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A new interesting article has been published in Mod Pathol. 2019 Dec; 32(12):1744-1750. doi: 10.1038/s41379-019-0319-4. Epub 2019 Jul 11. and titled:

Presacral malignant teratoid neoplasm in association with pathogenic DICER1 variation.

Authors of this article are:

Nakano Y, Hasegawa D, Stewart DR, Schultz KAP, Harris AK, Hirato J, Uemura S, Tamura A, Saito A, Kawamura A, Yoshida M, Yamasaki K0, Yamashita S, Ushijima T, Kosaka Y, Ichimura K0, Dehner LP, Hill DA.

A summary of the article is shown below:

We report two malignant sacrococcygeal tumors in infants that were associated with pathogenic DICER1 variation. These tumors were composed of primitive neuroepithelium, embryonal rhabdomyosarcoma, and cartilage and initially diagnosed as immature teratomas. One child developed intracranial metastasis and died. The second child underwent surgery and chemotherapy and achieved complete remission. This child subsequently developed five additional DICER1-associated neoplasms by age nine. Genetic analysis revealed that both tumors harbored biallelic pathogenic DICER1 variation. We believe these cases represent another novel subtype of DICER1-associated tumor. This new entity, which we propose to call DICER1-associated presacral malignant teratoid neoplasm, may be difficult initially to distinguish from immature teratoma, but recognizing it as an entity can prompt appropriate classification as an aggressive malignancy and facilitate appropriate genetic counseling, DICER1 germline variant testing, screening, and education.

Check out the article’s website on Pubmed for more information:

[link-preview url=https://www.ncbi.nlm.nih.gov/pubmed/31296931 forceshot=true]

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