Keywords:
Peutz-Jeghers syndrome - Sex cord-gonadal stromal tumors - Ovarian sex cord-stromal
tumours - Mucinous cystadenoma - Mucinous ovarian tumors
Palavras-chave:
Síndrome de Peutz-Jeghers - Tumores do estroma cordão-gonadal sexual - Tumores do
cordão sexual ovariano - Cistadenoma mucinoso - Tumores mucinosos do ovário
INTRODUCTION
Sex cord tumor with annular tubules (SCTAT) is a rare type of sex cord stromal tumor,
which differs from other tumors in its histomorphology.[1] Approximately one third of SCTAT are associated with PeutzJeghers syndrome (PJS).[1]
[2] PJS is a rare autosomal dominant disease with no gender preference,[3] characterized by multiple hamartomatous polyps in the gastrointestinal tract associated
with mucocutaneous melanic pigmentation. Patients with PJS have an increased risk
of other neoplasms involving the gastrointestinal tract, breast, female genital tract,
testis, and pancreas.[4]
The aim of this paper is to report a rare case of sex cord tumor with annular tubules
in ovary as an occasional finding, associated with PJS, in a 53-year-old patient with
previous history of multiple neoplasms, who underwent resection of giant cystadenoma
in contralateral ovary. No similar cases were found in the literature.
CASE REPORT
Female, 53-years-old, with PJS and personal history of several tumors. She could not
tell much about her family history, only that her father died of cardiovascular disease
and her mother died of thrombosis during the puerperium, being raised by her paternal
grandmother. During a routine examination for her disease history and PJS, a mucinous
cystic lesion was discovered in the left ovary.
The patient was asymptomatic and underwent a transvaginal ultrasound that revealed
an anechoic, regular, septated cyst with no vascularization in left ovary, with volume
of 61cm3, occupying the entire ovarian tissue with benign characteristics. The right ovary
volume was 2.9cm3 with normal appearance. Subsequent computed tomography (CT) scan revealed similar
aspects of the lesion. She had TUS from two years earlier with no particularities.
Laboratory exams and serum CEA (carcinoembryonic antigen) and CA-19.9 levels were
normal. The patient then underwent ovarian debuking surgery, with salpingectomy and
bilateral oophorectomy. The complex solid-cystic lesion of the left ovary was resected
and measured about 30cm in diameter, showing a smooth capsule and there were no peritoneal
implants. Transoperative freezing of the specimen revealed a mucinous cystadenoma
(benign). However, during the transoperative freezing, a white area was suspected
in the contralateral (right) ovary, which was later diagnosed as a sex cord tumor
with annular tubules on pathology ([Figures 1] and [2]). The patient was admitted to an ICU bed, and two days after the procedure she developed
acute abdomen, with intestinal obstruction and suffering from a transverse colon loop,
presenting an area of ischemia with perforation and local collection. Laparotomy and
debridement of the devitalized intestinal wall in two-layer raffia were performed.
After surgery, the patient progressed well.
Figure 1 Macroscopy of sex cord tumor
Figure 2 Microscopy of sex cord tumor with annular tubules
The patient was followed up exclusively through Brazil's unified health system (SUS),
which made further genetic evaluations difficult. In addition to her follow-up, several
biopsies were performed in the past, showing invasive mucinous carcinoma in the left
breast, intestinal tubulovillous adenoma with low-grade dysplasia, papillary thyroid
carcinoma, well differentiated clear cell renal cell carcinoma, and epithelial bladder
cancer.
