鼻窦：伴有MYOD1基因突变的硬化性/梭形细胞横纹肌肉瘤 讨论病例【91360.软组织662】

刘伟

一公里生命
病例(形态)分享第430例
patient (early 20s) with a rapidly growing sinonasal mass. What is DD? Immunos?



神奇的东方树叶
上皮样炎性肌纤维母细胞肉瘤发生在鼻道很少见


伊人一方
更倾向尤文类


周泉
EWSR1-TFCP2？


神奇的东方树叶
硬化性横纹肌肉瘤、上皮样型？腺泡型？胚胎性？混合型


周泉
上皮样型


一公里生命
Ck neg, PS100 neg, CD99 neg.
Sclerosing/Spindle cell rhabdomyosarcoma with a mutation in exon 1 of MYOD1 gene
Currently, the family of spindle cell RMS is subclassified based on their genomic aberrations.
grossly, we have aggressive variants with MYOD1 mutations (PMID: 30181563) and TFCP2 rearrangements (PMID 31383960) and variants with NCOA2 or VGLL2 with a good prognosis (PMID26501226). Classificatiom continues to evolve though...
An important point to keep in mind is the differential expression of MYOD1 (Clone EP212) and Myogenin. The former is generally expressed more diffusely than the latter in spindle cell/slecrosing RMS. Older clones of MYOD1 lacked specificity but this has been improved.
Sorry, just to avoid misunderstanding. Myogenin is still more specific than MYOD1 and should never be asked alone for confirming rhabdomyoblastic differentiation. However, both markers give more info than one in a similar way as PS100 and SOX10 in other group of tumors.
注：病例来自网络，版权归原作者仅供学习

wy1992

谢谢分享！