Alba-Pavón Piedad, Astigarraga Itziar, Alaña Lide, Llano-Rivas Isabel, Gener Blanca, Mosteiro Lorena, López-Almaraz Ricardo, Echebarria-Barona Aizpea, Villate Olatz
Pediatric Oncology Group, Biobizkaia Health Research Institute, Barakaldo, Spain.
Pediatrics Department, Hospital Universitario Cruces, Osakidetza, Barakaldo, Spain.
Transl Pediatr. 2023 Sep 18;12(9):1715-1724. doi: 10.21037/tp-23-60. Epub 2023 Sep 6.
Desmoid tumor (DT) is a fibroblastic proliferation arising in soft tissue characterized by localized infiltrative growth with an inability to metastasize but with a tendency to recurrence. Nuchal-type fibromas are benign soft tissue lesions that are usually developed in the posterior neck. The development of these neoplasms can be associated with a hereditary cancer predisposition syndrome, mainly familial adenomatous polyposis (FAP) syndrome caused by germline mutations. Gardner syndrome is a variant of FAP characterized by the presence of extracolonic manifestations including soft tissue tumors as DTs and nuchal-type fibromas. However, the development of these tumors could be associated with germline alterations in other genes related to colorectal cancer development. The objective of this study was to analyze germline variants in and genes in five pediatric patients diagnosed with DTs or nuchal-type fibromas. We identified two pathogenic variants in the gene in two different patients diagnosed with nuchal-type fibroma and DTs and two variants of uncertain significance in in two patients diagnosed with nuchal-type fibroma. Two patients had family history of colorectal cancer, however, only one of them showed an germline pathogenic variant. The analysis of germline variants and genetic counseling is essential for pediatric patients diagnosed with DTs or nuchal-type fibromas and their relatives.
硬纤维瘤（DT）是一种起源于软组织的成纤维细胞增殖性疾病，其特征为局限性浸润性生长，不发生转移，但有复发倾向。项部纤维瘤是一种良性软组织病变，通常发生于后颈部。这些肿瘤的发生可能与遗传性癌症易感性综合征有关，主要是由种系突变引起的家族性腺瘤性息肉病（FAP）综合征。加德纳综合征是FAP的一种变体，其特征是存在包括硬纤维瘤和项部纤维瘤等软组织肿瘤在内的结肠外表现。然而，这些肿瘤的发生可能与其他与结直肠癌发生相关的基因的种系改变有关。本研究的目的是分析5例诊断为硬纤维瘤或项部纤维瘤的儿科患者中 和 基因的种系变异。我们在2例分别诊断为项部纤维瘤和硬纤维瘤的不同患者中鉴定出 基因的2个致病变异，在2例诊断为项部纤维瘤的患者中鉴定出 基因的2个意义未明的变异。2例患者有结直肠癌家族史，然而，其中只有1例显示 种系致病变异。对诊断为硬纤维瘤或项部纤维瘤的儿科患者及其亲属进行种系变异分析和遗传咨询至关重要。
