Römer Tristan, Wagner Norbert, Braunschweig Till, Meyer Robert, Elbracht Miriam, Kontny Udo, Moser Olga
Division of Pediatric Hematology, Oncology and Stem Cell Transplantation, Medical Faculty, RWTH Aachen University, Pauwelstrasse 30, 52074, Aachen, Germany.
Institute of Pathology, RWTH Aachen University, Aachen, Germany.
Mol Cell Pediatr. 2021 Jun 16;8(1):7. doi: 10.1186/s40348-021-00117-9.
Infantile myofibromatosis (IM) is the most common cause of multiple fibrous tumors in infancy. Multicentric disease can be associated with life-threatening visceral lesions. Germline gain-of-function mutations in PDGFRB have been identified as the most common molecular defect in familial IM.
We here describe an infant with PDGFRB-driven IM with multiple tumors at different sites, including intestinal polyposis with hematochezia, necessitating temporary chemotherapy.
PDGFRB-driven IM is clinically challenging due to its fluctuating course and multiple organ involvement in the first years of life. Early molecular genetic analysis is necessary to consider tyrosine kinase inhibitor treatment in case of aggressive visceral lesions.
婴儿肌纤维瘤病（IM）是婴儿期多发性纤维瘤最常见的病因。多中心疾病可伴有危及生命的内脏病变。PDGFRB基因功能获得性种系突变已被确定为家族性IM最常见的分子缺陷。
我们在此描述一名由PDGFRB驱动的IM婴儿，其在不同部位有多个肿瘤，包括伴有便血的肠道息肉病，需要进行临时化疗。
由PDGFRB驱动的IM在临床上具有挑战性，因为其病程波动且在生命的最初几年累及多个器官。对于侵袭性内脏病变，早期进行分子遗传学分析对于考虑使用酪氨酸激酶抑制剂治疗是必要的。
