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1.
J Fish Dis ; 44(3): 273-285, 2021 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-33098685

RESUMO

Reports on abdominal tumours in koi carp are scarce and most are from the gonads. Their histological diagnosis is challenging due to the occurrence of mixed populations of neoplastic cells and the few availability of cross-reactive antibodies in fish tissues. The present study aims to provide a histopathological characterization of seventeen gonadal tumours, enriched by a wide antibody panel (vimentin, CD117, placental alkaline phosphatase-PLAP, AE1/AE3 cytokeratin, E-cadherin, proliferating cell nuclear antigen-PCNA, müllerian-inhibiting substance-MIS, GATA4 and Inhibin-α) applied on whole and tissue microarray (TMA) sections. Abdominal enlargement was associated with tumours filling 30%-80% of the abdominal cavity; frequently, the gonads had been completely replaced by neoplastic tissue. Twelve cases were characterized as sex cord-stromal tumours (SCSTs), three as germ cell tumours (GCTs), one as mixed germ cell sex cord-stromal tumour (MGCSCST) and one as carcinoma. By immunohistochemistry, PLAP enabled confirmation of GCTs, ovarian carcinoma and the objective identification of a further cell component in 8 out of the 12 SCSTs that were reclassified as mixed tumours. The use of an immunohistochemical panel can help in refining the histological diagnosis, but the morphological diagnosis still represents the main tool for the characterization of these tumours in koi carp.


Assuntos
Carpas , Doenças dos Peixes/diagnóstico , Neoplasias de Tecido Gonadal/veterinária , Animais , Feminino , Doenças dos Peixes/patologia , Imuno-Histoquímica , Masculino , Neoplasias de Tecido Gonadal/diagnóstico , Neoplasias de Tecido Gonadal/patologia
2.
Urology ; 137: 157-160, 2020 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-31883875

RESUMO

OBJECTIVE: To describe the gonadal features of patients with 45,X/46,XY mosaicism, and to evaluate the prevalence of gonadal tumor in different phenotypes. MATERIALS AND METHODS: The medical records of consecutive patients with 45,X/46,XY karyotype or its variants who had undergone gonadal biopsy or gonadectomy at a single institute between 1996 and 2017 were retrospectively reviewed. RESULTS: Of 34 patients with 45,X/46,XY mosaicism, a unilateral dysgenetic testis and a contralateral streak gonad was detected in 20 patients (59%), bilateral streak gonads in 9 (26%), and bilateral dysgenetic testes in 5 (15%). A gonad composed of both streak and dysgenetic testicular portions was observed in 7 gonads of 6 patients. All streak gonads were removed, and bilateral gonadectomy was performed in 15 patients raised as girls. Pathologic examination revealed gonadal tumors in 6 of the 34 (18%) patients, including a gonadoblastoma in 7 gonads among 5 patients and an association of dysgerminoma with gonadoblastoma in 1 gonad. All 6 patients who developed gonadal tumor had female genitalia. Postoperative course was uneventful except 1 boy. A seminoma was developed in his soritaly scrotal testis at the age of 16 years. CONCLUSION: The prevalence of gonadal tumor in patients with 45,X/46,XY mosaicism may vary according to the phenotype, and high in patients with female phenotype. Considering the increased risk of gonadal tumors in such patients, early investigation and individual management, including prophylactic gonadectomy, are recommended. In male patients, a close follow-up of the preserved testes is mandatory until adulthood.


Assuntos
Castração , Disgenesia Gonadal 46 XY , Gonadoblastoma , Recidiva Local de Neoplasia , Neoplasias Ovarianas , Complicações Pós-Operatórias , Neoplasias Testiculares , Síndrome de Turner , Adolescente , Biópsia/métodos , Castração/efeitos adversos , Castração/métodos , Pré-Escolar , Correlação de Dados , Feminino , Disgenesia Gonadal 46 XY/genética , Disgenesia Gonadal 46 XY/patologia , Gonadoblastoma/genética , Gonadoblastoma/patologia , Gonadoblastoma/cirurgia , Humanos , Recém-Nascido , Masculino , Mosaicismo , Recidiva Local de Neoplasia/diagnóstico , Recidiva Local de Neoplasia/patologia , Neoplasias de Tecido Gonadal/genética , Neoplasias de Tecido Gonadal/patologia , Neoplasias de Tecido Gonadal/cirurgia , Neoplasias Ovarianas/genética , Neoplasias Ovarianas/patologia , Neoplasias Ovarianas/cirurgia , Complicações Pós-Operatórias/diagnóstico , Complicações Pós-Operatórias/patologia , Prevalência , Neoplasias Testiculares/genética , Neoplasias Testiculares/patologia , Neoplasias Testiculares/cirurgia , Síndrome de Turner/genética , Síndrome de Turner/patologia
3.
Urology ; 137: 161-163, 2020 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-31770547

RESUMO

Rhabdomyosarcoma (RMS) is a rare malignancy that can develop in nearly any soft-tissue of the body. Location of the primary tumor affects treatment strategy and prognosis, and RMS of the perineal areas can be especially difficult to treat successfully. RMS is treated systemically with chemotherapy. Local control options include surgical excision, radiation treatment, or a combination of the 2. Treating RMS with radiation treatment can be challenging due to the absence of standardized dosage protocols, along with the presence of conflicting recommendations in the literature. Each case of perineal RMS may benefit from a more individualized treatment plan.


