Sex Cord Tumor With Annular Tubules Research Articles

Les tumeurs des cordons sexuels à tubules annelés : à propos de 4 cas et revue de la littérature

Sex cord tumor with annular tubules (SCTAT) is a rare ovarian tumor. It belongs to sex cord and stromal tumor of the ovary and represents less than 1% of cases. It includes two forms: the first one associated with Peuz-Jeghers syndrome and the second sporadic. We report 4 cases of SCTAT collected at the department of pathology of Salah Azaiez Institute of Tunis over the 12 last years. The age ranged from 10 to 32 years. Symptoms were non specific except for one case revealed by precocious puberty. One patient had Peutz-Jeghers syndrome associated. Tumors were unilateral. Gross findings showed often a solid tumor with yellow cut surface. Their size ranged from 0.5cm to 28cm. Their morphological features were characteristic. Immunohistochemistry showed that tumor cells expressed inhibin and claretinin. The treatment was surgical, often conservative. The diagnosis of malignancy wasn't focused on histological features, but on tumor extension, clinical course, and presence of metastases. Evolution was often favorable. We also performed a systematic review of the literature that identified 166 cases. Features of these cases were studied. We also compared these features between sporadic and syndromic forms and between benign and malignant forms. In conclusion, SCTAT is a rare tumor, usually benign. Its diagnosis is based on histological examination. There is a malignant potential especially in sporadic forms, estimated at 20%. Treatment is most often conservative, based on oophorectomy.

Bilateral Peutz-Jeghers-Associated Sex Cord Tumor With Annular Tubules Combined With Unilateral Adult Granulosa Cell Tumor: A Case Report.

Sex cord tumor with annular tubules (SCTATs) is a rare sex cord stromal tumor in the ovary. SCTAT combined with adult granulosa cell tumor (AGCT) is even rarer. Here, we report a unique case of ovarian tumors with mixed AGCT and SCTAT components. Due to the unusual coexistence, molecular testing was separately performed on each ovary. Both SCTAT and AGCT components were found to have STK11 germline mutation. Furthermore, the AGCT component had an additional FOXL2 somatic mutation. Based on medical history and molecular testing we conclude that the ovarian tumors were associated with Peutz-Jeghers syndrome (PJS). Thus, we present the first report of bilateral PJS-associated SCTAT combined with unilateral AGCT.

True hermaphroditism with sex cord tumor with annular tubules (SCTAT): a rare case report and review of the literature

BackgroundTrue hermaphroditism is a rare condition. It is defined as the presence of both testicular and ovarian tissues in the same individual. Sex cord tumour with annular tubules (SCTAT) is a rare stromal tumour of the sex cord that occurs mostly in the ovaries.Case presentationA 16-year-old girl presented to the gynaecology department with primary amenorrhea. Gynaecological examination revealed an enlarged clitoris that looked like a small penis. The chromosome karyotype was chimaera. The postoperative pathology confirmed true hermaphroditism with SCTAT. The patient underwent hormonal replacement after an operation and had no evidence of recurrence for 6 months.ConclusionCases of true hermaphroditism with SCTAT are extremely rare conditions. Surgery and hormonal replacement are important for improving the prognosis of such patients.

Ovarian sex cord tumor with annular tubules: case report and review of the literature

To report a case of ovarian sex cord tumor with annular tubules (SCTAT) and conduct a literature review on diagnosis, treatment and prognosis of this condition. Case report of a woman with a final diagnosis of advanced SCTAT seen at the National Cancer Institute in Bogota (Colombia) who received surgical treatment and chemotherapy with a satisfactory course after 6 months. A literature search was conducted in the Medline via PubMed, LILACS and Scielo databases, including case reports and series of women diagnosed with SCTAT published since 1990, not using age ranges. Information about diagnosis, treatment and reported prognosis was retrieved. A narrative summary of the findings was prepared. Fourteen publications with 26 patients were included. Mean age at diagnosis was 22.5 years. The main symptoms were menstruation abnormalities and pelvic pain. Computed tomography (CT) was the imaging technology most frequently used. Surgical treatment was used in all cases, together with chemotherapy in 29 %; 2 patients received radiotherapy. Recurrence occurred in 20 % of cases. Mortality was 12.5 %, with all deaths occurring within the first year. There is a paucity of information about the diagnostic utility of imaging, tumor markers and histochemical studies, as well as prognosis of this disease condition. Surgery is the treatment of choice, taking into consideration the patient’s wishes regarding fertility, as well as the stage of the tumor. Further studies are needed to provide more detailed information about this condition.

