title: Peutz-Jeghers Syndrome: Pathobiology, Pathologic Manifestations, and Suggestions for Recommending Genetic Testing in Pathology Reports.
abstract: Peutz-Jeghers syndrome (PJS), in most cases, is attributed to mutation in STK11/LKB1 and is clinically characterized by gastrointestinal hamartomatous polyposis, mucocutaneous pigmentation, and predisposition to certain neoplasms. There are currently no recommended gynecologic screening or clinical surveillance guidelines beyond those recommended for the general population; however, cervical cytology samples must be examined with a high level of suspicion for cervical adenocarcinoma. It is considered prudent to note the established association with PJS and recommend referral for genetic counseling. Complete surgical excision after a diagnosis of atypical lobular endocervical glandular hyperplasia is recommended.
authors.affiliation: Division of Women's and Perinatal Pathology, Department of Pathology, Brigham and Women's Hospital, 75 Francis Street, Boston, MA 02115, USA.
authors.forename: Emily E K
authors.initials: EE
authors.lastname: Meserve
authors.affiliation: Division of Women's and Perinatal Pathology, Department of Pathology, Brigham and Women's Hospital, 75 Francis Street, Boston, MA 02115, USA. Electronic address: mnucci@partners.org.
authors.forename: Marisa R
authors.initials: MR
authors.lastname: Nucci
mesh_terms: D000091162:AMP-Activated Protein Kinase Kinases; D002288:Adenocarcinoma, Mucinous / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D014408:Biomarkers, Tumor / Q000378:metabolism; D003937:Diagnosis, Differential; D005260:Female; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing / Q000379:methods*; D005833:Genital Neoplasms, Female / Q000175:diagnosis / Q000235:genetics / Q000473:pathology*; D006801:Humans; D009154:Mutation; D009363:Neoplasm Proteins / Q000235:genetics; D010051:Ovarian Neoplasms / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D010580:Peutz-Jeghers Syndrome / Q000175:diagnosis / Q000235:genetics / Q000473:pathology*; D017346:Protein Serine-Threonine Kinases / Q000235:genetics; D018312:Sex Cord-Gonadal Stromal Tumors / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D002583:Uterine Cervical Neoplasms / Q000175:diagnosis / Q000235:genetics / Q000473:pathology
chemical_list: D014408:Biomarkers, Tumor; D009363:Neoplasm Proteins; D017346:Protein Serine-Threonine Kinases; C109790:STK11 protein, human; D000091162:AMP-Activated Protein Kinase Kinases
keywords: Adenoma malignum; Gastric-type endocervical adenocarcinoma; Minimal deviation adenocarcinoma; STK11/LKB1; Sertoli cell tumor; Sex cord tumor with annular tubules; Tumor suppressor