Assuntos
Protocolos de Quimioterapia Combinada Antineoplásica/administração & dosagem , Linfonodos/patologia , Metástase Linfática , Neoplasias de Tecido Gonadal , Períneo/patologia , Terapia com Prótons/métodos , Rabdomiossarcoma Alveolar , Adolescente , Exame de Medula Óssea/métodos , Virilha , Humanos , Metástase Linfática/tratamento farmacológico , Metástase Linfática/radioterapia , Imageamento por Ressonância Magnética/métodos , Masculino , Neoplasias de Tecido Gonadal/tratamento farmacológico , Neoplasias de Tecido Gonadal/patologia , Neoplasias de Tecido Gonadal/radioterapia , Tomografia por Emissão de Pósitrons combinada à Tomografia Computadorizada/métodos , Rabdomiossarcoma Alveolar/tratamento farmacológico , Rabdomiossarcoma Alveolar/patologia , Rabdomiossarcoma Alveolar/radioterapia , Resultado do Tratamento
4.
BMC Cancer ; 19(1): 408, 2019 Apr 30.
Artigo em Inglês | MEDLINE | ID: mdl-31039746

RESUMO

BACKGROUND: A tumor comprising of different types of tissues (such as hair, muscle, bone, etc.) is known as a teratoma. It is a type of germ cell (cells that make sperm or eggs) tumor. When these germ cells have rapid cancerous growth, then such a teratoma is called a malignant teratoma. We have studied the differences between gonadal and extra-gonadal malignant teratomas and the effects of chemotherapy in both genders. METHODS: The samples of 3799 male and 1832 female patients with malignant teratoma samples, between the ages of 1 and 85+ years, were selected from the years 1973 to 2014. Trends in incidence, estimated prevalence, incidence rates, and frequency were calculated in gonadal and extra-gonadal tumors with age adjustment. The five-year observed, expected, and relative survival rates were analyzed to study the prognosis. RESULTS: The gonadal took over a majority percentage of malignant teratomas compared with the extra-gonadal (90% vs. 10% in male; 83% vs. 17% in female). For the male, the total of the gonadal and the extra-gonadal were all significantly decreased from 1973 to 2014 (p < 0.05). For the female, there were no significant trends. As for prevalence, incidence, and frequency, there were two separate peaks of malignant teratomas. One peak was at under 1 year old, which was composed of the extra-gonadal tumor; the other peak was at 20-24 for male and 10-34 for female, which was composed of the gonadal tumor. This separation of the gonadal and extra-gonadal showed a significant difference (p < 0.05). As for the prognosis, the extra-gonadal tumor showed significantly lower survival rates than the gonadal (p < 0.05). In the short term, the survival rate of the chemotherapy group was higher than the supportive care group. However, in the long term, the survival rate of the chemotherapy group was lower than the supportive care group. CONCLUSION: The gonadal and extra-gonadal malignant teratomas show lots of differences. Chemotherapy might not help improve survival rates.


Assuntos
Antineoplásicos/uso terapêutico , Neoplasias de Tecido Gonadal/tratamento farmacológico , Neoplasias de Tecido Gonadal/epidemiologia , Teratoma/tratamento farmacológico , Teratoma/epidemiologia , Adolescente , Adulto , Distribuição por Idade , Idoso , Idoso de 80 Anos ou mais , Criança , Pré-Escolar , Feminino , Humanos , Incidência , Lactente , Masculino , Pessoa de Meia-Idade , Neoplasias de Tecido Gonadal/mortalidade , Prevalência , Prognóstico , Programa de SEER , Análise de Sobrevida , Teratoma/mortalidade , Resultado do Tratamento , Adulto Jovem
5.
Fertil Steril ; 111(6): 1226-1235.e1, 2019 06.
Artigo em Inglês | MEDLINE | ID: mdl-30922653

RESUMO

OBJECTIVE: To identify the genetic cause of a pedigree with four patients with 46,XY pure gonadal dysgenesis (PGD). DESIGN: Genetic mutation study. SETTING: Academic medical center. PATIENT(S): Four first cousins, from three households of a Chinese pedigree, affected by 46,XY PGD. INTERVENTION(S): None. MAIN OUTCOME MEASURE(S): The patients were studied from clinical and genetic perspectives. Whole-genome sequencing was conducted in family members. RESULT(S): Four first cousins in the third generation were affected by 46,XY PGD. A specific familial characteristic was the prevalence of as high as 100% of gonadal tumors in patients. Whole-genome sequencing identified a new ferritin heavy chain-like 17 (FTHL17) mutation, c.GA442_443TT (p.E148L), which has the potential to interfere with protein function and cause 46,XY PGD. Moreover, the location (Xp21.2) of the FTHL17 gene proves that the family is X-linked recessive. In vitro functional study revealed that the perturbation of FTHL17 caused the decrease of protein expression and cell proliferation. CONCLUSION(S): We describe the first 46,XY PGD pedigree that may be attributed to mutations of the FTHL17 gene. We speculated that the FTHL17 gene is involved in the testis-determining pathway and tumorigenesis.


