Bracko M, Cindro L, Golouh R
Department of Pathology, Institute of Oncology, Ljubljana, Slovenia.
Cancer. 1992 Mar 1;69(5):1294-9. doi: 10.1002/cncr.2820690537.
Two brothers with multicentric infantile myofibromatosis (IM) are reported. In both, tumors were present at birth; the tumors regressed spontaneously, but new lesions developed throughout the follow-up periods of 15 and 8 years. Immunohistochemically, the nodules were found to be positive for vimentin and actin, but negative for desmin and S-100 protein; these findings support the myofibroblastic nature of IM. A literature review revealed nine additional families with IM in more than one family member. Although the occurrence of IM in eight sets of siblings, with consanguinity in two of them, favors an autosomal recessive mode of inheritance, the disorder also has been well documented in half-sisters and in successive generations, which makes autosomal dominant inheritance a more plausible explanation.
报告了两例患有多中心婴儿肌纤维瘤病（IM）的兄弟。两人出生时均有肿瘤；肿瘤自发消退，但在15年和8年的随访期间出现了新的病变。免疫组织化学检查发现，结节波形蛋白和肌动蛋白呈阳性，但结蛋白和S-100蛋白呈阴性；这些发现支持IM的肌成纤维细胞性质。文献综述显示，另有9个家庭有不止一名家庭成员患有IM。尽管在8对兄弟姐妹中出现了IM，其中2对有血缘关系，这支持常染色体隐性遗传模式，但该疾病在同父异母姐妹和连续几代人中也有充分记录，这使得常染色体显性遗传成为更合理的解释。
