Aggressive infantile myofibromatosis with intestinal involvement.

IF 2.4 Q1 PEDIATRICS Molecular and cellular pediatrics Pub Date : 2021-06-16 DOI:10.1186/s40348-021-00117-9
Tristan Römer, Norbert Wagner, Till Braunschweig, Robert Meyer, Miriam Elbracht, Udo Kontny, Olga Moser
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引用次数: 2

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.

Case presentation: 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.

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侵袭性婴儿肌纤维瘤病伴肠道受累。
背景:婴儿肌纤维瘤病(IM)是婴儿多发纤维性肿瘤最常见的病因。多中心疾病可伴有危及生命的内脏病变。PDGFRB的生殖系功能获得突变已被确定为家族性IM中最常见的分子缺陷。病例介绍:我们在这里描述了一个患有pdgfrb驱动的IM的婴儿,在不同的部位有多个肿瘤,包括肠息肉病伴便血,需要临时化疗。结论:pdgfrb驱动的IM在临床上具有挑战性,因为它的波动过程和多器官累及在生命的第一年。早期分子遗传学分析是必要的,以考虑酪氨酸激酶抑制剂治疗的情况下侵袭性内脏病变。
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