Assuntos
Apoferritinas/genética , Disgenesia Gonadal 46 XY/genética , Mutação , Neoplasias de Tecido Gonadal/genética , Adolescente , Adulto , Apoferritinas/metabolismo , Proliferação de Células , Análise Mutacional de DNA , Feminino , Predisposição Genética para Doença , Disgenesia Gonadal 46 XY/diagnóstico , Disgenesia Gonadal 46 XY/metabolismo , Disgenesia Gonadal 46 XY/cirurgia , Células HEK293 , Hereditariedade , Humanos , Neoplasias de Tecido Gonadal/diagnóstico , Neoplasias de Tecido Gonadal/metabolismo , Neoplasias de Tecido Gonadal/cirurgia , Linhagem , Fenótipo
6.
Medicina (B Aires) ; 79(1): 67-70, 2019.
Artigo em Espanhol | MEDLINE | ID: mdl-30694192

RESUMO

Teratomas are malign germ cell tumors composed of two or more tissue layers. When there is specific organ differentiation they are called mature teratoma. They rarely grow aggressively. We report the case of a 29 year-old man with a diagnosis of gonadal germ cell tumor whose evolution was unfavorable owing to transformation into a different phenotype corresponding to a rhabdomyosarcoma. This phenomenon occurs through differential growth of a single histological component of the original tumor or transformation of a somatic lineage that becomes dominant. Transformed tumors such as the one herein described differ from most germ cell neoplasms regarding behavior, prognosis, and susceptibility to established treatments.


Assuntos
Transformação Celular Neoplásica/patologia , Neoplasias de Tecido Gonadal/patologia , Rabdomiossarcoma/patologia , Teratoma/patologia , Neoplasias Testiculares/patologia , Adulto , Evolução Fatal , Humanos , Masculino , Teratoma/tratamento farmacológico , Neoplasias Testiculares/tratamento farmacológico
7.
J Pediatr Urol ; 14(2): 154.e1-154.e6, 2018 04.
Artigo em Inglês | MEDLINE | ID: mdl-29317190

RESUMO

INTRODUCTION: Patients with gonadal dysgenesis (GD) with a Y chromosome have an increased risk of gonadal neoplasm. Few data exist on the ability of imaging to detect malignancy in intra-abdominal gonads in these patients. OBJECTIVE: We aimed to determine the correlation between preoperative imaging findings and gonadal pathology in GD patients with Y chromosome material. METHODS: A retrospective review was performed of patients with XY or XO/XY GD who underwent gonadectomy at our institution from 2003 to 2017. Patients were assessed preoperatively with ultrasonography; some additionally underwent MRI. RESULTS: The series consisted of 10 patients, all with female gender and non-palpable gonads. Median age was 13.1 years (range 2.4-18.3 years). Overall, four of the ten patients (40%) had a tumor (gonadoblastoma or dysgerminoma) on final pathology. Four patients had a gonad or gonads that were definitively seen on ultrasonography. All visualized gonads were described as "normal" or "small" with the exception of one patient, who had a normal MRI. Three of the four patients in this group had a tumor on final pathology. The remaining six patients had a gonad or gonads that were not definitively visualized on ultrasound; one patient in this group had a tumor on final pathology. Overall, five of seven gonads (71%) definitively visualized on ultrasound had tumor on final pathology, and two of thirteen gonads (15%) not visualized on ultrasound had tumor on final pathology; this difference was statistically significant (p = 0.012). Three patients were imaged with MRI. Of the gonads that could be visualized on MRI, no definitive abnormalities were seen. All patients imaged with MRI had tumors on final pathology. DISCUSSION: Both ultrasound and MRI are relatively poor at identifying and characterizing intra-abdominal gonads in GD patients. The majority of patients who had a neoplasm had normal imaging findings. Gonads that were definitively visualized on ultrasound were more likely to contain neoplasms that could not be visualized, which perhaps because of tumor growth. No other consistent imaging findings of malignancy were found. Our study included ultrasound evaluations that were completed over 10 years ago and not performed by pediatric ultrasonographers, which may have biased the results. However, results suggest that when discussing gonadectomy with GD patients, one should not be reassured by "normal" imaging findings. Neither ultrasound nor MRI should be relied on for surveillance in GD patients who decide against gonadectomy. CONCLUSION: A normal ultrasound or MRI does not rule out neoplasm in GD patients with intra-abdominal gonads.


Assuntos
Cromossomos Humanos Y/genética , Imageamento por Ressonância Magnética/métodos , Neoplasias de Tecido Gonadal/diagnóstico por imagem , Síndrome de Turner/diagnóstico por imagem , Ultrassonografia Doppler/métodos , Adolescente , Castração/métodos , Criança , Pré-Escolar , Estudos de Coortes , Disgerminoma/etiologia , Disgerminoma/fisiopatologia , Feminino , Disgenesia Gonadal/diagnóstico por imagem , Disgenesia Gonadal/cirurgia , Gonadoblastoma/etiologia , Gonadoblastoma/fisiopatologia , Humanos , Neoplasias de Tecido Gonadal/cirurgia , Cuidados Pré-Operatórios/métodos , Valores de Referência , Estudos Retrospectivos , Medição de Risco , Sensibilidade e Especificidade , Síndrome de Turner/cirurgia
8.
Clin Endocrinol (Oxf) ; 86(4): 621-627, 2017 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-27862157

