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Hum Pathol. 2012 Feb;43(2):299-302. doi: 10.1016/j.humpath.2011.03.010. Epub 2011 Jul 30.

Ectomesenchymoma with t(1;12)(p32;p13) evolving from embryonal rhabdomyosarcoma shows no rearrangement of ETV6.

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  • 1National Children's Research Centre, Our Lady's Children's Hospital, Crumlin, Dublin 12, Ireland.


Ectomesenchymoma is a rare mesenchymal malignancy occurring mainly in the pediatric population. The hallmark diagnostic features are a combination of sarcoma, usually rhabdomyosarcoma (RMS) with admixed ganglion cells. The lesion arises either in soft tissues or the cranial cavity, and outcomes vary considerably. Current knowledge about the genetics and biology of ectomesenchymoma is extremely limited with only 4 published karyotypes, showing overlaps only in trisomies 2, 8, and 11. Here, we describe a case with genetic findings that, in conjunction with preexisting observations, offer some additional insights into the genetic aberrations of ectomesenchymoma.

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