RESUMEN
OBJECTIVE: Sertoli-Leydig cell tumors (SLCTs) are rare sex cord-stromal tumors, representing <0.5% of all ovarian tumors. We sought to describe prognostic factors, treatment and outcomes for individuals with ovarian SLCT. METHODS: Individuals with SLCT were enrolled in the International Pleuropulmonary Blastoma/DICER1 Registry and/or the International Ovarian and Testicular Stromal Tumor Registry. Medical records were systematically abstracted, and pathology was centrally reviewed when available. RESULTS: In total, 191 participants with ovarian SLCT enrolled, with most (92%, 175/191) presenting with FIGO stage I disease. Germline DICER1 results were available for 156 patients; of these 58% had a pathogenic or likely pathogenic germline variant. Somatic (tumor) DICER1 testing showed RNase IIIb hotspot variants in 97% (88/91) of intermediately and poorly differentiated tumors. Adjuvant chemotherapy was administered in 40% (77/191) of cases, and among these, nearly all patients received platinum-based regimens (95%, 73/77), and 30% (23/77) received regimens that included an alkylating agent. Three-year recurrence-free survival for patients with stage IA tumors was 93.6% (95% CI: 88.2-99.3%) compared to 67.1% (95% CI: 55.2-81.6%) for all stage IC and 60.6% (95% CI: 40.3-91.0%) for stage II-IV (p < .001) tumors. Among patients with FIGO stage I tumors, those with mesenchymal heterologous elements treated with surgery alone were at higher risk for recurrence (HR: 74.18, 95% CI: 17.99-305.85). CONCLUSION: Most individuals with SLCT fare well, though specific risk factors such as mesenchymal heterologous elements are associated with poor prognosis. We also highlight the role of DICER1 surveillance in early detection of SLCT, facilitating stage IA resection.
Asunto(s)
ARN Helicasas DEAD-box , Neoplasias Ováricas , Blastoma Pulmonar , Sistema de Registros , Ribonucleasa III , Tumor de Células de Sertoli-Leydig , Humanos , Tumor de Células de Sertoli-Leydig/patología , Tumor de Células de Sertoli-Leydig/cirugía , Femenino , Neoplasias Ováricas/patología , Neoplasias Ováricas/cirugía , ARN Helicasas DEAD-box/genética , Blastoma Pulmonar/patología , Adulto , Ribonucleasa III/genética , Persona de Mediana Edad , Adulto Joven , Anciano , Masculino , Adolescente , Quimioterapia Adyuvante , Tumores de los Cordones Sexuales y Estroma de las Gónadas/patología , Tumores de los Cordones Sexuales y Estroma de las Gónadas/cirugía , Tumores de los Cordones Sexuales y Estroma de las Gónadas/diagnóstico , Neoplasias Testiculares/patología , Neoplasias Testiculares/cirugía , Neoplasias Pulmonares/patología , Neoplasias Pulmonares/cirugíaRESUMEN
Sertoli-Leydig cell tumors (SLCT) are rare tumors of the ovary with a peak incidence in the second to third decade of life. Serous borderline tumors (SBT) are epithelial ovarian neoplasms which occur at a median age of 50 years. A co-occurrence of SLCT and SBT has not yet been reported. Here, we describe a case of a 16-year-old girl who presented with irregular menses, virilization, and an abdominopelvic mass. The mass was surgically removed and an intraoperative consultation revealed an 18.5 cm solid and cystic ovarian mass with the presence of co-existing SLCT and SBT. The diagnosis was confirmed on permanent sections after extensive sampling and immunohistochemical stains. The SLCT showed positive staining for calretinin, inhibin, CD99, and androgen receptor. MART-1 immunostain highlighted the Leydig cells. The SBT showed classic features including hierarchically branching papillae lined by stratified serous epithelium. This pediatric case is the first reported case of a Sertoli-Leydig cell tumor arising in association with a serous borderline tumor.
Asunto(s)
Cistadenoma Seroso , Neoplasias Ováricas , Lesiones Precancerosas , Tumor de Células de Sertoli-Leydig , Tumores de los Cordones Sexuales y Estroma de las Gónadas , Masculino , Femenino , Humanos , Niño , Persona de Mediana Edad , Adolescente , Tumor de Células de Sertoli-Leydig/diagnóstico , Tumor de Células de Sertoli-Leydig/cirugía , Tumor de Células de Sertoli-Leydig/patología , Neoplasias Ováricas/patologíaRESUMEN
Sertoli-Leydig cell tumours (SLCTs) represent a rare cause of hyperandrogenic state. SLCTs are sex cord ovarian neoplasms, accounting for <0.2% of all ovarian tumours. Most of the sex cord-stromal tumours have a benign clinical course, with 10%-20% of them at risk of aggressive course. We report a case of a woman in her 30s who presented with androgenic alopecia, virilisation and secondary amenorrhoea. The evaluation revealed an extremely high testosterone level. Imaging for the localisation of source of excess testosterone with contrast-enhanced CT of the abdomen revealed a right ovarian mass. Hence, a diagnosis of testosterone-secreting ovarian tumour was considered. The patient underwent right salphingo-oophorectomy, and histopathology was reported as Sertoli cell tumour. Postoperatively, there was normalisation of serum testosterone levels with decrease in virilisation and resumption of spontaneous menstrual cycles. The patient conceived spontaneously after 2 months of surgery.