RESUMO

OBJECTIVE: Phenotypic female disorders of sex development (DSD) patients with Y chromosome or Y-derived sequence have an increased risk of gonadal germ cell tumours (GCTs). The objective of the study was to evaluate tumour risk of DSD, summarize the clinical characteristics of patients with GCTs and propose management suggestions. METHODS: Medical records of 292 patients diagnosed DSD and undergoing bilateral gonadectomy at Peking Union Medical College Hospital from January 1996 to March 2016 were retrospectively reviewed. Tumour histopathological types, risks and clinical characteristics were evaluated. RESULTS: The tumours in DSD included gonadoblastoma, seminoma, dysgerminoma, Sertoli cell tumour, yolk sac tumour and choriocarcinoma. The overall GCTs risk was 15·41% and 46, XY pure gonadal dysgenesis (46, XY PGD) carried the highest risk up to 23·33%, followed by complete androgen insensitivity syndrome (CAIS). The risk of mixed gonadal dysgenesis (GD) or 46, XY 17 alpha-hydroxylase/17, 20-lyase deficiency (46, XY 17 OHD) was <10%, and no tumour was found in five testis regression patients. The ages (years) of tumour diagnosed ranged from 11 to 29 [18 (15, 21) years]. The median age of androgen insensitivity syndrome (AIS) with tumours was comparatively late [19 (18, 24) years], while GCTs occurred during adolescence in 46, XY PGD [17 (15, 20) years] and mixed GD [15 (15, 17) years]. Sex hormone levels were generally unaffected by gonadal GCTs. The positive tumour marker rate before surgery was 58·82% (10/17). Elevated lactate dehydrogenase (LDH) was observed in six cases with dysgerminoma/seminoma. Remarkably elevated α-fetoprotein (AFP) or human chorionic gonadotropin (hCG) was seen in cases with yolk sac tumour or choriocarcinoma, respectively. Mild hyperandrogenism was observed in seven cases with GCTs. Fourteen of 17 pelvic masses found before operation was later proved malignant. CONCLUSION: Disorders of sex development patients with Y chromosome materials have a significantly increased risk of GCTs. Gonadoblastoma and dysgerminoma/seminoma are the most prevalent GCTs and 46, XY PGD carries the highest tumour presence and malignancy risk. AIS could postpone bilateral gonadectomy until or after adolescence, while others with streak gonads should undergo surgery as soon as diagnosis. Specific serum tumour markers could be used in predicting GCTs and monitoring. Optimal care and close follow-up are required.


Assuntos
Cromossomos Humanos Y/genética , Transtornos do Desenvolvimento Sexual/genética , Neoplasias de Tecido Gonadal/genética , Adolescente , Adulto , Síndrome de Resistência a Andrógenos , Sequência de Bases , Criança , Gerenciamento Clínico , Feminino , Disgenesia Gonadal 46 XY , Humanos , Masculino , Neoplasias Embrionárias de Células Germinativas/etiologia , Fenótipo , Estudos Retrospectivos , Risco , Esteroide 17-alfa-Hidroxilase , Adulto Jovem
9.
Clin Exp Obstet Gynecol ; 44(2): 314-316, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-29746049

RESUMO

46,XY pure gonadal dysgenesis (Swyer syndrome) is a rare cause of disorder of sexual development. It is a genetic aberration characterized by a 46,XY karyotype which are phenotypical females, with female genitalia at birth, and normal Müllerian structures. The condition usually becomes apparent first in adolescence with delayed puberty and primary amenorrhea. Herein the authors present the case of a 27-year-old woman with primary amenorrhea and undeveloped breasts. The patient had pure 46,XY gonadal dysgenesis with hypoplastic uterus, estrogen treatment for amenorrhea, and no neoplastic changes on the histopathology report. The authors highlight the high risk of neoplastic transformation of the patient with gonadal dysgenesis, and 46,XY karyotype should be referred for bilateral gonadectomy. Once the diagnosis of Swyer syndrome is established, early treatment is crucial to prevent the development of gonadal malignancy and to enable a normal sex life, and even carry a fetus in an immature uterus.


Assuntos
Estrogênios/uso terapêutico , Neoplasias dos Genitais Femininos , Disgenesia Gonadal 46 XY , Histerectomia/métodos , Neoplasias de Tecido Gonadal , Ovariectomia/métodos , Adulto , Amenorreia/tratamento farmacológico , Amenorreia/etiologia , Feminino , Neoplasias dos Genitais Femininos/etiologia , Neoplasias dos Genitais Femininos/patologia , Neoplasias dos Genitais Femininos/cirurgia , Disgenesia Gonadal 46 XY/diagnóstico , Disgenesia Gonadal 46 XY/genética , Disgenesia Gonadal 46 XY/fisiopatologia , Disgenesia Gonadal 46 XY/cirurgia , Humanos , Neoplasias de Tecido Gonadal/etiologia , Neoplasias de Tecido Gonadal/patologia , Neoplasias de Tecido Gonadal/cirurgia , Administração dos Cuidados ao Paciente , Anormalidades Urogenitais/etiologia , Útero/anormalidades
10.
Medicina (B Aires) ; 76(5): 265-272, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-27723613

