STK11 Mutation Identified in Thyroid Carcinoma.
Publication/Presentation Date
3-1-2016
Abstract
Peutz-Jeghers syndrome (PJS) is an autosomal-dominant disorder, in which germline mutation of serine threonine-protein kinase 11 (STK11) is identified in up to 90 % of the patients who meet clinical criteria for PJS. Hematoxylin and eosin (H&E) slides of the tumor were reviewed to confirm areas with at least 25 % of tumor cellularity. Then, the designated area was extracted for genomic DNA. Targeted next-generation sequencing analysis was performed using a 47-gene panel. Case 1 is a 71-year-old man with high grade follicular thyroid carcinoma with clear cell and oncocytic features. The carcinoma showed a missense mutation in TP53 (p.R342G, c.1024C > G) and a 16-nucleotide intronic deletion started next to the 3' of exon 6 (involving the canonical +1 and +2 bases of the splice donor site) in STK11 (p.?, c.862 + 1_862 + 16delGTGGGAGCCTCATCCC). Case 2 is a 76-year-old woman with tall cell variant papillary thyroid carcinoma. The carcinoma demonstrated a missense mutation in BRAF (p.V600E, c.1799T > A) and a missense mutation in STK11 (p.F354L, c.1062C > G). In summary, we present two elderly patients with thyroid carcinoma harboring STK11 mutation without clinical manifestation of PJS. The findings suggest that STK11 may play a role in thyroid carcinoma development.
Volume
27
Issue
1
First Page
65
Last Page
69
ISSN
1559-0097
Published In/Presented At
Wei, S., LiVolsi, V. A., Brose, M. S., Montone, K. T., Morrissette, J. J., & Baloch, Z. W. (2016). STK11 Mutation Identified in Thyroid Carcinoma. Endocrine pathology, 27(1), 65–69. https://doi.org/10.1007/s12022-015-9411-6
Disciplines
Medicine and Health Sciences
PubMedID
26662608
Department(s)
Hematology-Medical Oncology Division
Document Type
Article