科研速览 · Science Skim继续刷下去 · Keep skimming →
◆ Frontiers in pediatrics2026-01-01

Case Report: Synchronous ALK-positive laryngeal inflammatory myofibroblastic tumor and EGFR-mutant lung adenocarcinoma in a child.

Guodun Zheng, Dengke Luo, Taozhen He, Miao Yuan, Gang Yang, Shiyi Dai, Chang Xu

原始摘要(英文原文)· Original abstract
The concurrent occurrence of two histogenetically distinct tumors in a child is exceptionally uncommon and may create substantial diagnostic uncertainty. To the best of our knowledge, this is the first reported case of synchronous diagnosis of an ALK-rearranged inflammatory myofibroblastic tumor (IMT) of the larynx and EGFR-mutant lung adenocarcinoma. A 7-year-old boy presented with dyspnea and hoarseness. A laryngeal mass was resected and confirmed to be ALK-positive IMT harboring a THBS1-ALK rearrangement. PET-CT also detected a solitary lung nodule in the right lower lobe, which was initially considered possible metastatic IMT. However, serial chest CT over 22 months demonstrated only minimal, indolent enlargement, a pattern that was inconsistent with the expected behavior of metastatic disease. Because of this clinicoradiologic discrepancy, thoracoscopic wedge resection was performed for definitive diagnosis. Histopathology revealed acinar-predominant invasive adenocarcinoma of the lung that was positive for TTF-1, and Napsin A, and negative for ALK. Next-generation sequencing identified an EGFR exon 20 insertion (p.N771_P772insG) and a low tumor mutational burden. The discordant clinical behavior, isolated and indolent radiologic evolution, divergent histopathologic and immunophenotypic profiles, and distinct oncogenic drivers collectively supported a diagnosis of synchronous primary tumors rather than metastatic IMT. Because sequencing was limited to the DICER1 hotspot region, other hereditary cancer-predisposition mechanisms could not be definitively excluded. This case underscores the importance of longitudinal imaging, integrated pathology, and molecular profiling when presumed metastatic disease follows an atypical course pediatric oncology.
读原文 · Read the paper ↗

AI 追问PRO

登录后使用 AI 追问

讨论区

登录后参与讨论

相关论文 · Related

Case Report: Synchronous ALK-positive laryngeal inflammatory myofibroblastic tumor and EGFR-mutant lung adenocarcinoma in a child. — 科研速览 Science Skim