RESUMO

Between September 1995 and December 2010, 99 new consecutive assessable patients with extra-cranial MGCT were treated according to SFOP/SFCE TGM95 Protocol. A "watch and wait" strategy for completely resected stage I-II was observed in cases with preoperative high tumor markers levels. Metastatic disease or alpha fetoprotein levels > 15 000 ng/ml cases were treated by VIP chemotherapy (etoposide, ifosfamide and CDDP) 4-6-courses. All other cases were treated by VBP (vinblastine, bleomycin, and CDDP) 3-5 courses. Median age for the whole group was 11.1 (r: 0-17) years. Males: 49, females: 50. Stage I: 19 patients, stage II: 16, stage III: 31 and stage IV: 3. Gonadal disease occurred in 77 cases. Of 21 completely resected stage I-II patients with MGCT who did not receive chemotherapy after surgery, 6 presented disease progression and were successfully treated by chemotherapy and remained disease-free. There were no significant differences in outcome according to age, gender, initial site, staging, and histological variant or high levels of alpha-fetoprotein. Initial non-responsiveness to VIP chemotherapy was the only significant unfavorable prognostic feature. With a median follow-up of 64 (r: 5-204) months, at 10 years EFS and OS estimates for the whole group were 0.82 (SE = 0.05) and 0.90 (SE = 0.03) respectively. Therapy results of MGCT treated with the SFOP/SFCE 95 strategy were excellent. Initial non-response to front line chemotherapy was the only significant adverse prognostic feature. The "watch and wait" strategy for completely resected disease with initial positive markers proved to be safe with optimal outcome.


Assuntos
Neoplasias Embrionárias de Células Germinativas/patologia , Neoplasias Embrionárias de Células Germinativas/terapia , Guias de Prática Clínica como Assunto , Adolescente , Distribuição por Idade , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Masculino , Neoplasias Embrionárias de Células Germinativas/mortalidade , Neoplasias de Tecido Gonadal/mortalidade , Neoplasias de Tecido Gonadal/patologia , Neoplasias de Tecido Gonadal/terapia , Neoplasias Ovarianas/mortalidade , Neoplasias Ovarianas/patologia , Neoplasias Ovarianas/terapia , Prognóstico , Estudos Prospectivos , Reprodutibilidade dos Testes , Medição de Risco , Fatores de Risco , Região Sacrococcígea , Distribuição por Sexo , Neoplasias Testiculares/mortalidade , Neoplasias Testiculares/patologia , Neoplasias Testiculares/terapia , Fatores de Tempo , Conduta Expectante/métodos
11.
Gynecol Endocrinol ; 32(4): 338-41, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-26608236

RESUMO

The objective of this study was to examine risks for gonadal malignancy in a large sample of adult female patients with disorders of sex development (DSD). A retrospective-observational study was conducted from July 1992 to March 2015 and 202 women with DSD were enrolled. Tumor risks for different types of DSD were measured. We found that the patients' total gonadal-malignancy risk was 18.3% (37/202). Tumors included gonadoblastoma (n = 11), seminoma (n = 8), dysgerminoma (n = 5), choriocarcinoma (n = 1), sertoli cell tumors (n = 11), and leydig cell tumors (n = 1). The incidence of gonadal malignancy in patients with complete androgen insensitivity syndrome (CAIS), pure 46, XY gonadal dysgenesis, 45 X/46 XY mixed gonadal dysgenesis, 17α-hydroxylase/17, 20-lyase deficiency and partial androgen insensitivity syndrome (PAIS) were 27.1% (13/48), 22.4% (15/67), 10.9% (5/46), 10% (2/20) and 9.5% (2/21), respectively. Our results suggest that the incidence of gonadal malignancy increases with age for female patients with Y-chromosome material. Upon diagnoses, immediate, prophylactic gonadectomies should be considered for adult female patients with DSD containing Y chromosome material if they cannot receive regular follow-ups.


Assuntos
Transtorno 46,XY do Desenvolvimento Sexual/complicações , Neoplasias de Tecido Gonadal/etiologia , Adolescente , Adulto , Feminino , Humanos , Neoplasias de Tecido Gonadal/cirurgia , Estudos Retrospectivos , Adulto Jovem
12.
Mol Cell Endocrinol ; 409: 41-50, 2015 Jul 05.
Artigo em Inglês | MEDLINE | ID: mdl-25869398

RESUMO

Activins and inhibins are involved in the regulation of several biological processes, including reproduction, development and fertility. Deregulation of the inhibin/activin signaling pathway has been implicated in the progression of reproductive and adrenal cancers. Deletion of the inhibin α-subunit results in up-regulation of the circulating levels of activins and this leads to the development of sex-cord stromal tumors followed by a cancer associated-cachexia in mice. When gonadectomy is performed, development of adrenocortical carcinomas is observed. We previously showed that overexpression of activin-ßC modulates the development of sex-cord stromal tumors and reduces cancer-cachexia in the inhibin-deficient mice by antagonizing the activin signaling pathway. The adrenal cortex and gonads share in common a large subset of genes, consistent with their common embryonic lineage. Additionally, it has been shown that adrenocortical carcinomas adopt an altered cellular identity resembling the ovary. Therefore, a study to assess the impact of overexpression of activin-ßC on the onset of adrenocortical carcinoma in gonadectomized inhibin-deficient mice was warranted. Within the current study we evaluated markers of apoptosis, proliferation, tumor burden, survival analysis and serum levels of activin-A in gonadectomized mice versus sham operated controls. Results showed that overexpression of activin-ßC modulated the development of reproductive tumors but had no effect on adrenal tumorigenesis. Our data reinforces the importance of activin-ßC in reproductive biology and suggest that activin-ßC is a tumor modulator with gonadal specificity.


