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STK11 Mutation Identified in Thyroid Carcinoma

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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.

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Authors and Affiliations

  1. Department of Pathology and Laboratory Medicine, Hospital of the University of Pennsylvania, 3400 Spruce Street, Philadelphia, PA, 19104, USA

    Shuanzeng Wei, Virginia A. LiVolsi, Kathleen T. Montone, Jennifer J. D. Morrissette & Zubair W. Baloch

  2. Department of Otorhinolaryngology, Abramson Cancer Center of the University of Pennsylvania, Philadelphia, PA, USA

    Marcia S. Brose

  3. Department of Pathology and Laboratory Medicine, Hospital of the University of Pennsylvania, 3020 Market Street, Philadelphia, PA, 19104, USA

    Jennifer J. D. Morrissette

Authors
  1. Shuanzeng Wei
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  2. Virginia A. LiVolsi
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  3. Marcia S. Brose
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  4. Kathleen T. Montone
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  5. Jennifer J. D. Morrissette
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  6. Zubair W. Baloch
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Correspondence to Shuanzeng Wei.

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The authors declare that they have no conflict of interest.

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Wei, S., LiVolsi, V.A., Brose, M.S. et al. STK11 Mutation Identified in Thyroid Carcinoma. Endocr Pathol 27, 65–69 (2016). https://doi.org/10.1007/s12022-015-9411-6

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  • DOI: https://doi.org/10.1007/s12022-015-9411-6

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