Asunto(s)
Neoplasias Ováricas , Tumor de Células de Sertoli-Leydig , Tumores de los Cordones Sexuales y Estroma de las Gónadas , Alopecia/complicaciones , Femenino , Humanos , Células Intersticiales del Testículo/patología , Masculino , Neoplasias Ováricas/complicaciones , Neoplasias Ováricas/diagnóstico , Neoplasias Ováricas/cirugía , Tumor de Células de Sertoli-Leydig/complicaciones , Tumor de Células de Sertoli-Leydig/diagnóstico , Tumor de Células de Sertoli-Leydig/cirugía , 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/cirugía , Testosterona , Virilismo/complicacionesRESUMEN
INTRODUCTION: Because of limited information of Sertoli-Leydig cell tumors (SLCTs), the objective aimed to describe clinical parameters, management and treatment results of SLCTs. MATERIAL AND METHODS: We retrospectively reviewed 15 cases with SLCTs, who were treated in the Affiliated Hospital of Qingdao University between 2009 and 2020. Data of clinical parameters and treatment was studied. RESULTS: The age ranged 25-69 years. Elevated testosterone was observed in 4 patients. FIGO-stage: 14 were at Ia(10 moderately differentiated, 3 poorly differentiated, 5 retiform pattern).1 was at Ic. Patients with retiform pattern were more likely to exhibit endocrine function (p = 0.019, w = 0.61) and tumor diameter was significantly bigger in no endocrine function (p = 0.012, d = 1.52). All patients received surgical treatment. 8 received postoperative chemotherapy. The median follow-up was 66 months (20-112 months). 1 patient relapsed within 36 months and received cytoreductive surgery. She survived without disease after recurrence treatment. Of 5 patients who performed fertility sparing surgeries with the desire of childbirth, 3 had full-term pregnancy and 1 experienced a miscarriage. Another one has not tried to conceive. CONCLUSION: The prognosis of SLCTs is good. Our data showed patients with retiform pattern were more likely to exhibit endocrine function. The diameter of tumor was significantly bigger in no endocrine function. Conservative surgery is the preferred option for patients with the desire of fertility at stage Ia. Postoperative chemotherapy is advised to cases with high-risk factors, but the most effective chemotherapy regimen is still uncertain.
Asunto(s)
Protocolos de Quimioterapia Combinada Antineoplásica/uso terapéutico , Quimioterapia Adyuvante , Recurrencia Local de Neoplasia/epidemiología , Neoplasias Ováricas/cirugía , Salpingooforectomía , Tumor de Células de Sertoli-Leydig/cirugía , Adulto , Anciano , Supervivencia sin Enfermedad , Femenino , Preservación de la Fertilidad , Humanos , Persona de Mediana Edad , Clasificación del Tumor , Estadificación de Neoplasias , Tratamientos Conservadores del Órgano , Neoplasias Ováricas/sangre , Neoplasias Ováricas/patología , Estudios Retrospectivos , Tumor de Células de Sertoli-Leydig/sangre , Tumor de Células de Sertoli-Leydig/patología , Testosterona/sangreRESUMEN
OBJECTIVE: To synthesize the evidence on Sertoli-Leydig cell tumour (SLCT) relapses, and identify the clinicopathological characteristics and prognosis of patients with recurrent SLCT. METHODS: A literature search was undertaken of all published cases of SLCT relapse found in PubMed, Embase and Web of Science databases between January 1998 and January 2021. All articles in English reporting at least one case of SLCT relapse and mentioning the relapse location or the follow-up data were included. All reported data on relapsed cases were extracted. Student's t-test and Chi-squared test were used for the descriptive analysis, and the Kaplan-Meier statistical method was applied for survival analysis. RESULTS: Eighty-five patients from 33 articles were included in this review. The median age was 20 years (range 3-76 years) with a median time to relapse of 14 months (range 1-168 months). Forty-eight percent (36/75) of relapses were local and 52% (39/75) were distant. In the subgroup of conservative primary surgery, contralateral ovarian SLCT events (metachronous or recurrent) were more frequent in the paediatric population than in the adult population (58.3 vs 18.2%; p = 0.005). Eleven cases had multiple relapses. Twenty-one percent (12/57) of cases were treated with conservative surgery after recurrence, and 64.9% (37/57) of cases were treated with radical surgery which tends to have a better 2-year survival rate (78.5% vs 61.0%; p = 0.177). Overall median survival was 48 months after recurrence (95% confidence interval ±21.0 months) with overall 5-year survival of 38.9%. The mean survival time was significantly higher for patients diagnosed at an early stage (I and II) compared with patients diagnosed at an advanced stage (p = 0.003). DISCUSSION: The results showed that SLCT relapses have a poor prognosis and occur mainly in young patients, soon after the initial diagnosis. The majority of SLCT relapses are located in the abdominopelvic region. Contralateral ovarian SLCT events (metachronous or recurrent) occurred more frequently in paediatric cases. Multi-modal treatment with surgery and chemotherapy appears to be the best approach. The best chemotherapeutic regimen has yet to be defined.
