Department of Proctology, Honliv Hospital, Xinxiang, 453400, Henan Province, China.
Department of Academic Affairs, Xinxiang Medical University, Xinxiang, 453003, Henan Province, China.
BMC Pulm Med. 2024 May 7;24(1):223. doi: 10.1186/s12890-024-03026-5.
Pulmonary fibromatosis (PF) is a specific variant of fibromatosis, which is rarely reported occurring in the lung. PF with HIPK2-YAP1 fusion was a novel entity.
In this report, a 66-year-old male with PF had been smoking over 40 years. Multiple cords and small nodules in both lungs had been detected in a health examination two years earlier at our hospital. But approximately twofold enlarged in the lingual segment of the upper lobe in the left lung were disclosed in this year. Immunohistochemical analysis demonstrated that the vimentin and β-Catenin were positive in the largest nodule. After underwent a DNA/RNA panel next-generation sequencing (NGS), missense mutations and HIPK2-YAP1 fusion were found in this sample. Ultimately, the case diagnosis as PF with HIPK2-YAP1 fusion after multidisciplinary treatment. Currently, the patient is doing well and recurrence-free at 14 months post-surgery.
It's difficult for patients with complex morphology to make accurate diagnosis solely based on morphology and immunohistochemistry. But molecular detection is an effective method for further determining pathological subtypes.
肺纤维瘤病（PF）是纤维瘤病的一种特殊变异型，在肺部很少见。带有 HIPK2-YAP1 融合的 PF 是一种新的实体。
本报告中，一名 66 岁男性，有 40 多年吸烟史。两年前在我院体检时发现双肺多发索条及小结节，今年左肺上叶舌段较前约两倍增大。免疫组化分析显示最大结节中波形蛋白和β-连环蛋白阳性。进行 DNA/RNA panel 下一代测序（NGS）后，在该样本中发现错义突变和 HIPK2-YAP1 融合。最终，多学科治疗后诊断为 PF 伴 HIPK2-YAP1 融合。目前，患者术后 14 个月，情况良好，无复发。
对于形态复杂的患者，仅依靠形态学和免疫组化难以做出准确诊断。但是分子检测是进一步确定病理亚型的有效方法。