Genetic alternation in Peutz-Jeghers Syndrome (PJS) and its Diagnostic Method

Peutz-Jegers Syndrome (PJS) autosomal dominant disorder characterized by melanin spots, colon polyps and increased risk of cancer, especially due to mucosal skin pigmentation of the red edges of the lips, and gastrointestinal hematogenous polyposis. PJS was first reported in 1895. PJS can caused with or without mutation. Polyps have also been seen in the ureter, airway body system, and gastrointestinal system. The most common location is jejunum. DBE is an enteroscopy technique that enables the evaluation and treatment of the small bowel. Cancers of the colon, stomach, small intestine, pancreas, breast, and other organs are more common in PJS patients. PJS has a strong link with several malignancies like adenoma malignum (ADM) and a rare ovary tumor called sex cord tumor with annular tubules (SCTATs) in female PJS patients. Key words: Peutz-Jeghers Syndrome; intraoperative enteroscopy; dual-balloon enteroscopy

妊孕性を温存し得た卵巣の輪状細管を伴う性索腫瘍（SCTAT）の1女児例

妊孕性を温存し得た卵巣の輪状細管を伴う性索腫瘍（SCTAT）の1女児例

Sex cord tumor with annular tubules of ovary- An unusual case report

Sex cord tumor with annular tubules (SCTAT) accounts for approximately 2.3% of Sex cord stromal tumor (SCST) and is a relatively infrequently encountered, distinctive type of ovarian neoplasm. SCTAT is most commonly seen in females of reproductive age group. Peutz-Jeghers syndrome (PJS) may be associated with SCTAT in one-third of the patients. A 23 year old unmarried female presented with pain abdomen and mass per abdomen. Ultrasonography revealed a left adnexal mass. Considering clinical presentation and radiological findings, a differential diagnosis of teratoma/ dysgerminoma was given. Intraoperatively, a large left ovarian mass was noted. The mass was excised and sent for histopathology study. On microscopy, diagnosis of SCTAT was rendered. SCTAT are uncommon tumors with unique morphologic pattern. Our case was a non-syndromic case with no other features of PJS. Since 15-20% of non-syndromic cases can have a malignant course later in life, a long term follow up is required. Key message: Ovarian tumors at young age like SCTAT are very important to diagnose accurately as patient’s prognosis has to be weighed against preserving fertility and these tumors should be followed up for a long period. Keywords: Ovarian tumor, Peutz-Jeghers syndrome, Reproductive age group.

Non-Peutz–Jeghers syndrome-associated ovarian sex cord tumor with annular tubules treated by radiotherapy: a case report and literature review

There are no standard treatment options for metastatic and recurrent non-Peutz–Jeghers syndrome (PJS)-associated sex cord tumor with annular tubules (SCTAT). The effects of chemotherapy and/or radiotherapy are still not well-defined. Herein, we present a case of a metastatic and recurrent non-PJS-associated SCTAT showing high serum estradiol and progesterone concentrations after surgery and chemotherapy. Radiotherapy (50 Gy/25 fractions) triggered a sharp reduction in the sizes of the metastatic and recurrent masses, and estradiol and progesterone concentrations. Accordingly, we consider that radiotherapy might be effective and safe for metastatic and recurrent SCTAT. The roles of radiotherapy in non-PJS SCTAT should be further validated in large-scale prospective clinical trials.