Asunto(s)
Neoplasias Ováricas , Tumor de Células de Sertoli-Leydig , Adulto , Niño , Preescolar , Femenino , Humanos , Lactante , Masculino , Recurrencia Local de Neoplasia , Neoplasias Ováricas/cirugía , Pronóstico , Tumor de Células de Sertoli-Leydig/cirugíaRESUMEN
INTRODUCCIÓN: Los tumores de células de Sertoli-Leydig son neoplasias de ovario infrecuentes, lo que dificulta su diagnóstico y tratamiento. OBJETIVO: Revisar y sintetizar el manejo actual de los tumores de células de Sertoli-Leydig. MÉTODO: Se realizó una revisión de la literatura reciente sobre tumores de células de Sertoli-Leydig, a propósito de un caso en nuestro centro. RESULTADOS: Los tumores de las células de Sertoli-Leydig son infrecuentes, con mayor incidencia en edades tempranas. Ante una paciente joven con una lesión anexial unilateral y signos de virilización deberán considerarse estos tumores dentro del diagnóstico diferencial. En los estadios iniciales y en pacientes jóvenes podrá plantearse un tratamiento quirúrgico que preserve la fertilidad, y la asociación de tratamiento adyuvante dependerá de la diferenciación y del estadiaje del tumor.
INTRODUCTION: Sertoli-Leydig cell tumors are infrequent ovarian neoplasms, which difficults their diagnosis and treatment. Objective: To review and synthesize the current management of the Sertoli-Leydig cell tumor. METHOD: A review of the recent literature regarding the Sertoli-Leydig cell tumor was carried out, regarding a case in our center. RESULTS: Sertoli-Leydig cell tumors are an infrequent entity, with a higher incidence in early ages. In a young patient with a unilateral adnexal lesion and signs of virilization, these tumors should be considered within the differential diagnosis. In early stages and young patients, a surgical treatment that preserves fertility may be considered, and the association of adjuvant treatment will depend on the differentiation and staging of the tumor.
Asunto(s)
Humanos , Femenino , Adulto , Neoplasias Ováricas/cirugía , Neoplasias Ováricas/diagnóstico por imagen , Tumor de Células de Sertoli-Leydig/cirugía , Tumor de Células de Sertoli-Leydig/diagnóstico por imagenRESUMEN
RATIONAL: Ovarian sertoli-leydig cell tumor (OSLCT) is extremely rare. We reported a OSLCT case in whom postmenopausal vaginal bleeding was the first symptom. PATIENT CONCERNS: The patient came to our hospital due to postmenopausal vaginal bleeding. DIAGNOSES: Serum tumor markers and color Doppler ultrasound for her pelvic cavity were negative. The patient was finally diagnosed with left OSLCT by pathology. It was difficult to make a definite diagnosis before operation, the diagnosis of OSLCT required postoperative pathology in the patients. INTERVENTIONS: the patient underwent laparoscopic hysterectomy+bilateral adnexectomy+lysis of pelvic adhesions. OUTCOMES: Postoperative laboratory examinations were normal. The patient was discharged from our hospital on the seventh day after operation and came to our hospital for follow-up check in April 2020. Physical and laboratory examinations were normal. LESSONS: OSLCT can show different endocrine abnormalities, which are related to the various types of tumor tissues. Missed diagnosis and misdiagnosis are likely to occur in the patients who only have elevated serum testosterone. For the menopausal women with elevated serum testosterone, ovarian tumor shoule be highly suspected after excluding adrenal gland-related diseases.
