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Cervical Minimal Deviation Adenocarcinoma in Peutz-Jeghers Syndrome

      A middle-aged woman with a history of gastrointestinal polyps presented with abnormal uterine bleeding and an enlarged, barrel-shaped cervix. The patient underwent hysterectomy and salpingo-oophorectomy, which revealed minimal deviation adenocarcinoma of the cervix.
      Which disorder is most likely in this patient?
      • a.
        Cowden syndrome
      • b.
        Li-Fraumeni syndrome
      • c.
        von Hippel-Lindau disease
      • d.
        Peutz-Jeghers syndrome (PJS)
      Answer: d. Peutz-Jeghers syndrome
      Figure thumbnail gr2
      A, Low-power photomicrograph of the cervical mass showing a florid proliferation of endocervical glands. B, High-power photomicrograph showing mucinous glands with and without cytologic atypia. C, Intermediate-power photomicrograph of a sex cord tumor with annular tubules. This tumor was an incidental finding in both ovaries.
      Peutz-Jeghers syndrome is an autosomal dominant disorder usually involving mutation in the STK11 gene. Affected patients classically have hyperpigmentation of the oral cavity and distal upper and lower extremities and hamartomatous gastrointestinal polyps. Patients with PJS have an increased risk for various cancers, particularly gastrointestinal and pancreaticobiliary adenocarcinoma. Gynecologic neoplasms that can be seen in PJS include cervical minimal deviation adenocarcinoma (adenoma malignum) and ovarian sex cord tumor with annular tubules, which is often small or microscopic, calcified, and hyperestrogenic.
      • Mikami Y.
      • McCluggage W.G.
      Endocervical glandular lesions exhibiting gastric differentiation: an emerging spectrum of benign, premalignant, and malignant lesions.
      Recognizing that these lesions can be associated with PJS is helpful in identifying patients for further clinical and genetic evaluation.

      Reference

        • Mikami Y.
        • McCluggage W.G.
        Endocervical glandular lesions exhibiting gastric differentiation: an emerging spectrum of benign, premalignant, and malignant lesions.
        Adv Anat Pathol. 2013; 20: 227-237