RESUMEN
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.
Asunto(s)
Neoplasias Ováricas , Síndrome de Peutz-Jeghers , Tumores de los Cordones Sexuales y Estroma de las Gónadas , Femenino , Humanos , Niño , Adolescente , Adulto Joven , Adulto , Tumores de los Cordones Sexuales y Estroma de las Gónadas/diagnóstico , Tumores de los Cordones Sexuales y Estroma de las Gónadas/cirugía , Neoplasias Ováricas/diagnóstico , Neoplasias Ováricas/cirugía , Neoplasias Ováricas/patología , Síndrome de Peutz-Jeghers/patología , Ovariectomía , InhibinasRESUMEN
We report an infertile, but otherwise asymptomatic woman, whose extremely high anti-Mullerian hormone (AMH) level detected during infertility investigation led to the diagnosis of sex cord tumor with annular tubules (SCTAT) which is a very rare sex cord-stromal tumor (SCST) and eventually revealed a previously undiagnosed hereditary cancer syndrome, Peutz-Jeghers syndrome (PJS). A 33-year-old woman attended Kocaeli University ART Clinic for infertility evaluation. Her AMH level was 319.63 ng/ml. Detection of bilateral ovarian cysts required surgical evaluation. The histopathological examination of ovaries revealed SCTAT. The strong association of SCTAT with PJS raised the suspicion of this syndrome. Whole STK11 gene sequencing confirmed PJS diagnosis. AMH has become a widely used tool in the evaluation of infertile women. Clinicians dealing with infertility should be familiar with the utility of AMH measurement besides being a marker of ovarian reserve. Detection of high AMH concentrations should raise the suspicion of an SCST.
Asunto(s)
Infertilidad Femenina , Neoplasias Ováricas , Síndrome de Peutz-Jeghers , Tumores de los Cordones Sexuales y Estroma de las Gónadas , Adulto , Hormona Antimülleriana , Femenino , Humanos , Infertilidad Femenina/diagnóstico , Infertilidad Femenina/etiología , Síndrome de Peutz-Jeghers/complicaciones , Síndrome de Peutz-Jeghers/diagnóstico , Síndrome de Peutz-Jeghers/genética , Tumores de los Cordones Sexuales y Estroma de las Gónadas/complicaciones , Tumores de los Cordones Sexuales y Estroma de las Gónadas/diagnósticoRESUMEN
Background Peutz-Jeghers syndrome (PJS) is characterized by hamartomatous gastrointestinal polyposis, mucocutaneous pigmentation and cancer predisposition. The clinical features of PJS manifest in first two decades of life; however, neonatal presentation is uncommon. Case report: We present a five day old girl with PJS that presented with obstructive hamartomatous polyps in the sigmoid colon. At colostomy closure at six months, an incidental ovarian sex-cord tumor with annular tubules (SCTAT) was detected. It showed predominantly a solid pattern with limited tubule formation and was composed of lipid-rich cells. She had no hormonal symptoms. Conclusion: SCTAT can occur as young as six months of age in PJS, and may show histologic overlap with lipid-rich Sertoli cell tumors.
Asunto(s)
Neoplasias Ováricas , Síndrome de Peutz-Jeghers , Tumores de los Cordones Sexuales y Estroma de las Gónadas , Femenino , Genotipo , Humanos , Recién Nacido , Neoplasias Ováricas/patología , Síndrome de Peutz-Jeghers/complicaciones , Síndrome de Peutz-Jeghers/diagnóstico , Síndrome de Peutz-Jeghers/patología , Tumores de los Cordones Sexuales y Estroma de las Gónadas/complicaciones , Tumores de los Cordones Sexuales y Estroma de las Gónadas/diagnóstico , Tumores de los Cordones Sexuales y Estroma de las Gónadas/patologíaRESUMEN
Sex cord tumor with annular tubules (SCTAT) is rare, and 20% of SCTAT cases, excluding those associated with Peutz-Jeghers syndrome, are clinically malignant. Limited data is available regarding the role of chemotherapy in the management of SCTAT. We encountered a 44-year-old woman with recurrent SCTAT complicated by peritoneal dissemination following a right adnexectomy. The surgical resection could not be performed completely due to the wide extension of the tumor. Considering the potential of becoming malignant, we chose a combination of bleomycin, etoposide and cisplatin (BEP) as postoperative chemotherapy treatment. However, the patient showed partial response following a complete BEP regimen. The patient received three courses of chemotherapy with docetaxel and carboplatin plus bevacizumab. After the combination chemotherapy, positron emission tomography-computed tomography scan confirmed a complete response, and is currently continuing bevacizumab treatment without relapsing and having no major adverse effects from complications. This case proved the potential of a combination of taxane and bevacizumab in patients with recurrent SCTAT.