Asunto(s)
Neoplasias Ováricas/complicaciones , Tumor de Células de Sertoli-Leydig/complicaciones , Hemorragia Uterina/etiología , Femenino , Humanos , Histerectomía , Persona de Mediana Edad , Neoplasias Ováricas/cirugía , Posmenopausia , Tumor de Células de Sertoli-Leydig/cirugía , Hemorragia Uterina/cirugíaRESUMEN
OBJETIVOS: La orquiectomía ha sido la técnica quirúrgica clásicamente más empleada en tumores testiculares (TT). Sin embargo, en función del tamaño del tumor, marcadores tumorales e histología, se puede considerar la tumorectomía como técnica de elección, ya que en su mayoría se trata de tumores benignos. Presentamos nuestra experiencia en cirugía conservadora. MATERIAL Y MÉTODOS: Estudio retrospectivo de 21 casos de TT en 19 pacientes menores de 14 años, tratados en nuestro centro entre 1998-2018. Analizamos las siguientes variables: edad, lateralidad, tipo histológico, evolución, existencia o no de recidivas, seguimiento ecográfico y analítico. Revisamos la actitud terapéutica empleada, con énfasis en la posibilidad de preservación testicular en pacientes seleccionados. RESULTADOS: Se realizó cirugía conservadora en nueve casos de TT tratados que correspondían a siete pacientes (dos bilaterales). La edad media de presentación fue de seis años (0-13 años). El 86% de los casos debutaron como masa escrotal asintomática. No existieron diferencias significativas en cuanto a lateralidad. Los marcadores tumorales fueron negativos antes y después de la intervención, salvo en un lactante con alfafetoproteína elevada, normalizada en el posoperatorio. El estudio histológico diagnostica 7TT estromales (tres de células de Leydig y uno bilateral de células de Sertoli, un hamartoma y un fibroma) y 2TT de células germinales (quiste epidermoide bilateral). Evolución favorable en todos ellos, sin recidivas clínicas ni ecográficas. CONCLUSIONES: La cirugía conservadora del parénquima testicular, mediante tumorectomía, puede ser la primera opción terapéutica en tumores benignos y en pacientes seleccionados con tumores bilaterales, con el objetivo de preservar la función hormonal y reproductora futura
OBJECTIVES: Orchiectomy is the most widely used surgical technique in testicular tumors (TT). However, according to tumor size, tumor markers, and histology, tumorectomy can be considered as the technique of choice, since these tumors are mostly benign. We present our experience with conservative surgery. MATERIALS AND METHODS: A retrospective study of 21 TT cases in 19 patients under 14 years of age treated in our healthcare facility from 1998 to 2018 was carried out. The following variables were analyzed: age, laterality, histological type, evolution, presence or absence of recurrence, and ultrasound and analytical follow-up. The therapeutic attitude used was reviewed while assessing the possibility of testicular preservation in selected patients. RESULTS: Conservative surgery was performed in 9 TT cases in 7 patients (2 bilateral cases). Mean age was 6 years (0-13 years). 86% of cases started as an asymptomatic scrotal mass. No significant differences were found in terms of laterality. Tumor markers were negative before and after surgery, except in an infant with high alpha-fetoprotein, which was normalized in the postoperative period. The histological study diagnosed 7 stromal TTs (three Leydig cell stromal TTs, one bilateral Sertoli cell stromal TT, one hamartoma, and one fibroma) and 2 germ cell TTs (bilateral epidermoid cyst). Evolution was favorable in all cases, without clinical or ultrasound recurrence. CONCLUSIONS: Conservative surgery of the testicular parenchyma using tumorectomy can be the first therapeutic option in benign tumors and in selected patients with bilateral tumor, since it allows future hormonal and reproductive function to be preserved
Asunto(s)
Humanos , Masculino , Lactante , Preescolar , Niño , Adolescente , Tratamientos Conservadores del Órgano/métodos , Neoplasias Testiculares/cirugía , Orquiectomía/métodos , Tejido Parenquimatoso/patología , Estudios Retrospectivos , Teratoma/cirugía , Tumor de Células de Sertoli-Leydig/cirugía , Neoplasias Testiculares/patologíaRESUMEN
Sertoli-Leydig cell tumor of the ovary is an unusual neoplasm that belongs to a group of sex cord-stromal tumors of the ovary and accounts for less than 0.5% of all primary ovarian neoplasms. They are often characterized by the presence of mass with androgen production and signs of virilization. Due to the substantially low incidence of Sertoli-Leydig cell tumors, information on clinical behavior, prognostic factors, and optimal management arelimited. Here in, we report a case of aprimary ovarian Sertoli-Leydig cell tumor in a 21-year-old student, previously diagnosed to have polycystic ovarian syndrome and subsequently congenital adrenal hyperplasia, who presented with a large abdominal mass and features of virilization along with elevated serum testosterone levels. Fertility sparing unilateral salpingo-oophorectomy was done and adjuvant chemotherapy was given after histopathology showed moderate to poorly differentiated Sertoli-Leydig cell tumor. Following surgery, her features of hyperandrogenism resolved and serum testosterone levels returned to normal.
