Table of Contents

HK J Paediatr (New Series)
Vol 29. No. 4, 2024

HK J Paediatr (New Series) 2024;29:250-253

Case Report

Ovarian Sex Cord Tumours with Annular Tubules in a Child with Peutz-Jeghers Syndrome: A Case Report and Literature Review

W Chen, L Fu, T Zhang, L Liu


Abstract

Introduction: Ovarian sex cord tumours with annular tubules (SCTAT) is extremely rare in children with Peutz-Jeghers syndrome (PJS). We reported a case of ovarian SCTAT in a girl with PJS and reviewed the literature. Case presentation: A 13-year-old girl PJS was admitted for menorrhagia during the last 1.5 years, accompanied by intermittent abdominal pain and a 2-day history of pallor. Ultrasound and computerised tomography showed bilateral ovarian tumours. Surgical resection was performed, and the patient was diagnosed as bilateral ovarian SCTAT. The patient had an uneventful follow-up. Conclusion: Fertility-sparing tumour resection is feasible for ovarian SCTAT in children with PJS. Long-term follow-up is mandatory for the postoperative patients.

Keyword : Child; Peutz-Jeghers syndrome; Sex cord tumours with annular tubules; Surgery


Introduction

Peutz-Jeghers syndrome (PJS) is a rare autosomal dominant disease characterised by mucocutaneous pigmentation, gastrointestinal hamartomatous polyps, and an increased risk for gastrointestinal and extra-gastrointestinal malignancies.1 It is associated with germline mutations causing loss of function in the tumour suppressor gene STK11/LKB1 on chromosome 19p13.3.2 Sex cord tumour with annular tubules (SCTAT) is a rare condition frequently seen in patients with PJS, as first described by Scully in 1970.3 Here, we describe a case of bilateral ovarian SCTAT in a 13-year-old girl with PJS. We also review the literature to understand the clinical presentations of this condition.

Case Report

A 13-year-old girl was admitted for menorrhagia during the last 1.5 years, accompanied with intermittent abdominal pain and a 2-day history of pallor in October 2019. Her medical history included laparotomy and jejunal polypectomy for intussusception at the age of 11, followed by colonoscopic polypectomy 1 month later. The diagnosis of PJS was established at that time because of circumoral and oral mucous membrane melanin pigmentation and the presence of hamartomatous polyps. She has no family history of gynaecological tumours or PJS.

Full blood count revealed red blood cell (RBC) count of 2.65 × 1012/L (3.50-5.50 × 1012/L) and haemoglobin (Hb) of 56 g/L (110-160 g/L). Ultrasound showed multiple intestinal polyps, an intussusception secondary to a jejunal polyp and bilateral ovarian tumours. Computerised tomography (Figure 1) confirmed the presence of solid ovarian tumours (Left 8.8 cm, Right 3.5 cm).

Figure 1 Bilateral ovarian tumours could be seen clearly in the computerised tomography.

After 2 IU blood transfusion, her RBC count was 3.98 × 1012/L and Hb was 90 g/L. Subsequent ultrasound screening of the thyroid, breast, and urinary systems were negative. Serum levels of carbohydrate antigen 125, neuron-specific enolase, carcinoembryonic antigen, carbohydrate antigen 19-9, alpha-fetoprotein, beta-human chorionic gonadotropin, luteinising hormone, follicle-stimulating hormone, prolactin, testosterone and progesterone were normal. The oestradiol was 254.0 pg/ml (1.6-116.8 pg/ml).

During laparoscopy, bilateral ovarian tumours (Figure 2) and multiple intestinal intussusceptions were confirmed. Frozen biopsy of ovarian tumours diagnosed SCTAT. Then laparotomic intestinal polypectomy and bilateral ovarian tumour resection were performed. Histopathologic studies of the resected ovarian tumours confirmed SCTAT (Figure 3). The postoperative course was uneventful. Menstrual flow returned to normal within two months after surgery, and she remained well during the two-year follow-up period.

Figure 2 Laparoscopic view of bilateral ovarian masses.

Figure 3 Microscopic view of the ovarian mass. Annular tubules composed of proliferating uniform cells having peripherally situated nuclei with central hyalinized bodies (HE × 400).

Discussion

Since Scully's first description of SCTAT in 1970,3 several case series involving both PJS and non-PJS patients have been published. While SCTAT was considered the most common ovarian neoplasm in PJS patients,4 childhood cases remain extremely rare.

