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.
Keywords:
Adenoma malignum; Gastric-type endocervical adenocarcinoma; Minimal deviation adenocarcinoma; STK11/LKB1; Sertoli cell tumor; Sex cord tumor with annular tubules; Tumor suppressor.
Copyright © 2016 Elsevier Inc. All rights reserved.
MeSH terms
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AMP-Activated Protein Kinase Kinases
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Adenocarcinoma, Mucinous / diagnosis
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Adenocarcinoma, Mucinous / genetics
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Adenocarcinoma, Mucinous / pathology
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Biomarkers, Tumor / metabolism
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Diagnosis, Differential
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Female
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Genetic Predisposition to Disease
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Genetic Testing / methods*
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Genital Neoplasms, Female / diagnosis
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Genital Neoplasms, Female / genetics
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Genital Neoplasms, Female / pathology*
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Humans
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Mutation
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Neoplasm Proteins / genetics
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Ovarian Neoplasms / diagnosis
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Ovarian Neoplasms / genetics
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Ovarian Neoplasms / pathology
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Peutz-Jeghers Syndrome / diagnosis
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Peutz-Jeghers Syndrome / genetics
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Peutz-Jeghers Syndrome / pathology*
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Protein Serine-Threonine Kinases / genetics
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Sex Cord-Gonadal Stromal Tumors / diagnosis
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Sex Cord-Gonadal Stromal Tumors / genetics
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Sex Cord-Gonadal Stromal Tumors / pathology
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Uterine Cervical Neoplasms / diagnosis
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Uterine Cervical Neoplasms / genetics
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Uterine Cervical Neoplasms / pathology
Substances
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Biomarkers, Tumor
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Neoplasm Proteins
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Protein Serine-Threonine Kinases
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STK11 protein, human
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AMP-Activated Protein Kinase Kinases