Asunto(s)
Hiperplasia Suprarrenal Congénita , Neoplasias Ováricas , Síndrome del Ovario Poliquístico , Tumor de Células de Sertoli-Leydig , Tumores de los Cordones Sexuales y Estroma de las Gónadas , Adulto , Errores Diagnósticos , Femenino , Humanos , Masculino , Neoplasias Ováricas/diagnóstico , Síndrome del Ovario Poliquístico/complicaciones , Síndrome del Ovario Poliquístico/diagnóstico , Tumor de Células de Sertoli-Leydig/diagnóstico , Tumor de Células de Sertoli-Leydig/cirugía , Tumores de los Cordones Sexuales y Estroma de las Gónadas/diagnóstico , Tumores de los Cordones Sexuales y Estroma de las Gónadas/cirugía , Adulto JovenRESUMEN
The aim of this study is to review the natural course, clinical features, and reproductive prognosis of ovarian tumors associated with hyperandrogenemia. We retrospect 33 patients of ovarian tumors with hyperandrogenemia. Thirty cases (91%) were sex cord-stromal tumors. Sertoli-Leydig cell tumors, Leydig cell tumors, and steroid cell tumors were the most common types. It is not possible, to predict the pathological subtypes based on androgen levels alone. Most of these tumors were solid masses, with an average diameter of 3.9 cm. These tumors are soft or fragile, no clear boundary with normal tissue, thus excision is superior to exfoliation. The average disease course of the top three tumors was 32.6, 35.4, and 67.7 months, respectively. Among 11 married women with a desire to get pregnant, nine cases resumed menstrual periods after surgery and became pregnant naturally. Hyperandrogenemia might predict a better prognosis. The asynchronism of hyperandrogenemia and undetectable tumor may cause irreversible change and emotional depress, the methods of early diagnosis need further study.
Asunto(s)
Hiperandrogenismo/complicaciones , Hiperandrogenismo/diagnóstico , Neoplasias Ováricas/complicaciones , Neoplasias Ováricas/diagnóstico , Tumores de los Cordones Sexuales y Estroma de las Gónadas/complicaciones , Tumores de los Cordones Sexuales y Estroma de las Gónadas/diagnóstico , Adolescente , Adulto , Anciano , Andrógenos/sangre , Biomarcadores de Tumor/análisis , Biomarcadores de Tumor/metabolismo , Niño , Preescolar , Progresión de la Enfermedad , Femenino , Preservación de la Fertilidad , Humanos , Hiperandrogenismo/patología , Hiperandrogenismo/cirugía , Persona de Mediana Edad , Neoplasias Ováricas/patología , Neoplasias Ováricas/cirugía , Pronóstico , Estudios Retrospectivos , Tumor de Células de Sertoli-Leydig/complicaciones , Tumor de Células de Sertoli-Leydig/diagnóstico , Tumor de Células de Sertoli-Leydig/patología , Tumor de Células de Sertoli-Leydig/cirugía , Tumores de los Cordones Sexuales y Estroma de las Gónadas/patología , Tumores de los Cordones Sexuales y Estroma de las Gónadas/cirugía , Carga Tumoral , Adulto JovenRESUMEN
Sertoli-Leydig cell tumors are a group of tumors composed of variable proportions of Sertoli cells, Leydig cells, and sometimes heterologous elements. We describe the case of a 68-yr-old woman who presented with abdominal distention. A computed tomographic scan revealed a large right adnexal mass without evidence of intrahepatic tumors, and a complete cytoreductive surgery was performed. Pathologic examination revealed a moderately differentiated Sertoli-Leydig cell tumor with various heterologous elements, including gastrointestinal-type glands, insular carcinoid, and aggregations of hepatocytes without significant cytologic atypia. Moreover, adjacent to these hepatocytes, extensive overgrowth of highly atypical hepatocyte-like cells, providing a striking morphologic similarity to hepatocellular carcinoma of the liver, was identified. Both the heterologous hepatocytes and hepatocellular carcinomatous tumor cells were immunohistochemically positive for alpha-fetoprotein, hepatocyte paraffin 1, and arginase-1. Some Sertoli cells adjacent to the heterologous hepatocytes were also positive for alpha-fetoprotein and hepatocyte paraffin 1. The present case showed that a tumor morphologically and immunohistochemically analogous to hepatocellular carcinoma of the liver can arise in the ovary, in association with Sertoli-Leydig cell tumors.