Assuntos
Neoplasias das Glândulas Suprarrenais/patologia , Subunidades beta de Inibinas/deficiência , Subunidades beta de Inibinas/metabolismo , Neoplasias de Tecido Gonadal/patologia , Neoplasias das Glândulas Suprarrenais/metabolismo , Animais , Feminino , Gônadas/cirurgia , Masculino , Camundongos , Camundongos Knockout , Neoplasias de Tecido Gonadal/metabolismo , Análise de Sobrevida
13.
Curr Opin Endocrinol Diabetes Obes ; 21(6): 499-503, 2014 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-25354046

RESUMO

PURPOSE OF REVIEW: Androgen insensitivity syndrome (AIS) can present with a wide range of phenotypes, and its management requires a multidisciplinary approach from diagnosis in infancy to adulthood. This review provides an update on some clinical and genetic aspects in AIS. Additional outcome data on surgical and psychosexual findings are presented, together with a discussion on the risk of development of gonadal tumours in AIS. RECENT FINDINGS: This review covers clinical features of AIS, including recent trends in sex of rearing, aspects of androgen receptor gene mutations and longer term outcomes in both complete and partial forms of AIS. SUMMARY: More follow-up studies are needed to optimize management in AIS, especially in the partial form. Predicting the risk of gonadal tumours is key to determining the timing of gonadectomy or whether to retain the gonads in the long term.


Assuntos
Síndrome de Resistência a Andrógenos/diagnóstico , Gônadas/patologia , Neoplasias Embrionárias de Células Germinativas/prevenção & controle , Neoplasias de Tecido Gonadal/prevenção & controle , Receptores Androgênicos/genética , Síndrome de Resistência a Andrógenos/genética , Síndrome de Resistência a Andrógenos/patologia , Aconselhamento Genético , Humanos , Masculino , Neoplasias Embrionárias de Células Germinativas/genética , Neoplasias Embrionárias de Células Germinativas/patologia , Neoplasias de Tecido Gonadal/genética , Neoplasias de Tecido Gonadal/patologia , Fenótipo , Prognóstico , Fatores de Risco
14.
Am J Clin Pathol ; 142(5): 675-82, 2014 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-25319984

RESUMO

OBJECTIVES: To report three new cases of testicular myoid gonadal stromal tumor to better characterize its features. METHODS: The clinicopathologic findings (including follow-up) were evaluated and a review of the literature was performed. RESULTS: The patients were 38, 43, and 59 years old, and tumor sizes were 1.2, 1.3, and 3.2 cm. All were unilateral, well circumscribed, adjacent to the rete testis, and composed exclusively of spindled cells with elongated nuclei and occasional nuclear grooves arranged in fascicles with admixed variably ectatic blood vessels. Nucleoli were inconspicuous, and the cytoplasm was scant, ill-defined, and pale/lightly eosinophilic. No sex cord component was present. Mitotic figures ranged from zero to five per 10 high-power fields. Significant atypia, lymphovascular invasion, and necrosis were absent. All were consistently positive for smooth muscle actin, S100 protein, FOXL2, and steroidogenic factor 1 but negative for h-caldesmon, calretinin, and SOX9. Inhibin and calponin were focally positive. All patients were alive and well at 5, 31, and 58 months postorchiectomy. Combining our cases with those previously reported (n = 6) shows that this neoplasm occurs mostly in younger men (mean, 37 years), and all follow-up thus far (mean, 25 months) has been benign. CONCLUSIONS: Myoid gonadal stromal tumors are small (<4 cm) indolent testicular tumors distinctly different from other sex cord-stromal tumors and are adequately managed by orchiectomy.


Assuntos
Biomarcadores Tumorais/metabolismo , Células Estromais/patologia , Neoplasias Testiculares/metabolismo , Neoplasias Testiculares/patologia , Testículo/patologia , Adulto , Diagnóstico Diferencial , Humanos , Imuno-Histoquímica , Masculino , Pessoa de Meia-Idade , Neoplasias de Tecido Gonadal/metabolismo , Neoplasias de Tecido Gonadal/patologia , Neoplasias de Tecido Gonadal/terapia , Neoplasias Testiculares/terapia , Testículo/metabolismo , Resultado do Tratamento
15.
Cytokine Growth Factor Rev ; 24(5): 477-84, 2013 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-23787160

RESUMO

Members of the transforming growth factor ß (TGF-ß) family regulate fundamental physiological process, such as cell growth, differentiation and apoptosis. As a result, defects in this pathway have been linked to uncontrolled proliferation and cancer progression. Here we explore the signal transduction mechanism of TGF-ß focusing on therapeutic intervention in human diseases. Like TGF-ß, another member of the TGF-ß superfamily, activin has been proven to play an important role in maintenance of tissue homeostasis and dysregulation leads to disease. Several studies showed elevated levels of activin are responsible for the development of gonadal tumours and a cachexia-like weight loss syndrome. Discussing the recent advances in approaches developed to antagonise the activin pathway and the encouraging results obtained in animal models, this review presents a therapeutic rationale for targeting the activin pathway in conditions such as cachexia, neuromuscular and/or musculoskeletal disorders.


