFE3 或 NOTCH2。
鼻腔 AML 缺乏 PEComa 家族 AML 的形态学、免疫表型和遗传学特征。鼻腔 AML 和 AL 之间存在显著的组织学重叠，而在这两种实体中均没有鉴别分子特征，这表明“具有脂肪细胞分化的鼻血管平滑肌脂肪瘤”可能是包含脂肪细胞成分的混合性血管和平滑肌病变的最合适术语。