Asunto(s)
Protocolos de Quimioterapia Combinada Antineoplásica/uso terapéutico , Bevacizumab/uso terapéutico , Hidrocarburos Aromáticos con Puentes/uso terapéutico , Neoplasias Ováricas/tratamiento farmacológico , Tumores de los Cordones Sexuales y Estroma de las Gónadas/tratamiento farmacológico , Taxoides/uso terapéutico , Adulto , Femenino , Humanos , Neoplasias Ováricas/patología , Ovario/patología , Tumores de los Cordones Sexuales y Estroma de las Gónadas/patologíaRESUMEN
A sex cord tumor with annular tubules (SCTAT) is a rare but distinctive subtype of sex cord stromal tumor of the ovary. Its clinical features depend on an association with Peutz-Jeghers syndrome (PJS). SCTAT associated with PJS typically manifests as bilateral, multifocal, and small lesions and is clinically benign. In contrast, SCTAT not associated with PJS often manifests as a unilateral large mass and 20% of such tumors have malignant potential. Most patients with SCTAT are diagnosed at stage I, and metastasis is rare. Here we present a case of malignant SCTAT of stage III A1(ii) (retroperitoneal lymph node metastasis, largest dimension of metastasis >10 mm) in a 14-year-old girl without PJS.
Asunto(s)
Neoplasias Ováricas/diagnóstico , Neoplasias Ováricas/patología , Síndrome de Peutz-Jeghers/diagnóstico , Síndrome de Peutz-Jeghers/patología , Tumores de los Cordones Sexuales y Estroma de las Gónadas/diagnóstico , Tumores de los Cordones Sexuales y Estroma de las Gónadas/patología , Adolescente , Femenino , Humanos , Estadificación de NeoplasiasRESUMEN
BACKGROUND: Sex cord-stromal tumors with annular tubules are a rare tumor accounting for less than 1% of all ovarian malignancies. However, they are characterized by very late recurrence, which can be as late as 30 years after diagnosis and treatment. CASE PRESENTATION: A 16-year-old female Caucasian patient was treated in our department for a stage IA ovarian sex cord-stromal tumors with annular tubules. She underwent a left salpingo-oophorectomy and ipsilateral pelvic node biopsy with no adjuvant treatment. She was seen for amenorrhea after being lost to follow up for 16 years. The diagnosis of recurrence was made by radiology and the elevation of serum inhibin B level. The patient underwent resection of the tumor, left segmental colectomy, and paraaortic lymphadenectomy because the mass was massively adherent to the left mesocolon. Histology confirmed the diagnosis with no metastatic lymph nodes. No adjuvant therapy was indicated. The patient was lost to follow-up again for 4 years and re-presented for amenorrhea. Serum inhibin B level was high. A second recurrence was suggested, and the patient underwent a laparoscopic surgery. We performed left pelvic and paraaortic lymphadenectomy, and 3 months after surgery the patient was pregnant. CONCLUSION: Sex cord-stromal tumors with annular tubules is a slow-growing ovarian tumor with a high potential for recurrence and metastasis. Surgery is the mainstay of treatment. Due to the rarity of these tumors, they are often unsuspected and thus incompletely staged before primary surgery; the diagnosis is made by histological examination. The prognosis of these patients is unknown, and they require long-term follow-up.