Assuntos
Ativinas/antagonistas & inibidores , Antineoplásicos/uso terapêutico , Caquexia/tratamento farmacológico , Doenças Musculoesqueléticas/tratamento farmacológico , Proteínas de Neoplasias/antagonistas & inibidores , Neoplasias de Tecido Gonadal/tratamento farmacológico , Doenças Neuromusculares/tratamento farmacológico , Transdução de Sinais/efeitos dos fármacos , Ativinas/genética , Ativinas/metabolismo , Animais , Caquexia/genética , Caquexia/metabolismo , Proliferação de Células/efeitos dos fármacos , Humanos , Doenças Musculoesqueléticas/genética , Doenças Musculoesqueléticas/metabolismo , Proteínas de Neoplasias/genética , Proteínas de Neoplasias/metabolismo , Neoplasias de Tecido Gonadal/genética , Neoplasias de Tecido Gonadal/metabolismo , Doenças Neuromusculares/genética , Doenças Neuromusculares/metabolismo , Transdução de Sinais/genética , Fator de Crescimento Transformador beta/genética , Fator de Crescimento Transformador beta/metabolismo
16.
Dis Markers ; 34(6): 419-24, 2013.
Artigo em Inglês | MEDLINE | ID: mdl-23396295

RESUMO

BACKGROUND: Gonadoblastoma (GB) is regarded as an in situ form of germ cell tumor in dysgenetic gonads, and 30% of patients with GB develop a dysgerminoma/seminoma tumor. OBJECTIVE: Determine whether OCT3/4 and ß-catenin are expressed in dysgenetic gonads before GB development and whether TSPY participates in the OCT3/4-ß-catenin pathways in the malignant invasive behavior. METHODS: dysgenetic gonads of Disorders of sex differentiation (DSD) patients with mixed gonadal dysgenesis were analyzed by immunohistochemistry and immunofluorescence for comparison with GB and dysgerminoma/seminoma. RESULTS: Our results suggest that the development of GB is secondary to the interaction of OCT3/4 and TSPY, that ß-catenin does not participate in this process. CONCLUSIONS: The use of this biological markers detects the potential high risk gonads.


Assuntos
Biomarcadores Tumorais/análise , Proteínas de Ciclo Celular/análise , Disgenesia Gonadal/diagnóstico , Gonadoblastoma/diagnóstico , Neoplasias de Tecido Gonadal/diagnóstico , Fator 3 de Transcrição de Octâmero/análise , beta Catenina/análise , Estudos de Casos e Controles , Criança , Disgerminoma/diagnóstico , Humanos
17.
J Pediatr Endocrinol Metab ; 25(5-6): 547-51, 2012.
Artigo em Inglês | MEDLINE | ID: mdl-22876554

RESUMO

Complete androgen insensitivity syndrome (AIS) is an X-linked disorder of sex development. Surgical management entails timely gonadectomy given the risk of malignant transformation. Our patient presented at age 15 years with primary amenorrhea. Initial laboratory testing showed elevated testosterone, luteinizing hormone, anti-Müllerian hormone levels, and 46,XY karyotype. Imaging studies showed no uterus, ovaries, and identified two candidate gonads. She underwent bilateral gonadectomy. Pathology reports revealed Sertoli cell and intratubular germ cell tumors located in separate gonads. Our case is the first report of the youngest patient with AIS with bilateral gonadal tumors derived from different histological origins. We also review literature for reports of AIS patients with gonadal tumors. Currently, there is no consensus for the timing of gonadectomy in AIS patients. However, given the varying potential for malignant transformation of gonads in AIS patients with different phenotypes, development of a standardized treatment guideline is indicated.


Assuntos
Síndrome de Resistência a Andrógenos/patologia , Disgenesia Gonadal 46 XY/patologia , Neoplasias Embrionárias de Células Germinativas/patologia , Neoplasias de Tecido Gonadal/patologia , Segunda Neoplasia Primária/patologia , Tumor de Células de Sertoli/patologia , Adolescente , Síndrome de Resistência a Andrógenos/genética , Feminino , Disgenesia Gonadal 46 XY/genética , Humanos , Masculino , Neoplasias Embrionárias de Células Germinativas/cirurgia , Neoplasias de Tecido Gonadal/cirurgia , Segunda Neoplasia Primária/cirurgia , Tumor de Células de Sertoli/cirurgia
18.
Int J Androl ; 35(4): 616-25, 2012 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-22320869

RESUMO

Germ cell tumours (GCTs) most often arise in the gonads, but some develop extragonadally. The aim of this study was to examine gender- and race-specific trends in incidence and survival of gonadal (GGCTs) and extragonadal GCTs (EGCTs) in the US from 1973 to 2007. We also examined the topographical distribution of EGCTs by race and gender. We estimated age-specific and age-standardized incidence rates and 5-year relative survival rates (RSR) of GCTs using the Surveillance, Epidemiology and End Results (SEER) Program (SEER nine registries). GCTs and their topographical sites were identified using ICD-O morphology and topography codes. Of 21,170 GCTs among males, 5.7% were extragonadal (Whites 5.5%; Blacks 16.3%). Of 2093 GCTs among females, 39.3% were extragonadal (Whites, 36.9%; Blacks 51.0%). The incidence of GGCT was much higher among White (56.3/1,000,000) than Black males (10.0/1,000,000), while there was no difference in incidence between White and Black females (3.2/1,000,000). The rates of EGCT among men and women of both races were similar (range:1.9-3.4/1,000,000). The most frequent extragonadal sites were mediastinum among males and placenta among females. The 5-year RSR of testicular GCT was higher among Whites (97%) than Blacks (90%), as was the 5-year RSR of ovarian GCT (Whites, 92%; Blacks 85%). In general, the 5-year RSRs of EGCTs were lower than the 5-year RSRs of GGCTs. The different incidence trends of GGCTs and EGCTs and distinct age-specific incidence patterns by anatomical site of EGCTs suggest that GGCTs and EGCTs may have different aetiologies.


