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Aggressive infantile myofibromatosis with intestinal involvement
Molecular and Cellular Pediatrics Pub Date : 2021-06-16 , DOI: 10.1186/s40348-021-00117-9
Tristan Römer 1 , Norbert Wagner 1 , Till Braunschweig 2 , Robert Meyer 3 , Miriam Elbracht 3 , Udo Kontny 1 , Olga Moser 1
Affiliation  

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.

中文翻译:

累及肠道的侵袭性婴儿肌纤维瘤病

婴儿肌纤维瘤病 (IM) 是婴儿期多发性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 中的种系功能获得性突变已被确定为家族性 IM 中最常见的分子缺陷。我们在这里描述了一个患有 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。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内受累多器官。在侵袭性内脏病变的情况下,需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。
更新日期:2021-06-17
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