Vounckx Manon, Jansen Yanina J L, Fadaei Sharareh, Geers Caroline, De Pauw Vincent, Smets Dirk
Department of Thoracic Surgery, UZ Brussel, Jette, Belgium.
Laboratory of Respiratory Diseases and Thoracic Surgery (BREATHE), Lung Transplant Unit, Department of Chronic Diseases and Metabolism, KU Leuven, Leuven, Belgium.
JTCVS Open. 2023 Dec 27;17:297-305. doi: 10.1016/j.xjon.2023.12.006. eCollection 2024 Feb.
Diverse cases of inflammatory myofibroblastic tumors (IMTs) in the lung (pleural, endobronchial, and parenchymal) are presented while discussing the (preoperative) diagnostic challenges and treatment modalities. Other objectives include emphasizing the significance of gene rearrangements and highlighting the multidisciplinary approach in addressing IMTs.
Four cases of IMT in the lung are presented, including a young adolescent girl with an ETV6-neurotrophic tyrosine receptor kinase 3 (NTRK3) gene rearrangement, a 5-year-old boy with challenging preoperative diagnosis, and 2 middle-aged women with respectively pleural and endobronchial tumors with one peribronchial relapse.
The cases demonstrate the diverse clinical presentations and diagnostic complexities associated with IMT in the lung. Surgical resection remains the primary treatment modality, with complete resection leading to a cure in most patients. Unfortunately, aggressive relapse can occur, as in our last case of an endobronchial tumor. Frozen section may confirm the presence of malignant cells perioperatively and impact further treatment. The presence of gene rearrangements, such as ETV6-NTRK3, suggests potential therapeutic implications.
Early detection and complete surgical removal of IMT are crucial for effective treatment. Identifying gene rearrangements such as ETV6-NTRK3 holds promise for targeted therapies. Diagnostic challenges, including the controversy of biopsies and preoperative evaluations, underscore the importance of a multidisciplinary approach. Anatomopathological recognition of IMT stays demanding. Close surveillance is necessary due to potential relapse, whereas frozen section perioperatively can help further treatment. This case series emphasizes the diagnostic challenges and therapeutic considerations for IMT in the lung.
本文展示了肺部（胸膜、支气管内和实质）炎症性肌纤维母细胞瘤（IMT）的多种病例，同时讨论（术前）诊断挑战和治疗方式。其他目的包括强调基因重排的重要性，并突出处理IMT的多学科方法。
本文介绍了4例肺部IMT病例，包括1名患有ETV6-神经营养性酪氨酸受体激酶3（NTRK3）基因重排的年轻青春期女孩、1名术前诊断具有挑战性的5岁男孩，以及2名分别患有胸膜和支气管内肿瘤且其中1例伴有支气管周围复发的中年女性。
这些病例展示了与肺部IMT相关的多样临床表现和诊断复杂性。手术切除仍然是主要的治疗方式，大多数患者通过完全切除可实现治愈。不幸的是，如我们最后1例支气管内肿瘤病例所示，可能会发生侵袭性复发。术中冰冻切片可在围手术期确认恶性细胞的存在并影响进一步治疗。基因重排（如ETV6-NTRK3）的存在提示了潜在的治疗意义。
早期发现并完整手术切除IMT对有效治疗至关重要。识别诸如ETV6-NTRK3等基因重排为靶向治疗带来了希望。诊断挑战，包括活检和术前评估的争议，凸显了多学科方法的重要性。对IMT的解剖病理学识别仍然具有挑战性。由于可能复发，密切监测是必要的，而术中冰冻切片有助于进一步治疗。本病例系列强调了肺部IMT的诊断挑战和治疗考量。