Occult Expression of Non Syndromic Sex Cord Tumor with Annular Tubules in Ovary with Coexistent Cervical Fibroid

Sex Cord Tumor with Annular Tubules (SCTAT) is a rare ovarian tumor. It has morphological features intermediate between that of granulosa cell and sertoli cell. It is considered an estrogen and progesterone secreting tumor carrying low malignant potential. Due to its rare occurrence, its clinical recognition is difficult; hence, there are no standard treatment protocols. We present an incidentally detected SCTAT in the ovary coexisting with cervical fibroid.

Characterization of an Unusually Aggressive Ovarian Malignant Sex Cord Stromal Tumor in an Adolescent Female With Peutz-Jeghers Syndrome

Abstract Peutz-Jeghers syndrome (PJS) is a rare autosomal dominant disorder with mutations in SKT11 (19p13.3), mucocutaneous hyperpigmentation, gastrointestinal hamartomatous polyposis, and increased cancer predisposition. A PJS-associated distinctive ovarian tumor is sex cord tumor with annular tubules (SCTAT), which is multifocal, microscopic, bilateral, and almost always clinically benign. Non-SCTAT ovarian tumors with malignant behavior are exceptionally rare. We describe a malignant, multiply recurrent, widely metastatic sex cord stromal tumor in PJS. Case Report: A 17-year-old female presented with new complaints of unintentional weight loss, alopecia, and abdominal fullness. She had a PJS diagnosis at age 7 with mucocutaneous pigmentation, gastrointestinal polyposis, and STK11 mutation. CT showed a 23-cm abdominopelvic mass with diffuse peritoneal metastases and malignant pleural effusion. CA-125 was elevated. CEA, CA 19-9, β-hCG, AFP, and LDH were normal. Laparoscopic biopsy pathology revealed a tumor composed of sheets and loose aggregates of mitotic spindled and round heterogenous eosinophilic and basophilic cells within fibromyxoid stroma. Rare tubules with eosinophilic cytoplasm and focal foamy cells were also seen. IHC was significant for inhibin, calretinin, CD56 and WT1 positivity, and cytokeratin and EMA negativity, consistent with poorly differentiated sex cord stromal tumor. Interestingly, EM showed neurosecretory dense core granules and neurite-like processes. After neoadjuvant therapy, the resected left adnexal mass was 25.5 cm, purple-gray/tan-red, heterogeneous, diffusely cystic, diffusely edematous, rubbery to spongy. In the left ovary were also found unassociated microscopic SCTAT foci. During adjuvant chemotherapy, the patient became pregnant. During the pregnancy, the patient developed liver and pelvic peritoneal recurrence and continued altered chemotherapy. She delivered a healthy late-preterm infant but also concurrently had diffuse peritoneal recurrence. She underwent two more cycles of adjuvant chemotherapy. Approximately 2 years after finishing adjuvant chemotherapy, she again developed peritoneal recurrences, which were resected, and partial chemotherapy response was seen on pathology. She is currently undergoing additional chemotherapy cycles 4 years since the initial diagnosis.

Clinicopathological analysis of non-gestational ovarian choriocarcinoma: Report of two cases and review of the literature.

The aim of the present study was to analyze the clinicopathological features of two cases of non-gestational ovarian choriocarcinoma (NGCO). The histopathological, immunohistochemical and clinical features of two cases of NGCO in the left ovaries of two 13 year-old female patients were investigated and the relevant literature was reviewed. In both cases, the tumor masses exhibited cribriform, papillary and nested cellular growth patterns, and hemorrhage and necrosis were evident. In case one, the patient also exhibited a sex cord tumor with annular tubules (SCTAT) in the right ovary. To the best of our knowledge, the synchronous occurrence of these two tumor types has not been reported previously. Immunohistochemically, the tumor cells of choriocarcinoma in both cases were positive for human chorionic gonadotropin and cytokeratin, while those of SCTAT were positive for CD56 and CD99. NGCO is an extremely rare germ cell tumor of high-grade malignancy, and STCAT is even rarer. Early metastasis of NGCO is common and the disease has a poor prognosis. In the present study, one patient succumbed within 4 months of diagnosis with NGCO and the other patient was lost to follow-up after 12 months.

