STK11 Mutation Identified in Thyroid Carcinoma

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...

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Published in:Endocrine pathology 2016-03, Vol.27 (1), p.65-69
Main Authors: Wei, Shuanzeng, LiVolsi, Virginia A., Brose, Marcia S., Montone, Kathleen T., Morrissette, Jennifer J. D., Baloch, Zubair W.
Format: Article
Language:English
Subjects:
Adenocarcinoma, Follicular - genetics
Aged
Biomarkers, Tumor - analysis
Carcinoma - genetics
Carcinoma, Papillary
Endocrinology
Female
Humans
Immunohistochemistry
Male
Medicine
Medicine & Public Health
Mutation, Missense
Oligonucleotide Array Sequence Analysis
Oncology
Pathology
Protein-Serine-Threonine Kinases - genetics
Thyroid Cancer, Papillary
Thyroid Neoplasms - genetics
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Summary: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.
ISSN:1046-3976
1559-0097
DOI:10.1007/s12022-015-9411-6