Cardesa-Salzmann Teresa M, Sparber-Sauer Monika, Hingst Peter, Erbersdobler Andreas, Schneider Bjoern, Hühns Maja, Jakob Andre, Terpe Friederike, Spang Christian, Stalmann Dorothea, Bierwirth Claudia, Hauenstein Christina, Märzheuser Stefanie, Ballmann Manfred, Classen Carl Friedrich
Department of Pediatric Hematology & Oncology, Klinik für Kinder- Und Jugendmedizin, Universitätsmedizin Rostock, Rostock, Germany.
Department of Pediatric Hematology & Oncology, Zentrum für Kinder Und Jugendmedizin, Klinikum Stuttgart- Olgaspital, Stuttgart Cancer Center, Stuttgart, Germany.
Head Neck. 2025 May;47(5):E50-E57. doi: 10.1002/hed.28058. Epub 2024 Dec 30.
Infantile fibrosarcoma (IFS) is a rare pediatric tumor of intermediate malignancy with high local aggressiveness that typically presents in young infants. Its occurrence in the head and neck region is rare. Complete non-mutilating surgical resection is often not possible, requiring multimodal treatment. IFS frequently harbors neurotrophic receptor tyrosine kinase (NTRK) fusions. Targeted therapy with NTRK inhibitors is modifying treatment paradigms of IFS.
Herein, we report the case of a neonate with a giant unresectable congenital ETV6::NTRK3 (+) IFS of the head and neck region without rapid response to chemotherapy who was treated with larotrectinib oral suspension.
Larotrectinib was well tolerated and induced an impressive clinical and radiologic response.
This case illustrates an example of pediatric precision oncology in a neonate with an ETV6::NTRK3 (+) congenital IFS of the head and neck region and provides further reference for the use of larotrectinib in the neonatal period.
婴儿纤维肉瘤（IFS）是一种罕见的儿童肿瘤，恶性程度中等，局部侵袭性高，通常发生于婴幼儿。其在头颈部区域的发生较为罕见。完整的非致残性手术切除往往无法实现，需要多模式治疗。IFS常伴有神经营养性受体酪氨酸激酶（NTRK）融合。使用NTRK抑制剂进行靶向治疗正在改变IFS的治疗模式。
在此，我们报告一例患有巨大不可切除的先天性头颈部ETV6::NTRK3（+）IFS的新生儿病例，该患儿对化疗无快速反应，接受了拉罗替尼口服混悬液治疗。
拉罗替尼耐受性良好，并诱导出令人印象深刻的临床和影像学反应。
本病例说明了在一名患有头颈部ETV6::NTRK3（+）先天性IFS的新生儿中进行儿童精准肿瘤学治疗的一个实例，并为新生儿期使用拉罗替尼提供了进一步的参考。