Asunto(s)
Recurrencia Local de Neoplasia , Neoplasias Ováricas , Tumores de los Cordones Sexuales y Estroma de las Gónadas , Humanos , Femenino , Neoplasias Ováricas/patología , Neoplasias Ováricas/cirugía , Neoplasias Ováricas/diagnóstico , Adolescente , Tumores de los Cordones Sexuales y Estroma de las Gónadas/cirugía , Tumores de los Cordones Sexuales y Estroma de las Gónadas/patología , Tumores de los Cordones Sexuales y Estroma de las Gónadas/diagnóstico , Escisión del Ganglio Linfático , Metástasis Linfática , Ganglios Linfáticos/patología , Salpingooforectomía , Inhibinas/sangreRESUMEN
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.
Asunto(s)
Tumor de Células de la Granulosa , Neoplasias Ováricas , Síndrome de Peutz-Jeghers , Tumores de los Cordones Sexuales y Estroma de las Gónadas , Femenino , Adulto , Humanos , Tumor de Células de la Granulosa/diagnóstico , Tumor de Células de la Granulosa/genética , Tumores de los Cordones Sexuales y Estroma de las Gónadas/diagnóstico , Tumores de los Cordones Sexuales y Estroma de las Gónadas/genética , Neoplasias Ováricas/complicaciones , Proteínas Serina-Treonina Quinasas , Mutación de Línea Germinal , Síndrome de Peutz-Jeghers/complicaciones , Síndrome de Peutz-Jeghers/diagnóstico , Síndrome de Peutz-Jeghers/genéticaRESUMEN
Peutz-Jeghers syndrome (PJS) is a rare autosomal dominant genetic disorder characterized by mucocutaneous pigmentation and multiple hamartomatous polyps in the gastrointestinal tracts. About 11% of female PJS patients are diagnosed with Gastric-type endocervical adenocarcinoma (G-EAC) and about one third have a sex-cord tumor with annular tubules (SCTATs). Gastric-type endocervical adenocarcinoma is a special subtype of cervical adenocarcinoma which accounts for only 1-3%. Here we report a rare case of a 31-year-old woman affected with G-EAC and SCTAT accompanied by PJS. After surgery, we followed up for 5 years without recurrence.
RESUMEN
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.
Asunto(s)
Neoplasias Ováricas , Síndrome de Peutz-Jeghers , Tumores de los Cordones Sexuales y Estroma de las Gónadas , Estrógenos , Femenino , Humanos , Síndrome de Peutz-Jeghers/complicaciones , Estudios Prospectivos , Tumores de los Cordones Sexuales y Estroma de las Gónadas/radioterapiaRESUMEN
Sex cord tumor with annular tubules (SCTAT) is a highly rare type of ovarian sex cord-stromal tumor (SCST), the diagnosis of which remains to be challenging. The aim of this study was to scrutinize the utility of three immunohistochemical markers including Forkhead box protein 2 (FOXL2), SOX9, and ß-catenin and DICER1 mutation status in distinguishing SCTATs from other ovarian SCSTs. Nine cases of SCTAT, 10 Sertoli-Leydig cell tumor (SCLT), 10 adult-type granulosa cell tumor (AGCT), and 8 juvenile-type granulosa cell tumor (JGCT) were included in the study. SCTATs were characterized by diffuse and strong expression of SOX9, focal and weak expression of FOXL2, and the absence of DICER1 mutation. However, AGCTs and JGCTs displayed strong and diffuse expression of FOXL2, focal/no immunoreaction for SOX9. SLCTs generally showed moderate intensity of FOXL2 and SOX9 expression. Nuclear ß-catenin expression was observed in none of SLCT, 1/9 of SCTAT, 6/8 JGCT, and 4/10 AGCT cases, respectively. DICER1 hotspot mutation was detected in only 3 cases of SLCT and 2 cases of JGCT. We conclude that in addition to strong and diffuse SOX9 expression, weak/absent expression of FOXL2 is suggestive for the diagnosis of SCTAT. Hence, we suggest that inclusion of these two markers, SOX-9 and FOXL2, to the immunohistochemical panel helps in differentiation of SCTAT from other SCSTs in addition to morphologic findings. We also conclude that SCTATs of the ovary do not harbor DICER1 hotspot mutation.
