title: STK11 Mutation Identified in Thyroid Carcinoma.
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.
authors.affiliation: Department of Pathology and Laboratory Medicine, Hospital of the University of Pennsylvania, 3400 Spruce Street, Philadelphia, PA, 19104, USA. weishuanzeng@hotmail.com.
authors.forename: Shuanzeng
authors.initials: S
authors.lastname: Wei
authors.affiliation: Department of Pathology and Laboratory Medicine, Hospital of the University of Pennsylvania, 3400 Spruce Street, Philadelphia, PA, 19104, USA. linus@mail.med.upenn.edu.
authors.forename: Virginia A
authors.initials: VA
authors.lastname: LiVolsi
authors.affiliation: Department of Otorhinolaryngology, Abramson Cancer Center of the University of Pennsylvania, Philadelphia, PA, USA. brosem@mail.med.upenn.edu.
authors.forename: Marcia S
authors.initials: MS
authors.lastname: Brose
authors.affiliation: Department of Pathology and Laboratory Medicine, Hospital of the University of Pennsylvania, 3400 Spruce Street, Philadelphia, PA, 19104, USA. kmontone@mail.med.upenn.edu.
authors.forename: Kathleen T
authors.initials: KT
authors.lastname: Montone
authors.affiliation: Department of Pathology and Laboratory Medicine, Hospital of the University of Pennsylvania, 3400 Spruce Street, Philadelphia, PA, 19104, USA. Jennifer.Morrissette@uphs.upenn.edu.|Department of Pathology and Laboratory Medicine, Hospital of the University of Pennsylvania, 3020 Market Street, Philadelphia, PA, 19104, USA. Jennifer.Morrissette@uphs.upenn.edu.
authors.forename: Jennifer J D
authors.initials: JJ
authors.lastname: Morrissette
authors.affiliation: Department of Pathology and Laboratory Medicine, Hospital of the University of Pennsylvania, 3400 Spruce Street, Philadelphia, PA, 19104, USA. baloch@mail.med.upenn.edu.
authors.forename: Zubair W
authors.initials: ZW
authors.lastname: Baloch
mesh_terms: D000091162:AMP-Activated Protein Kinase Kinases; D018263:Adenocarcinoma, Follicular / Q000235:genetics*; D000368:Aged; D014408:Biomarkers, Tumor / Q000032:analysis; D002277:Carcinoma / Q000235:genetics*; D002291:Carcinoma, Papillary; D005260:Female; D006801:Humans; D007150:Immunohistochemistry; D008297:Male; D020125:Mutation, Missense; D020411:Oligonucleotide Array Sequence Analysis; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D000077273:Thyroid Cancer, Papillary; D013964:Thyroid Neoplasms / Q000235:genetics*
chemical_list: D014408:Biomarkers, Tumor; D017346:Protein Serine-Threonine Kinases; C109790:STK11 protein, human; D000091162:AMP-Activated Protein Kinase Kinases
keywords: Carcinoma; LKB1; Mutation; STK11; Thyroid