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Abstract：
BACKGROUND: 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.
METHODS: We here describe an infant with PDGFRB-driven IM with multiple tumors at different sites, including intestinal polyposis with hematochezia, necessitating temporary chemotherapy.
CONCLUSIONS: 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.
METHODS: We here describe an infant with PDGFRB-driven IM with multiple tumors at different sites, including intestinal polyposis with hematochezia, necessitating temporary chemotherapy.
CONCLUSIONS: 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.
摘要：
背景：婴儿肌纤维瘤病（IM）是婴儿期多发纤维瘤的最常见原因。多中心疾病可能与危及生命的内脏病变有关。PDGFRB中的种系功能获得突变已被鉴定为家族性IM中最常见的分子缺陷。
方法：我们在这里描述了患有PDGFRB驱动的IM的婴儿，在不同部位有多个肿瘤，包括肠息肉伴便血，需要临时化疗。
结论：PDGFRB驱动的IM在临床上具有挑战性，因为其在生命的最初几年中具有波动的病程和多器官受累。在侵袭性内脏病变的情况下，有必要进行早期分子遗传学分析以考虑酪氨酸激酶抑制剂治疗。
方法：我们在这里描述了患有PDGFRB驱动的IM的婴儿，在不同部位有多个肿瘤，包括肠息肉伴便血，需要临时化疗。
结论：PDGFRB驱动的IM在临床上具有挑战性，因为其在生命的最初几年中具有波动的病程和多器官受累。在侵袭性内脏病变的情况下，有必要进行早期分子遗传学分析以考虑酪氨酸激酶抑制剂治疗。