We searched PubMed, Medline, OIVD and China National Knowledge Infrastructure databases using the search terms "sex cord-gonadal stromal tumours OR sex cord tumour with annular tubules OR SCTAT and children OR paediatrics and Peutz-Jeghers syndrome" for studies published between 1960 and January 2022. This search yielded 7 articles describing 10 patients summarised in Table 1.3,5-10 The mean age at diagnosis was 13.3±5.0 years (range, 4-18 years). Of these patients, 3 presented with sexual precocity at prepuberty, while 5 presented with menstrual disturbances like menorrhagia, irregular bleeding and amenorrhoea after puberty. These clinical features may be related to the production of oestradiol and progesterone by SCTAT, which has been proved in non-PJS patients.11-14 Accurate diagnosis of SCTAT preoperatively or even intraoperatively remains challenging due to the absence of specific clinical manifestations and laboratory tests.

Table 1 Ovarian sex cord tumours with annular tubules in children with Peutz-Jeghers syndrome
Author Year Age (y/o) Clinical manifestation Laterality Size Treatment Follow-up
Scully3 1970 17 Irregular vaginal bleeding from the menarche Bilateral 1 cm Bilateral OWR 9 years follow-up, had no children for 5 years marriage
Young et al5 1982 23 (17)* Menometrorrhagia then amenorrhoea for 6 months Bilateral L) 3 cm
R) Micro
HE, Right SOE, LE, Left OE (six years
previously because of SCTAT)
Dead 3 years of CAM
4 Sexual precocity, left adnexal mass Right Micro SOE Well 11 years
6 Sexual precocity, left adnexal mass Left Micro SOE Well 18 months
14 Left adnexal mass Bilateral Micro SOE, contralateral OB NA
Bulun et al6 1994 16 Breast development at age 5, menstrual irregularity after age 14 Bilateral NA Surgery (Method NA) NA
Feng et al7 1995 18 Menorrhagia then amenorrhoea for 7 months Left 11 cm SOE, post-surgery chemotherapy Well in 30 months
Swanger and Brudnicki8 2007 11.5 Abnormal vaginal bleeding Bilateral NA NA NA
Chen et al9 2011   Progressive abdominal distention Left 30 cm Surgery (Method NA) NA
Ravishankar et al10 2016 11 Chronic abdominal pain Left 4.5 cm Left OE and Right OB NA
Our study 2022 13 Menorrhagia, abdominal pain and anaemia Bilateral L) 8.8 cm
R) 3.3 cm
Bilateral OTR Well in 6 months
*Age at diagnosis of SCTAT
NA: not available; OWR: ovarian wedge resection; HE: hysterectomy; SOE: salpingo oophorectomy; LE: lymphadenectomy; OE: oophorectomy;
CAM: cervical adenoma malignum; OB: ovarian biopsy; OTR: ovarian tumour resection

Bilateral involvement and small, or microscopic size are characteristic features of ovarian SCTAT in PJS patients. Based on our analysis, 50% of patients had bilateral ovarian involvement and 44.4% of tumours were in microscopic size. Therefore, bilateral ovarian exploration is recommended for the PJS patients with ovarian mass(es). If the SCTAT is diagnosed in one ovary in a PJS patient, a biopsy of the contralateral ovary should be performed.

Ovarian SCTAT exhibits low malignant potential and typically presents with late recurrence.12 Notably, all 3 reported cases of malignant ovarian SCTAT occurred in adults.15-17 While ovarian SCTAT in PJS patients rarely exhibits malignant behaviour, it may coexist with other malignancies. In our review, two cases presented with concurrent tumours: one with ovarian serous cyst and another with cervical adenocarcinoma diagnosed at age 23.5 Therefore, comprehensive screening of the digestive tract, thyroid, breasts, testes or uterus and ovaries is crucial for children with PJS.

Due to the rarity of ovarian SCTAT in children with PJS, a standardised treatment protocol is lacking. Considering the low malignant potential of SCTAT in children with PJS and the future reproductive needs, fertility-sparing surgery is the preferred approach whenever feasible. For children with unilateral disease, unilateral ovarian tumour enucleation (if possible) or oophorectomy can be performed. In cases of bilateral ovarian involvement, ovarian tumour enucleation is recommended.

The prognosis for ovarian SCTAT in PJS patients is generally favourable. While no cases of malignant SCTAT have been reported in children with PJS, one patient diagnosed with ovarian SCTAT in childhood died from cervical cancer at age 26. Therefore, long-term follow-up is essential for children with ovarian SCTAT, extending into adulthood.

We present this case and review the literature to highlight the importance of increased awareness and understanding of ovarian SCTAT in children with PJS among paediatricians. Fertility-sparing complete tumour resection is the recommended approach for SCTAT in this population, and long-term follow-up is mandatory for all the postoperative patients.

Compliance with Ethical Standards

Conflict of Interest
All authors have disclosed no conflicts of interest.

Informed Consent
Informed consent for publishing clinical photos and clinical information was obtained from her parents.

Funding/Support
This research received no specific grant from any funding agency in the public, commercial, or not-for-profit sectors.


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