RESUMEN
PURPOSE: To evaluate the association between serum alpha-fetoprotein (AFP) half-life (HL) and prognosis in prepubertal children with elevated AFP values 3 to 4 weeks after surgery for testicular yolk sac tumors (YST). METHODS: Prepubertal patients with testicular YST treated with radical orchiectomy between January 2016 and December 2022 were retrospectively reviewed. Negative outcomes were defined as relapse, metastasis or death. Univariate and multivariate logistic regression analyses were conducted to select risk factors for negative outcomes. RESULTS: A total of 42 patients were eventually enrolled into the study. Patients were divided into non-negative and negative outcomes groups, consisting of 35 and 7 patients, respectively. Thirty-five patients were stage I, two cases were stage II, and five cases were stage IV, according to the Children's Oncology Group staging system. The overall survival (OS) rate was 100%. Average AFP values significantly decreased after resection (P < 0.001). A significant positive correlation was shown between pre- and postoperative AFP values (r = 0.60, P < 0.001). Long AFP HL was considered as an independent risk factor for negative outcomes in YST patients underwent radical orchiectomy (P = 0.04). The cut-off value for AFP HL was 5.78 days, regardless of age division. CONCLUSION: Testicular YST is a relatively rare disease in children with an OS of 100%, and salvage chemotherapy is effective even in grade IV patients. The postoperative AFP HL was significantly associated with prognosis in prepubertal patients with testicular YST. The cut-off value for AFP HL is 5.78 days regardless of the effect of physiological AFP elevation.
Asunto(s)
Tumor del Seno Endodérmico , Neoplasias Testiculares , alfa-Fetoproteínas , Humanos , Masculino , alfa-Fetoproteínas/metabolismo , alfa-Fetoproteínas/análisis , Neoplasias Testiculares/sangre , Neoplasias Testiculares/cirugía , Neoplasias Testiculares/patología , Pronóstico , Estudios Retrospectivos , Preescolar , Niño , Tumor del Seno Endodérmico/sangre , Tumor del Seno Endodérmico/cirugía , Tumor del Seno Endodérmico/patología , Orquiectomía , LactanteRESUMEN
BACKGROUND: The current biomarkers alpha-fetoprotein and human chorionic gonadotropin have limited sensitivity and specificity for diagnosing malignant germ-cell tumours (GCTs). MicroRNAs (miRNAs) from the miR-371-373 and miR-302/367 clusters are overexpressed in all malignant GCTs, and some of these miRNAs show elevated serum levels at diagnosis. Here, we developed a robust technical pipeline to quantify these miRNAs in the serum and cerebrospinal fluid (CSF). The pipeline was used in samples from a cohort of exclusively paediatric patients with gonadal and extragonadal malignant GCTs, compared with appropriate tumour and non-tumour control groups. METHODS: We developed a method for miRNA quantification that enabled sample adequacy assessment and reliable data normalisation. We performed qRT-PCR profiling for miR-371-373 and miR-302/367 cluster miRNAs in a total of 45 serum and CSF samples, obtained from 25 paediatric patients. RESULTS: The exogenous non-human spike-in cel-miR-39-3p and the endogenous housekeeper miR-30b-5p were optimal for obtaining robust serum and CSF qRT-PCR quantification. A four-serum miRNA panel (miR-371a-3p, miR-372-3p, miR-373-3p and miR-367-3p): (i) showed high sensitivity/specificity for diagnosing paediatric extracranial malignant GCT; (ii) allowed early detection of relapse of a testicular mixed malignant GCT; and (iii) distinguished intracranial malignant GCT from intracranial non-GCT tumours at diagnosis, using CSF and serum samples. CONCLUSIONS: The pipeline we have developed is robust, scalable and transferable. It potentially promises to improve clinical management of paediatric (and adult) malignant GCTs.
