PDF(Pubmed)
Abstract：
BACKGROUND: MEIS1::NCOA2 is a rare fusion gene that has been recently described in a subset of spindle cell rhabdomyosarcomas and multiple low-grade undifferentiated spindle cell sarcomas predominantly arising in the genitourinary and gynecologic tracts with no specific line of differentiation. We present the first documented case of this neoplasm arising as a lung primary tumor.
METHODS: A 74-year-old woman with a 40-year smoking history presented with a 2.1 × 1.7 cm lung nodule discovered on computed tomography (CT) scan. A biopsy and subsequent lobe resection were performed, as well as an extensive metastatic work up, which revealed no additional masses. No specific line of differentiation was found by immunohistochemical staining, and an RNA-based fusion panel revealed a MEIS1::NCOA2 fusion, at which point a diagnosis of Low-Grade Undifferentiated Sarcoma with MEIS1::NCOA2-Rearrangement was rendered.
CONCLUSIONS: This report represents the first diagnosis of this tumor primary to the lung, and provides additional insight into the origin and localization of these rare tumors.
METHODS: A 74-year-old woman with a 40-year smoking history presented with a 2.1 × 1.7 cm lung nodule discovered on computed tomography (CT) scan. A biopsy and subsequent lobe resection were performed, as well as an extensive metastatic work up, which revealed no additional masses. No specific line of differentiation was found by immunohistochemical staining, and an RNA-based fusion panel revealed a MEIS1::NCOA2 fusion, at which point a diagnosis of Low-Grade Undifferentiated Sarcoma with MEIS1::NCOA2-Rearrangement was rendered.
CONCLUSIONS: This report represents the first diagnosis of this tumor primary to the lung, and provides additional insight into the origin and localization of these rare tumors.
摘要：
背景：MEIS1::NCOA2是一种罕见的融合基因，最近在梭形细胞横纹肌肉瘤和多个低度未分化的梭形细胞肉瘤的一个子集中被描述，主要出现在泌尿生殖道和妇科，没有特定的分化线。我们介绍了第一例记录的这种肿瘤作为肺原发性肿瘤出现的病例。
方法：一名74岁女性，有40年吸烟史，在计算机断层扫描（CT）扫描中发现2.1×1.7cm的肺结节。进行了活检和随后的肺叶切除，以及广泛的转移性工作，这显示没有额外的质量。通过免疫组织化学染色未发现特定的分化线，基于RNA的融合小组显示了MEIS1::NCOA2融合，此时诊断为MEIS1::NCOA2-重排低度未分化肉瘤。
结论：该报告代表了原发性肺肿瘤的首次诊断，并提供了对这些罕见肿瘤的起源和定位的额外见解。
方法：一名74岁女性，有40年吸烟史，在计算机断层扫描（CT）扫描中发现2.1×1.7cm的肺结节。进行了活检和随后的肺叶切除，以及广泛的转移性工作，这显示没有额外的质量。通过免疫组织化学染色未发现特定的分化线，基于RNA的融合小组显示了MEIS1::NCOA2融合，此时诊断为MEIS1::NCOA2-重排低度未分化肉瘤。
结论：该报告代表了原发性肺肿瘤的首次诊断，并提供了对这些罕见肿瘤的起源和定位的额外见解。