DISCUSSION
SCTAT is a rare type of ovarian stromal tumor that differs from other sex cord stromal
tumors in its distinct histomorphology. The histological types of sex cord tumors
are: adult granulosa cell tumor, juvenile granulosa cell tumor, Sertoli-Leydig cell
tumor, sex cord tumor with annular tubules, and mixed forms including gynandroblastoma.[6]
Among them, the most common are juvenile granulosa cell tumors and Sertoli-Leydig
cell tumors, accounting for approximately 85% of cases. Sex cord tumors with annular
tubules, on the other hand, represent <1% of all sex cord tumors and typically occur
in patients in their third or fourth decade of life.[1] This tumor was first reported by Scully in 1970, who described its characteristic
histology and association with Peutz-Jeghers syndrome (PJS).[1]
[5] Sex cord tumors with annular tubules show tubules with Sertoli cells arranged around
one or more hyaline bodies. In patients with Peutz-Jeghers syndrome, these tubules
may be scattered and mixed with normal ovarian tissue rather than forming a distinct
mass.[6]
PJS is an hereditary syndrome caused mostly by germinative mutations in the STK11
tumor suppressor gene.[7]
[8] Patients with PJS have two characteristic clinical manifestations of the syndrome:
mucocutaneous melanotic macules and multiple hamartomatous polyps in the gastrointestinal
tract. Mucocutaneous lesions are present in 95% of the patients and are typically
located on the lips, perioral region, gums, palms of the hands, and soles of the feet.[9] Polyps are most prevalent in the small intestine (60-90%), mainly jejunum, stomach
(15-30%), and colon (50-64%).[8] In addition, PJS is associated with an increased risk of malignancies. Patients
with PJS have an increased risk of developing cancers of the gastrointestinal tract,
as well as non-gastrointestinal epithelial malignancies, mainly in the breast, uterus,
lung, ovary, and testis.
Considering the patients diagnosed with SCTAT, about one third have PJS.[10] Clinical presentations include irregular menstruation, hyperestrinism, the presence
of a mass and abdominal/pelvic pain, and in young people there may be sexual precocity.[1]
[10] The vast majority of patients with SCTAT and PJS also have gastrointestinal polyposis
and mucocutaneous melanin pigmentation.[10]
Most ovarian SCTAT are benign.[5]
This tumor varies depending on how it presents with PJS. There are two clinical presentations:
the tumors associated with PJS are usually small, solid and bilateral and have a low
malignant potential (hereditary form), and the other occurs as a solitary neoplasm
in patients without evidence of the syndrome (sporadic form).[1]
[5] Patients with PJS are slightly younger (mean age 27 years) than those without the
syndrome (mean age 36 years). The sex cord stromal tumors, other than SCTAT, associated
with PJS are Sertoli cell tumors, granulosa cell tumors, steroid cell tumors, SertoliLeydig
cell tumor, and unclassified sex cord stromal tumors. Sertoli cell tumor is the most
common.[4]
Hence, although there is some divergence in the literature, the SCTAT seems to have
morphological characteristics intermediate between granulosa cell tumors and Sertoli
cell tumors.[1]
[10] Histologically, this tumor type is characterized by well-circumscribed rounded epithelial
nests, simulating an appearance of ring-shaped tubes surrounding hyaline bodies. These
nests have two patterns: simple and complex tubular structures, with and without hyaline
nuclei.[1]
There is still no gold standard for the treatment of SCTAT, due to its rarity. Surgical
treatment is generally proposed, with unilateral or bilateral adnexectomy or hysterectomy,
according to the stage and desire to gestate.[11] Unilateral salpingo-oophorectomy is the treatment of choice in unilateral encapsulated
tumors and where fertility preservation is necessary. Adjuvant treatment with chemotherapy
should be considered in cases of large tumors.[5] The prognosis is positive, but the risk of recurrence is considered high.[11] Follow-up can be performed with serum estrogen and progesterone dosage along with
inhibin levels.
Bibliographical Record
Nathalia Beck Corrêa, Laura Paggiarin Skonieski, Francisco Costa Beber Lemanski, Rafael
Baldissera. Incidental finding of sex cord tumor with annular tubules in ovary associated
with Peutz-Jeghers syndrome. Brazilian Journal of Oncology 2022; 18: e-20220343.
DOI: 10.5935/2526-8732.20220343
