肺透明细胞间质瘤:8 例病例的临床病理学、免疫组织化学和分子特征分析

IF 7.1 1区 医学 Q1 PATHOLOGY Modern Pathology Pub Date : 2024-10-16 DOI:10.1016/j.modpat.2024.100632
Igor Odintsov, Alexandra Isaacson, Karen J Fritchie, Yin P Hung, Pooria Khoshnoodi, Lynette M Sholl, Christopher D M Fletcher, William J Anderson
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引用次数: 0

摘要

透明细胞基质瘤(CCST)是最近描述的一种肺间质肿瘤,其特征是纺锤形细胞,胞浆由透明到淡嗜酸性不等,血管突出,大多数病例中反复出现YAP1::TFE3基因融合。由于该病罕见,且缺乏除 TFE3 以外的辅助免疫组化标记物,因此诊断极具挑战性。迄今为止,报道的病例不到 20 例,有关临床表现的数据也很有限。虽然大多数病例似乎是良性的,但很少有侵袭性行为的报道。在这里,我们介绍了迄今为止最大的 CCST 多机构系列病例,共有 8 例,其中包括 6 例以前未发表的病例。我们对其临床病理和基因组特征进行了研究,同时还评估了YAP1 C-末端(YAP-CT)免疫组化(IHC)的诊断效用。五例患者为男性,三例为女性。中位年龄为 59 岁(35 - 84 岁)。所有病例均通过 FISH 或 DNA / RNA 测序证实存在 TFE3 重排。在 7 例肿瘤中,通过测序确定了 YAP1::TFE3 融合。我们证明,通过 IHC 将 YAP1-CT 缺失和 TFE3 过表达结合起来,可以可靠地预测这些肿瘤中潜在的 YAP1::TFE3 融合,而且可能比 TFE3 FISH 更敏感。虽然我们研究的中位随访时间较短(18 个月,共 7 例),但所有病例的临床过程均为良性,无复发或转移。我们的研究为这一新型实体提供了进一步的特征描述,支持其得到更广泛的认可。
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Clear Cell Stromal Tumor of the Lung: Clinicopathologic, Immunohistochemical, and Molecular Characterization of Eight Cases.

Clear cell stromal tumor is a recently described mesenchymal neoplasm of the lung, characterized by spindle cells with variably clear-to-pale eosinophilic cytoplasm and prominent vascularity, as well as a recurrent YAP1::TFE3 gene fusion in most cases. Diagnosis can be challenging given its rarity and the lack of supportive immunohistochemical (IHC) markers aside from TFE3. To date, less than 20 cases have been reported, and data on clinical behavior are also limited. Although most appear to be benign, aggressive behavior has been reported rarely. In this study, we present the largest multiinstitutional series of clear cell stromal tumor to date, comprising a total of 8 cases and including 6 previously unpublished cases. We investigate its clinicopathologic and genomic features, while also assessing the diagnostic use of IHC for YAP1 C-terminus. Five patients were men and 3 were women. The median age was 59 years (range: 35-84 years). In all cases, a TFE3 rearrangement was demonstrated by either fluorescence in situ hybridization or DNA/RNA sequencing. In 7 tumors, the YAP1::TFE3 fusion was identified by sequencing. We demonstrate that the combination of YAP1 C-terminus loss and TFE3 overexpression using IHC reliably predicts an underlying YAP1::TFE3 fusion in these neoplasms and may be more sensitive than TFE3 fluorescence in situ hybridization. Although the median follow-up time for our study was short (18 months, available in 7 cases), all cases pursued a benign clinical course, with no recurrences or metastases. Our study provides further characterization of this novel entity, supporting its wider recognition.

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来源期刊
Modern Pathology
Modern Pathology 医学-病理学
CiteScore
14.30
自引率
2.70%
发文量
174
审稿时长
18 days
期刊介绍: Modern Pathology, an international journal under the ownership of The United States & Canadian Academy of Pathology (USCAP), serves as an authoritative platform for publishing top-tier clinical and translational research studies in pathology. Original manuscripts are the primary focus of Modern Pathology, complemented by impactful editorials, reviews, and practice guidelines covering all facets of precision diagnostics in human pathology. The journal's scope includes advancements in molecular diagnostics and genomic classifications of diseases, breakthroughs in immune-oncology, computational science, applied bioinformatics, and digital pathology.
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