Asunto(s)
Antineoplásicos/uso terapéutico , Biomarcadores de Tumor/análisis , Carcinoma Hepatocelular/diagnóstico por imagen , Neoplasias Hepáticas/diagnóstico por imagen , Neoplasias Ováricas/diagnóstico por imagen , Tumor de Células de Sertoli-Leydig/diagnóstico por imagen , Anciano , Antígenos de Neoplasias/análisis , Arginasa/análisis , Carboplatino/uso terapéutico , Carcinoma Hepatocelular/tratamiento farmacológico , Carcinoma Hepatocelular/patología , Carcinoma Hepatocelular/cirugía , Femenino , Hepatocitos/patología , Humanos , Inmunohistoquímica , Neoplasias Hepáticas/tratamiento farmacológico , Neoplasias Hepáticas/patología , Neoplasias Hepáticas/cirugía , Neoplasias Ováricas/tratamiento farmacológico , Neoplasias Ováricas/patología , Neoplasias Ováricas/cirugía , Ovario/patología , Paclitaxel/uso terapéutico , Tumor de Células de Sertoli-Leydig/tratamiento farmacológico , Tumor de Células de Sertoli-Leydig/patología , Tumor de Células de Sertoli-Leydig/cirugía , Tomografía Computarizada por Rayos X , alfa-Fetoproteínas/análisisRESUMEN
BACKGROUND: The sex cord-stromal tumors are relative rare, comprising 5-8% of all ovarian neoplasms. METHODS: The study androgen tumors and a description of three cases: Leydig tumor, steroid cell (NOS) tumor and Sertoli-Leydig tumor. RESULTS: Twelve patients were menopausal and one patient of reproductive age. In all cases, regardless of the histological variety, women presented symptoms of hyperandrogenism and virilization. All had increased values of total testosterone. In all cases surgical treatment was performed, with favorable clinical and biochemical evolution. CONCLUSIONS: Sex cord stromal tumors of the ovary are rare, and can be characterized by virilization for most patients. The majority of the tumors are benign, with few cases having low-grade malignancy. The suspicion and correct evaluation of these women will lead to an early diagnosis and improve their quality of life.
Asunto(s)
Andrógenos/metabolismo , Hiperandrogenismo/etiología , Neoplasias Ováricas/diagnóstico , Tumores de los Cordones Sexuales y Estroma de las Gónadas/diagnóstico , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Femenino , Humanos , Tumor de Células de Leydig/diagnóstico , Tumor de Células de Leydig/patología , Tumor de Células de Leydig/cirugía , Persona de Mediana Edad , Neoplasias Ováricas/patología , Neoplasias Ováricas/cirugía , Calidad de Vida , Estudios Retrospectivos , Tumor de Células de Sertoli-Leydig/diagnóstico , Tumor de Células de Sertoli-Leydig/patología , Tumor de Células de Sertoli-Leydig/cirugía , Tumores de los Cordones Sexuales y Estroma de las Gónadas/patología , Tumores de los Cordones Sexuales y Estroma de las Gónadas/cirugía , Testosterona/sangre , Virilismo/etiologíaRESUMEN
Germ line DICER1 mutations predispose to a syndrome associated with increased risk of e.g. multinodular goitre (MNG), pleuropulmonary blastoma and Sertoli-Leydig cell tumour (SLCT). This is a case report about a family with a nonsense DICER1 mutation, c.988C>T, affecting six family members. The proband had once undergone a unilateral oophorectomy and a thyroidectomy due to SLCT and MNG, respectively. The proband has two children with the mutation but with no manifestations. Given this circumstance, we discuss the prospects of an implementation of screening programmes for children with predisposed cancerous syndromes.