Management and prognosis of patients with ovarian sex cord tumor with annular tubules: a retrospective study.

BackgroundOwing to the rarity of sex cord tumor with annular tubules (SCTAT), it is difficult to recognize SCTAT clinically and there is no standard treatment. The aim of our study was to investigate the treatment outcomes and prognosis of patients with ovarian SCTAT.MethodsA cohort of 13 patients with SCTAT diagnosed and treated in Peking Union Medical College Hospital was studied. Data on clinicopathological characteristics, treatment, and prognosis were retrospectively reviewed and analyzed.ResultsSCTAT accounted for 1.4% of ovarian sex cord stromal tumors, with an average onset age of 22.6 years. All patients presented with menstrual disturbances or isosexual precocity at disease onset. Initial surgery was unilateral salpingo-oophorectomy in 11 cases. Recurrence rate was 46.2%, and 38.5% of patients experienced multiple recurrences. The disease free interval gradually shortened with increasing numbers of recurrences. Recurrent tumors were mostly ipsilateral to the primary tumor and located in retroperitoneum. Surgery remained the main treatment for recurrent cases. Serum estradiol and progesterone levels usually elevated at disease onset, decreased dramatically after operation, and they elevated again with the development of recurrence. The median progression-free survival (PFS) was 97.8 months, and the 1-year and 5-year PFS were 92% and 67%, respectively. Five-year overall survival (OS) was 100%.ConclusionsUnilateral salpingo-oophorectomy is a feasible treatment for primary SCTAT cases with intact capsules and without PJS. Complete tumor resection is suggested for recurrent cases and long-term follow-up is strongly recommended. Despite the high risk of recurrence, SCTAT prognosis is relatively favorable.

Hereditary gynecological tumors associated with Peutz-Jeghers syndrome (Review)

Peutz-Jeghers syndrome (PJS) is an autosomal dominant disease that is characterized by gastrointestinal hamartomatous polyposis and mucocutaneous melanin spots. The tumor suppressor gene, STK11/LKB1, which is located on chromosome 19p13.3, has been reported to be responsible for this condition. PJS is complicated by benign and malignant tumors of various organs and complications from rare diseases, including sex cord tumor with annular tubules (SCTAT) and minimal deviation adenocarcinoma (MDA), which have also recently attracted attention in the field of gynecology. Among the total MDA cases, 10% are complications of PJS, and mutations in the STK11 gene are closely associated with the development and prognosis of MDA. Furthermore, a new type of uterine cervical tumor, lobular endocervical glandular hyperplasia (LEGH), has been identified and has been predicted to be a precancerous lesion of MDA. The first case of LEGH induced by a germline STK11 mutation has also been described. A high risk of endometrial cancer in PJS has also been reported. These developments suggest that PJS is an important syndrome of hereditary gynecological tumors that requires further study.

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

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.

Peutz-Jeghers症候群に高分化型子宮頸部腺癌と卵巣性索腫瘍 (SCTAT) を合併した1症例

Peutz-Jeghers症候群に高分化型子宮頸部腺癌と卵巣性索腫瘍 (SCTAT) を合併した1症例

Gynecological tumors in patients with Peutz-Jeghers syndrome (PJS)

Peutz-Jeghers syndrome (PJS) is an autosomal dominant disorder characterized by the development of hamartomatous polyposis in the gastrointestinal tract and melanin-pigmented macules on the skin mucosa. The responsible gene is a tumor suppressor, STK11/LKB1, on chromosome 19p13.3. PJS complicates with benign and malignant tumors in various organs. In gynecology, there has been a particular focus on complications of PJS with sex cord tumor with annular tubules (SCTAT) and minimal deviation adenocarcinoma (MDA), which are rare diseases. Approximately 36% of patients with SCTAT are complicated with PJS and these patients are characterized by multifocal, bilateral, small and benign lesions that develop into tumors with mucinous to serous ratios of 8:1. In addition, 10% of cases of MDA are complicated with PJS and mutation of STK11, the gene responsible for PJS, has a major effect on onset and prognosis. The disease concept of lobular endocervical glandular hyper-plasia (LEGH) has recently been proposed and LEGH is thought to be a potential premalignant lesion of MDA, however, the relationship between PJS and LEGH remains unclear. Several case reports of PJS patients complicated with gynecological tumors have been published and further studies are needed to determine the underlying causes

