腹肌瘤（DT），也称为腹肌型纤维肉瘤（DTF）或侵袭性纤维肉瘤（AF），是一种罕见的影响儿童和成人的间质瘤。它不会转移，但具有浸润性生长，高复发率甚至可能导致严重健康问题。本研究通过多组学综合研究调查了腹肌瘤的生物学。我们系统地调查了我们儿科机构98个腹外病例的临床数据，并确定了一些关键的临床预后因素。此外，我们在配对的PDT肿瘤/匹配正常组织中进行的多组学综合研究（全外显子测序、RNA测序和非靶向代谢组学分析）确定了更多新突变、潜在预后标志物和PDT的治疗靶点。观察到CTNNB1（p.T41A和p.S45F）和MUC4（p.T3775T、p.S3450S等）等顶级突变基因在40%以上的PDT患者中突变。我们还确定了一组FDA批准的药物靶点或Wnt/β-连环蛋白信号通路相关基因。综合分析确定了可能对PDT的潜在治疗至关重要的途径和关键基因/代谢物。我们还成功建立了六条原发性PDT细胞系，供未来研究使用。这些研究可能促进对PDT的新药物和治疗策略的开发。©2022。作者们。

Desmoid tumor (DT), also known as desmoid-type fibromatosis (DTF) or aggressive fibromatosis (AF) is a rare mesenchymal tumor affecting both children and adults. It is non-metastasis but infiltrative, growing with a high recurrence rate to even cause serious health problems. This study investigates the biology of desmoid tumors through integrated multi-omics studies.We systematically investigated the clinical data of 98 extra-abdominal cases in our pediatric institute and identified some critical clinical prognostic factors. Moreover, our integrated multi-omics studies (Whole Exome Sequencing, RNA sequencing, and untargeted metabolomics profiling) in the paired PDT tumor/matched normal tissues identified more novel mutations, and potential prognostic markers and therapeutic targets for PDTs.The top mutation genes, such as CTNNB1 (p.T41A and p.S45F) and MUC4 (p.T3775T, p.S3450S, etc.), were observed with a mutation in more than 40% of PDT patients. We also identified a panel of genes that are classed as the FDA-approved drug targets or Wnt/β-catenin signaling pathway-related genes. The integrated analysis identified pathways and key genes/metabolites that may be important for developing potential treatment of PDTs. We also successfully established six primary PDT cell lines for future studies.These studies may promote the development of novel drugs and therapeutic strategies for PDTs.© 2022. The Author(s).