Asunto(s)
ARN Helicasas DEAD-box/genética , Bocio Nodular/genética , Neoplasias Ováricas/genética , Ribonucleasa III/genética , Tumor de Células de Sertoli-Leydig/genética , Adulto , Preescolar , Femenino , Asesoramiento Genético , Predisposición Genética a la Enfermedad , Bocio Nodular/cirugía , Humanos , Lactante , Persona de Mediana Edad , Mutación , Neoplasias Ováricas/cirugía , Tumor de Células de Sertoli-Leydig/cirugíaRESUMEN
OBJECTIVE: To investigate the clinicopathologic prognostic factors in patients with malignant sex cord-stromal tumors (SCSTs) with lymph node dissection, and at the same time, to evaluate the influence of the log odds of positive lymph nodes (LODDS) on their survival. METHODS: Patients diagnosed with malignant SCSTs who underwent lymph node dissection were extracted from the 1988-2013 Surveillance, Epidemiology, and End Results (SEER) database. Overall survival (OS) and cancer-specific survival (CSS) were estimated by Kaplan-Meier curves. The Cox proportional hazards regression model was used to identify independent predictors of survival. RESULTS: 576 patients with malignant SCSTs and with lymphadenectomy were identified, including 468 (81.3%) patients with granulosa cell tumors (GCTs) and 80 (13.9%) patients with Sertoli-Leydig cell tumors (SLCTs). 399 (69.3%) patients and 118 (20.5%) patients were in the LODDS < -1 group and -1 ≤ LODDS < -0.5 group, respectively. The 10-year OS rate was 80.9% and CSS was 87.2% in the LODDS < -0.5 group, whereas the survival rates for other groups were 68.5% and 73.3%. On multivariate analysis, age 50 years or less (p < 0.001), tumor size of 10 cm or less (p < 0.001), early-stage disease (p < 0.001), and GCT histology (p ≤ 0.001) were the significant prognostic factors for improved survival. LODDS < -0.5 was associated with a favorable prognosis (OS: p = 0.051; CSS:P = 0.055). CONCLUSIONS: Younger age, smaller tumor size, early stage, and GCT histologic type are independent prognostic factors for improved survival in patients with malignant SCST with lymphadenectomy. Stratified LODDS could be regarded as an effective value to assess the lymph node status, and to predict the survival status of patients.
Asunto(s)
Tumor de Células de la Granulosa/patología , Ganglios Linfáticos/patología , Tumor de Células de Sertoli-Leydig/patología , Adolescente , Adulto , Factores de Edad , Anciano , Anciano de 80 o más Años , Causas de Muerte , Niño , Bases de Datos Factuales , Femenino , Tumor de Células de la Granulosa/mortalidad , Tumor de Células de la Granulosa/cirugía , Humanos , Estimación de Kaplan-Meier , Escisión del Ganglio Linfático , Persona de Mediana Edad , Análisis Multivariante , Estadificación de Neoplasias , Neoplasias Ováricas/mortalidad , Neoplasias Ováricas/patología , Neoplasias Ováricas/cirugía , Pronóstico , Modelos de Riesgos Proporcionales , Estudios Retrospectivos , Programa de VERF , Tumor de Células de Sertoli-Leydig/mortalidad , Tumor de Células de Sertoli-Leydig/cirugía , Tumores de los Cordones Sexuales y Estroma de las Gónadas/mortalidad , Tumores de los Cordones Sexuales y Estroma de las Gónadas/patología , Tumores de los Cordones Sexuales y Estroma de las Gónadas/cirugía , Tasa de Supervivencia , Carga Tumoral , Adulto JovenRESUMEN
OBJECTIVE: Familial multinodular goiter (MNG), with or without ovarian Sertoli-Leydig cell tumor (SLCT), has been linked to DICER1 syndrome. We aimed to search for the presence of a germline DICER1 mutation in a large family with a remarkable history of MNG and SLCT, and to further explore the relevance of the identified mutation. DESIGN AND METHODS: Sanger sequencing, Fluidigm Access Array and multiplex ligation-dependent probe amplification (MLPA) techniques were used to screen for DICER1 mutations in germline DNA from 16 family members. Where available, tumor DNA was also studied. mRNA and protein extracted from carriers' lymphocytes were used to characterize the expression of the mutant DICER1. RESULTS: Nine of 16 tested individuals carried a germline, in-frame DICER1 deletion (c.4207-41_5364+1034del), which resulted in the loss of exons 23 and 24 from the cDNA. The mutant transcript does not undergo nonsense-mediated decay and the protein is devoid of specific metal ion-binding amino acids (p.E1705 and p.D1709) in the RNase IIIb domain. In addition, characteristic somatic 'second hit' mutations in this region were found on the other allele in tumors. CONCLUSIONS: Patients with DICER1 syndrome usually present a combination of a typically truncating germline DICER1 mutation and a tumor-specific hotspot missense mutation within the sequence encoding the RNase IIIb domain. The in-frame deletion found in this family suggests that the germline absence of p.E1705 and p.D1709, which are crucial for RNase IIIb activity, may be enough to permit DICER1 syndrome to occur.