An Unusual Case of Sex Cord Tumor With Annular Tubules With Malignant Transformation in a Patient With Peutz-Jeghers Syndrome

We report a case of a 54-year-old Caucasian woman with an earlier diagnosis of Peutz-Jeghers Syndrome (PJS) and sex cord tumor with annular tubules (SCTAT). The sex cord stromal tumors showed aggressive malignant behavior with repeated recurrence and metastasis. This is an unusual behavior of SCTAT in patients with PJS, with only 2 such cases reported earlier. Genetic analysis revealed that the patient has a new (unreported earlier) missense mutation of the LKB1 gene. A review of the literature reporting the clinicopathologic features and biologic behavior of SCTAT in patients with and without PJS is presented. We discuss the presentation and management of this case and highlight the importance of considering the possibility of aggressive behavior of these tumors in the management of patients with PJS.

Sex Cord Tumor with Annular Tubules in a Young Adolescent with Von Willebrand's Disease

Background Ovarian sex cord tumor with annular tubules (SCTAT) is a rare form of ovarian neoplasm. Case A 12-year-old female presented with menometrorrhagia. During her evaluation, she was both diagnosed with von Willebrand disease (VWD) and found to have an ovarian neoplasm, which was ultimately determined to be an ovarian sex cord tumor with annular tubules (SCTAT). Summary and Conclusion As her diagnosis was temporally associated with her worsening symptoms and the presence of an ovarian mass, this tumor may have played a role in her VWD diagnosis. There are no previously reported cases of SCTAT associated with VWD. This case reminds physicians of the importance of evaluating patients with menometrorrhagia for bleeding conditions, in addition to considering hormone-secreting ovarian neoplasms, including SCTAT.

Non-Peutz-Jeghers syndrome associated ovarian sex cord tumor with annular tubules: a case report

Sex cord tumors with annular tubules (SCTAT) are a rare subtype of sex cord stromal tumor of the ovary. An evidence-based management plan with follow-up evaluations is difficult to outline because of the rarity of these tumors. We describe the case of a premenarcheal patient with a SCTAT. Case report. The patient was encountered during routine patient care process. The patient presented with a pelvic mass and precocious puberty. Her condition was diagnosed as SCTAT. Her clinical presentation was consistent with an estrogen-secreting tumor, resulting in early menarche and premature breast development. Inhibin and estradiol levels were markedly elevated preoperatively and normalized 5 weeks after surgical removal of the tumor. The preoperative computed tomography scan demonstrated a 12-cm abdominopelvic mass, which appeared to be mostly cystic. The patient was treated surgically. She underwent laparotomy, right salpingo-oophorectomy, ipsilateral pelvic and paraaortic lymph node sampling, and partial omentectomy. Peritoneal biopsy samples were obtained from the abdomen and pelvis. The patient did well postoperatively. She is being observed with serial examinations and serum inhibin measurements. Normalization of serum estradiol and inhibin along with cessation of menstruation were seen 5 weeks postoperatively, with persistence of morphologic signs of precocious puberty and advanced bone age at 11 months after the diagnosis. The diagnosis of SCTAT was established on final pathology examination based on morphologic features of the tumor microscopically and the marker expression profile on immunohistochemistry. Primary management was surgical.

Ultrasound of ovarian sex-cord tumor with annular tubules

Sex-cord tumors with annular tubules (SCTAT) have been extensively reported in the literature with great emphasis on the cytologic and histologic appearance. The association of Peutz-Jeghers syndrome (PJS) with bilateral benign, typically multifocal, small, and sometimes calcified SCTAT has also been reported. We present and describe the sonographic findings of bilateral SCTAT in a patient with PJS.