Assuntos
Neoplasias Embrionárias de Células Germinativas/epidemiologia , Neoplasias Embrionárias de Células Germinativas/mortalidade , Neoplasias de Tecido Gonadal/epidemiologia , Neoplasias de Tecido Gonadal/mortalidade , Adulto , Fatores Etários , Feminino , Geografia/tendências , Humanos , Incidência , Masculino , Grupos Raciais , Sistema de Registros , Programa de SEER/estatística & dados numéricos , Fatores Sexuais , Sobrevida , Estados Unidos/epidemiologia
19.
PLoS Genet ; 7(3): e1001357, 2011 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-21483806

RESUMO

Mild mutations in BRCA2 (FANCD1) cause Fanconi anemia (FA) when homozygous, while severe mutations cause common cancers including breast, ovarian, and prostate cancers when heterozygous. Here we report a zebrafish brca2 insertional mutant that shares phenotypes with human patients and identifies a novel brca2 function in oogenesis. Experiments showed that mutant embryos and mutant cells in culture experienced genome instability, as do cells in FA patients. In wild-type zebrafish, meiotic cells expressed brca2; and, unexpectedly, transcripts in oocytes localized asymmetrically to the animal pole. In juvenile brca2 mutants, oocytes failed to progress through meiosis, leading to female-to-male sex reversal. Adult mutants became sterile males due to the meiotic arrest of spermatocytes, which then died by apoptosis, followed by neoplastic proliferation of gonad somatic cells that was similar to neoplasia observed in ageing dead end (dnd)-knockdown males, which lack germ cells. The construction of animals doubly mutant for brca2 and the apoptotic gene tp53 (p53) rescued brca2-dependent sex reversal. Double mutants developed oocytes and became sterile females that produced only aberrant embryos and showed elevated risk for invasive ovarian tumors. Oocytes in double-mutant females showed normal localization of brca2 and pou5f1 transcripts to the animal pole and vasa transcripts to the vegetal pole, but had a polarized rather than symmetrical nucleus with the distribution of nucleoli and chromosomes to opposite nuclear poles; this result revealed a novel role for Brca2 in establishing or maintaining oocyte nuclear architecture. Mutating tp53 did not rescue the infertility phenotype in brca2 mutant males, suggesting that brca2 plays an essential role in zebrafish spermatogenesis. Overall, this work verified zebrafish as a model for the role of Brca2 in human disease and uncovered a novel function of Brca2 in vertebrate oocyte nuclear architecture.


Assuntos
Proteína BRCA2/fisiologia , Instabilidade Genômica , Neoplasias de Tecido Gonadal/genética , Oócitos/fisiologia , Oogênese , Espermatogênese , Proteínas de Peixe-Zebra/fisiologia , Peixe-Zebra/fisiologia , Sequência de Aminoácidos , Animais , Apoptose/genética , Proteína BRCA2/genética , Transformação Celular Neoplásica/genética , Modelos Animais de Doenças , Anemia de Fanconi/genética , Feminino , Genes p53/genética , Genes p53/fisiologia , Humanos , Masculino , Dados de Sequência Molecular , Mutagênese Insercional/genética , Oócitos/citologia , Fenótipo , Espermatócitos/citologia , Peixe-Zebra/genética , Proteínas de Peixe-Zebra/genética
20.
Onkologie ; 33(8-9): 452-4, 2010.
Artigo em Inglês | MEDLINE | ID: mdl-20838061

RESUMO

BACKGROUND: Paraneoplastic limbic or brainstem encephalitis is considered to be an autoimmune-mediated disorder of the nervous system associated with different types of cancer including germ cell tumors. CASE REPORT: We report on a 31-year-old patient presenting with eye motility dysfunction, dysarthrophonia, lethargy, depression, slow mentation, disorientation, dysgraphia, and retarded motion sequence. Neurologic tests, brain imaging, and blood chemistry tests failed to determine the cause of the symptoms. Further examinations including ultrasound of the abdomen led to the detection of a retroperitoneal mass. The biopsy of this mass showed fractions of a choriocarcinoma. The patient underwent curative chemotherapy, but although the cancer therapy was successful, the neurologic disorders did not improve. Concurrent examination for anti-Ma2 antibodies in the serum was positive and confirmed the paraneoplastic origin of these symptoms. CONCLUSIONS: Patients with symptoms of limbic or brainstem encephalitis, especially young men, should be tested for anti-Ma2 antibodies in the serum to elucidate their origin. The detection of these antibodies supports the diagnosis of a paraneoplastic syndrome, and may lead to the earlier identification of an otherwise hidden extragonadal germ cell tumor.


Assuntos
Anticorpos Antineoplásicos/imunologia , Antígenos de Neoplasias/imunologia , Encefalite Límbica/diagnóstico , Encefalite Límbica/imunologia , Proteínas do Tecido Nervoso/imunologia , Neoplasias Peritoneais/diagnóstico , Neoplasias Peritoneais/imunologia , Adulto , Diagnóstico Diferencial , Humanos , Masculino , Neoplasias de Tecido Gonadal
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