TY - JOUR
T1 - Primary Thyroid Neoplasm with Fetal Morphology Associated with DICER1 Mutations
T2 - Expanding the Diagnostic Profile of Thyroblastoma
AU - Guilmette, Julie
AU - Dias-Santagata, Dora
AU - Lennerz, Jochen
AU - Selig, Martin
AU - Sadow, Peter M.
AU - Hill, Dana Ashley
AU - Nosé, Vania
N1 - Publisher Copyright:
© 2022 Mary Ann Liebert, Inc., publishers.
PY - 2022/11
Y1 - 2022/11
N2 - Introduction: Thyroblastoma, a primary thyroid neoplasm with histological features of primitive thyroid tissue has recently been described and is included as a distinct entity in the most recent edition of the World Health Organization (WHO) Classification of Tumors (5th edition). In this study, we expand the clinical, morphological, and molecular profile of this aggressive neoplasm. Patient Findings: The patients are females, 19 and 45 years of age, referred for large thyroid nodules. Tumor morphology is biphasic, composed of nests and follicles of epithelial cells, some with colloid-like secretions reminiscent of fetal thyroid follicles intertwined with a primitive stromal spindle cell component. By immunohistochemistry, the epithelial component is diffusely positive for PAX8 and TTF1 markers. Molecular studies showed DICER1 aberrations. Conclusion: A primary primitive thyroid malignancy reminiscent of early fetal embryology with no teratoid element, recently reported as thyroblastoma represents a unique entity, novel in its description, and is likely underdiagnosed.
AB - Introduction: Thyroblastoma, a primary thyroid neoplasm with histological features of primitive thyroid tissue has recently been described and is included as a distinct entity in the most recent edition of the World Health Organization (WHO) Classification of Tumors (5th edition). In this study, we expand the clinical, morphological, and molecular profile of this aggressive neoplasm. Patient Findings: The patients are females, 19 and 45 years of age, referred for large thyroid nodules. Tumor morphology is biphasic, composed of nests and follicles of epithelial cells, some with colloid-like secretions reminiscent of fetal thyroid follicles intertwined with a primitive stromal spindle cell component. By immunohistochemistry, the epithelial component is diffusely positive for PAX8 and TTF1 markers. Molecular studies showed DICER1 aberrations. Conclusion: A primary primitive thyroid malignancy reminiscent of early fetal embryology with no teratoid element, recently reported as thyroblastoma represents a unique entity, novel in its description, and is likely underdiagnosed.
KW - DICER1
KW - embryonal
KW - neoplasm
KW - primary
KW - thyroblastoma
KW - thyroid
UR - http://www.scopus.com/inward/record.url?scp=85140035163&partnerID=8YFLogxK
U2 - 10.1089/thy.2022.0060
DO - 10.1089/thy.2022.0060
M3 - Article
C2 - 36178347
AN - SCOPUS:85140035163
SN - 1050-7256
VL - 32
SP - 1423
EP - 1428
JO - Thyroid
JF - Thyroid
IS - 11
ER -