J Gynecol Oncol.  2013 Jan;24(1):92-95. 10.3802/jgo.2013.24.1.92.

Minimal deviation adenocarcinoma of the cervix and tumorlets of sex-cord stromal tumor with annular tubules of the ovary in Peutz-Jeghers syndrome

• Kwon SY
• Choe MS
• Lee HW
• Lee HJ
• Shin SJ
• Cho CH

• KMID: 2288565
• DOI: http://doi.org/10.3802/jgo.2013.24.1.92

Abstract

We report 2 cases of minimal deviation adenocarcinoma of the cervix and tumorlets of sex cord tumor with annular tubules (SCTATs) of the ovaries, accompanied by Peutz-Jeghers syndrome. Case 1 is a 36-year-old woman and case 2 is a 35-year-old woman. Grossly, the cervix of both cases showed markedly barrel shaped enlargement with an infiltrating tumor. Microscopically, well-differentiated atypical glands were infiltrating into the entire thickness of the cervix. The ovarian masses in case 1 were diagnosed as metastatic carcinoma in mucinous cystadenoma with tumorlets of SCTATs of the ovaries. Multiple scattered tumorlets of SCTATs were also found in the ovary of case 2. By direct DNA sequencing analysis, a frame shift mutation of the STK11/LKB1 gene was identified in case 1. Case 1 represented the more aggressive clinical course, and although the patient received additional combined chemo-radiation therapy, she expired 1 year later. In general, mutation of the STK11/LKB1 gene is associated with poor clinical outcome in malignant tumors accompanied by Peutz-Jeghers syndrome.

Keyword

Cervix; Minimal deviation adenocarcinoma; Mutation; Peutz-Jeghers syndrome; STK11/LKB1

MeSH Terms

Adenocarcinoma
Cervix Uteri
Cystadenoma, Mucinous
Female
Frameshift Mutation
Humans
Ovary
Peutz-Jeghers Syndrome
Sequence Analysis, DNA

Figure

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  Fig. 1 Case 1. (A) Magnetic resonance imaging of the uterus showing barrel shaped cervix. (B) Gross feature of the uterus showing bulging cervix. (C) Microscopic finding of the cervix showing infiltrative endocervical glands (H&E, ×200). (D) Microscopic finding of ovary with tumorlets of sex cord stromal tumors with annular tubules (H&E, ×100). (E) Microscopic finding of a hamartomatous polyp from the colon (H&E, ×100). (F) Negative staining of LKB1 was noted at the tumor cells (×200).

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  Fig. 2 DNA sequencing analysis reveals a frame shift mutation of codon 132 (TGC to CGC) in exon 3 of the STK11/LKB1 gene in case 1.

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  Fig. 3 Case 2. (A) Magnetic resonance imaging of the uterus showing enlarged cervix. (B) Gross feature of the uterus showing an ill-defined tumor mass involving the whole cervix. (C) Microscopic finding of the cervix demonstrating infiltrative atypical endocervical glands (H&E, ×200). (D) Microscopic finding of tumorlets of sex cord stromal tumors with annular tubules in the ovary (H&E, ×200). (E) Microscopic finding of a hamartomatous colonic polyp (H&E, ×100). (F) Positive nuclear staining of LKB1 was identified at the tumor cells (×200).

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