Asunto(s)
ARN Helicasas DEAD-box/genética , Bocio Nodular/genética , Ribonucleasa III/genética , Tumor de Células de Sertoli-Leydig/genética , Adolescente , Adulto , Anciano , Neoplasias de la Mama/genética , ADN/análisis , ADN/sangre , Femenino , Fibroadenoma/genética , Predisposición Genética a la Enfermedad , Mutación de Línea Germinal/genética , Bocio Nodular/cirugía , Humanos , Linfocitos/química , Masculino , Neoplasias Ováricas/genética , Neoplasias Ováricas/cirugía , Linaje , ARN Mensajero Almacenado/sangre , Análisis de Secuencia de ADN , Eliminación de Secuencia , Tumor de Células de Sertoli-Leydig/cirugía , SíndromeRESUMEN
Sex cord tumors of the testis in post pubertal men are rare. Mixed leydig-Sertoli-Granulosa sex cord tumors are exceptionally rare. To the best of our knowledge there are only three reported similar cases in the literature. We reported a case of a 27-year-old male who presented with huge left scrotal mass of 6-years duration. The gross tumor specimen after resection measured 11 cm in diameter. Histological examination revealed mixed sex cord stromal tumor. This case demonstrates the limited ability of accurate diagnostic determination preoperatively, with pathologic examination and immune-histochemical staining post-orchiectomy representing the only definitive means of diagnosis. It also highlights the unique radiological appearances of this tumor, which were not previously reported in literature.
Asunto(s)
Orquiectomía/métodos , Tumor de Células de Sertoli-Leydig/diagnóstico , Tumores de los Cordones Sexuales y Estroma de las Gónadas/diagnóstico , Neoplasias Testiculares/diagnóstico , Adulto , Humanos , Masculino , Tumor de Células de Sertoli-Leydig/patología , Tumor de Células de Sertoli-Leydig/cirugía , Tumores de los Cordones Sexuales y Estroma de las Gónadas/patología , Tumores de los Cordones Sexuales y Estroma de las Gónadas/cirugía , Neoplasias Testiculares/patología , Neoplasias Testiculares/cirugíaRESUMEN
BACKGROUND: Ovarian tumors, although uncommon in children, can retain endocrine function that disrupts normal feedback mechanisms leading to amenorrhea. Inheritance of germline DICER1 mutations can lead to increased risk for development of ovarian Sertoli-Leydig cell tumors (SLCTs). CASE: We report, to our knowledge, the first case of secondary amenorrhea due to elevated inhibin B levels in a female adolescent with an ovarian SLCT. SUMMARY AND CONCLUSION: Ovarian tumors should be included in the differential diagnosis for pediatric patients who present with menstrual irregularities. Early evaluation of the hypothalamic-pituitary-ovarian axis and inhibin levels is appropriate. Our case also emphasizes the need for testing for DICER1 mutations in pediatric patients with ovarian SLCTs.
Asunto(s)
Amenorrea/etiología , ARN Helicasas DEAD-box/genética , Inhibinas/sangre , Neoplasias Ováricas/patología , Ribonucleasa III/genética , Tumor de Células de Sertoli-Leydig/complicaciones , Adolescente , Diagnóstico Diferencial , Femenino , Humanos , Mutación , Neoplasias Ováricas/complicaciones , Neoplasias Ováricas/genética , Tumor de Células de Sertoli-Leydig/genética , Tumor de Células de Sertoli-Leydig/cirugíaRESUMEN
OBJECTIVE: To systematically review the existing literature to analyze the impact of previously identified pathologic risk factors on harboring occult metastatic disease (OMD) in patients with Clinical Stage I testicular stromal tumors (TSTs). MATERIALS AND METHODS: A literature search using PubMed was conducted using the following terms: "testicular stromal tumors," "testicular Leydig cell tumors," "testicular Sertoli tumors," "testicular interstitial tumors," "testicular granulosa tumor," and "testicular sex cord tumors." For analysis, we included only studies with data on available recurrence, survival, and time-to-event. We hypothesized that patients with ≥2 risk factors would experience lower 5-year OMD-free survival (OMDFS) than those with <2 risk factors. RESULTS: Two hundred ninety-two patients from 47 publications were included with a median age at diagnosis of 35 years (range 12-76). Five-year OMDFS and overall survival in patients with Stage I TSTs were 91.2% and 93.2%, respectively. When comparing those who harbored OMD to those who did not, we observed an increased risk of OMD for each additional risk factor (P < .001). Five-year OMDFS was 98.1% for those with <2 risk factors vs 44.9% for those with ≥2 risk factors (P < .001). CONCLUSION: The existing literature on pathologic risk factors for OMD in this population is insufficient to make broad clinical recommendations. However, these factors appear to risk-stratify patients and may be useful for future research investigating adjuvant therapy in higher-risk patients. This review indicates that such a stratification system has a rational basis.