Asunto(s)
Biomarcadores de Tumor , ARN Helicasas DEAD-box/genética , Proteína Forkhead Box L2/análisis , Mutación , Neoplasias Ováricas , Ribonucleasa III/genética , Factor de Transcripción SOX9/análisis , Tumores de los Cordones Sexuales y Estroma de las Gónadas , beta Catenina/análisis , Biomarcadores de Tumor/análisis , Biomarcadores de Tumor/genética , Estudios de Casos y Controles , Análisis Mutacional de ADN , Diagnóstico Diferencial , Femenino , Tumor de Células de la Granulosa/química , Tumor de Células de la Granulosa/genética , Tumor de Células de la Granulosa/patología , Humanos , Inmunohistoquímica , Neoplasias Ováricas/química , Neoplasias Ováricas/genética , Neoplasias Ováricas/patología , Valor Predictivo de las Pruebas , Tumor de Células de Sertoli-Leydig/química , Tumor de Células de Sertoli-Leydig/genética , Tumor de Células de Sertoli-Leydig/patología , Tumores de los Cordones Sexuales y Estroma de las Gónadas/química , Tumores de los Cordones Sexuales y Estroma de las Gónadas/genética , Tumores de los Cordones Sexuales y Estroma de las Gónadas/patologíaRESUMEN
Adult granulosa cell tumor (AGCT) and sex cord tumor with annular tubules (SCTAT) are distinct sex cord stromal tumors with different molecular signatures. We present a unique case of an incidental ovarian tumor with mixed AGCT and SCTAT morphologic patterns. Due to the unusual co-occurrence, molecular testing was separately performed on both components. Despite minimal overlap in morphology, both the SCTAT and AGCT components were found to have an identical mutation profile, including the prototypical FOXL2 p.C134W mutation characteristic of AGCT. We thus present the first report of AGCT with SCTAT-like pattern.
Asunto(s)
Tumor de Células de la Granulosa/diagnóstico , Neoplasias Complejas y Mixtas/diagnóstico , Neoplasias Ováricas/diagnóstico , Ovario/patología , Tumores de los Cordones Sexuales y Estroma de las Gónadas/diagnóstico , Análisis Mutacional de ADN , Femenino , Proteína Forkhead Box L2/genética , Tumor de Células de la Granulosa/genética , Tumor de Células de la Granulosa/patología , Humanos , Histerectomía , Persona de Mediana Edad , Mutación , Neoplasias Complejas y Mixtas/genética , Neoplasias Complejas y Mixtas/patología , Neoplasias Ováricas/genética , Neoplasias Ováricas/patología , Salpingooforectomía , Tumores de los Cordones Sexuales y Estroma de las Gónadas/genética , Tumores de los Cordones Sexuales y Estroma de las Gónadas/patologíaRESUMEN
Sex cord tumor with annular tubules (SCTAT) is a rare special type of ovarian sex cord-stromal tumor, which has not achieved a standard treatment regimen currently. The aim of this report was to provide possible reference for treatment and supervision of recurrent advanced malignant SCTAT. A 33-year-old unmarried female with malignant SCTAT emerged recurrence after the cytoreductive surgery but preserved fertility and postoperative chemotherapy (3 cycles PEB regimens) 12 months. She was performed preoperative adjuvant chemotherapy (3 cycles, paclitaxel liposome and nedaplatin) before the third operation of secondary cytoreductive surgery, followed by platinum-based chemotherapy (7 cycles, TC regimens) timely because of dissatisfactory efficacy under the evaluation in combination with prior comprehensive treatment and PET/CT. The surgical stage was IIIB. She acquired complete remission after therapy and needed to regularly follow up every 3-6 months for 2 years and every 6-12 months after 2 years. There was no evidence of malignant SCTAT recurrence at the follow-up 24 months past the third surgery. No abnormality was found in other examination indexes, and menstruation was regular. The regular supervision of the patient was continually performed. The diagnosis of recurrent advanced malignant SCTAT was established on history and final pathology examination, whose prognosis mainly depended on the appropriate strategy of surgery and chemotherapy regimens. The classical TC regimens could be considered if the efficacy of other chemotherapy regimens were unsatisfactory. Regular follow-up was essential.
