Skip to main content
. Author manuscript; available in PMC: 2018 Nov 28.
Published in final edited form as: Clin Cancer Res. 2018 Jan 17;24(10):2251–2261. doi: 10.1158/1078-0432.CCR-17-3089

Table 1.

Indications for DICER1 testing. Consider germline DICER1 genetic testing in an individual with one major or two minor indications.

  Major:   Minor:
−Individuals with PPB (all types) −Lung cyst(s) in adults
−Lung cyst(s) in childhood, especially if multi−septated, multiple or bilateral −Renal cyst(s)*
−Thoracic embryonal rhabdomyosarcoma* −Wilms tumor
−Cystic nephroma −Multinodular goiter or differentiated thyroid cancer
−Genitourinary sarcomas including undifferentiated sarcoma* −Embryonal rhabdomyosarcoma other than thoracic or gynecologic*
−Ovarian Sertoli−Leydig cell tumor
−Gynandroblastoma −Poorly differentiated neuroendocrine tumor
−Uterine cervical or ovarian embryonal rhabdomyosarcoma*
−Genitourinary/gynecologic neuroendocrine tumors −Undifferentiated sarcoma*
−Macrocephaly*
− Multinodular goiter or thyroid cancer in 2 or more 1st degree relatives or in an index patient with a family history consistent with DICER1 syndrome* −Consider testing for any childhood cancer in constellation with any other minor criteria
−Childhood onset multinodular goiter* or differentiated thyroid cancer*
−Ciliary body medulloepithelioma
−Nasal chondromesenchymal hamartoma
−Pineoblastoma
−Pituitary blastoma
*

Multinodular goiter, differentiated thyroid cancer (papillary or follicular carcinomas), sarcomas, Wilms tumor, neuroendocrine tumors, renal cysts and macrocephaly may also be associated with other genetic predisposition syndromes. Consider testing for additional hereditary cancer predispositions and/or next generation sequencing panel that includes deletion/duplication of DICER1 and/or other genes indicated by clinical and family history