RESUMEN
BACKGROUND: Sex cord tumors with annular tubules (SCTAT) are a rare (2%) subtype of ovarian sex cord-stromal tumor. SCTATs are usually cured at time of diagnosis by surgical resection with an oophorectomy. SCTATs have a 100%(disease related) five-year survival. One third of SCTAT tumors are associated with Peutz-Jeghers syndrome. Literature review discovered only two published cases of extra-ovarian SCTAT. Due to the rarity there is no standard treatment for extraovarian SCTATs. CASE: A 39-year-old para-1 female with a symptomatic fibroid uterus, heavy menstrual bleeding, and a history of a uterine myomectomy, underwent an elective total abdominal hysterectomy. Intraoperative findings showed a 7.5â¯cm retroperitoneal mass adhered between the uterus and the right pelvic sidewall that on frozen section was found to be a degenerating leiomyoma. Final pathology demonstrated a 2â¯mm focus of incidental SCTAT adjacent to the serosal surface of the leiomyoma. The SCTAT was not associated with ectopic ovarian tissue or endometriosis. The patient's ovaries were normal on direct intraoperative examination, preoperative ultrasound and MRI. Six month postoperative surveillance ultrasound also demonstrated normal premenopausal ovaries. CONCLUSION: This is the first extraovarian SCTAT in the published literature arising from a leiomyoma. Our patient had no family history and displayed no syndromic features for Peutz-Jeghers Syndrome. Ultimately, she declined genetic testing. The lack of evidence of ovarian involvement on both imaging and on intraoperative examination made localization to either ovary impossible. The patient is currently being managed with surveillance since the morbidity associated with bilateral oophorectomy in the 4th decade of life exceeds the theoretical risk of SCTAT.
RESUMEN
Sex cord tumor with annular tubules (SCTAT) is a rare ovarian tumor with characteristic microscopic morphologic features. Diagnosis most often is based on examination of tissue specimens. Cytologic features of this tumor rarely have been described in the English literature. Herein, we report cytologic findings of cyst aspiration fluid in two cases of SCTAT, with cyto-histologic correlation.
Asunto(s)
Neoplasias Ováricas/patología , Tumores de los Cordones Sexuales y Estroma de las Gónadas/patología , Biopsia con Aguja Fina , Niño , Femenino , HumanosRESUMEN
Ovarian sex cord stromal tumor is a relatively rare subtype of ovarian neoplasms, consisting of only 8% of all primary ovarian neoplasms, among which sex cord tumor with annular tubules (SCTAT) accounts for only 6% of sex cord stromal tumors. The majority of patients with SCTAT are women at reproductive age. Roughly one-third of the patients have Peutz-Jeghers syndrome (PJS), and in cases without PJS, about 15%-20% SCTAT tend to be clinical malignant. Herein we report 3 cases of non-PJS associated ovarian SCTAT onset in childhood, among which, two cases had recurrence and metastasis. And we summarize the pathologic manifests and report our discovery of the pathologic difference between primary and recurrent/metastatic SCTAT in childhood.
RESUMEN
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.
RESUMEN
Peutz-Jeghers syndrome (PJS), in most cases, is attributed to mutation in STK11/LKB1 and is clinically characterized by gastrointestinal hamartomatous polyposis, mucocutaneous pigmentation, and predisposition to certain neoplasms. There are currently no recommended gynecologic screening or clinical surveillance guidelines beyond those recommended for the general population; however, cervical cytology samples must be examined with a high level of suspicion for cervical adenocarcinoma. It is considered prudent to note the established association with PJS and recommend referral for genetic counseling. Complete surgical excision after a diagnosis of atypical lobular endocervical glandular hyperplasia is recommended.