Asunto(s)
Biomarcadores de Tumor/sangre , Neoplasias del Sistema Nervioso Central/diagnóstico , MicroARNs/sangre , Recurrencia Local de Neoplasia/diagnóstico , Neoplasias de Células Germinales y Embrionarias/diagnóstico , Neoplasias Ováricas/diagnóstico , Neoplasias Testiculares/diagnóstico , Adolescente , Biomarcadores de Tumor/líquido cefalorraquídeo , Carcinoma Embrionario/sangre , Carcinoma Embrionario/líquido cefalorraquídeo , Carcinoma Embrionario/diagnóstico , Neoplasias del Sistema Nervioso Central/sangre , Neoplasias del Sistema Nervioso Central/líquido cefalorraquídeo , Niño , Preescolar , Coriocarcinoma no Gestacional/sangre , Coriocarcinoma no Gestacional/líquido cefalorraquídeo , Coriocarcinoma no Gestacional/diagnóstico , Gonadotropina Coriónica/sangre , Gonadotropina Coriónica/líquido cefalorraquídeo , Tumor del Seno Endodérmico/sangre , Tumor del Seno Endodérmico/líquido cefalorraquídeo , Tumor del Seno Endodérmico/diagnóstico , Femenino , Germinoma/sangre , Germinoma/líquido cefalorraquídeo , Germinoma/diagnóstico , Humanos , Lactante , Recién Nacido , Masculino , MicroARNs/líquido cefalorraquídeo , Recurrencia Local de Neoplasia/sangre , Recurrencia Local de Neoplasia/líquido cefalorraquídeo , Neoplasias de Células Germinales y Embrionarias/sangre , Neoplasias de Células Germinales y Embrionarias/líquido cefalorraquídeo , Neoplasias Ováricas/sangre , Neoplasias Ováricas/líquido cefalorraquídeo , Reacción en Cadena de la Polimerasa , Región Sacrococcígea , Sensibilidad y Especificidad , Neoplasias Testiculares/sangre , Neoplasias Testiculares/líquido cefalorraquídeo , alfa-Fetoproteínas/líquido cefalorraquídeo , alfa-Fetoproteínas/metabolismoRESUMEN
BACKGROUND: The ovarian yolk sac tumor (OYST) is a very rare malignancy arising in young women. Our objective was to determine whether an early decline in serum alpha-fetoprotein (AFP) during chemotherapy has a prognostic impact. METHODS: This retrospective study is based on prospectively recorded OYST cases at Gustave Roussy (Cancer Treatment Center). Survival curves were estimated using the Kaplan-Meier method. The serum AFP decline was calculated with the formula previously developed and validated in male patients with poor prognosis non-seminomatous germ cell tumors. Univariate and multivariate analyses were performed using the log-rank test and logistic regression, respectively. RESULTS: Data on AFP were available to calculate an early AFP decline in 57 patients. All patients had undergone surgery followed by chemotherapy. The 5-year overall survival (OS) and event-free survival (EFS) rates were 86% (95% CI: 74%-93%) and 84% (95% CI: 73%-91%), respectively. The disease stage, presence of ascites at presentation, use of the BEP regimen, serum AFP half-life and an early AFP decline were significantly predictive factors for OS and EFS in the univariate analysis. The OS rate was 100% and 49% (95% CI: 26%-72%) in patients with a favorable AFP decline and in those with an unfavorable decline, respectively (p<0.001). In the multivariate analysis, only the presence of ascites at diagnosis (RR=7.3, p=0.03) and an unfavorable early AFP decline (RR=16.9, p<0.01) were significant negative predictive factors for OS. CONCLUSIONS: An early AFP decline during chemotherapy is an independent prognostic factor in patients with OYSTs. CONFLICT OF INTEREST STATEMENT: No conflict of interest.
Asunto(s)
Tumor del Seno Endodérmico/sangre , Tumor del Seno Endodérmico/tratamiento farmacológico , Neoplasias Ováricas/sangre , Neoplasias Ováricas/tratamiento farmacológico , alfa-Fetoproteínas/metabolismo , Adolescente , Adulto , Tumor del Seno Endodérmico/patología , Femenino , Humanos , Persona de Mediana Edad , Estadificación de Neoplasias , Neoplasias Ováricas/patología , Pronóstico , Estudios Retrospectivos , Adulto JovenRESUMEN
Primary YST of the endometrium is very rare, therefore there is no guideline for treatment. We report two cases of endometrial YSTs presenting different symptoms and showing different prognoses and discuss the clinical management of these tumors. The present report shows first time that bone and lung metastasis in primary YSTs of endometrium. As the number of reported cases with endometrial YSTs, more information about the prognosis of the disease may be obtained.
Asunto(s)
Neoplasias Óseas/secundario , Tumor del Seno Endodérmico/secundario , Neoplasias Endometriales/patología , Neoplasias Pulmonares/secundario , Adulto , Biomarcadores de Tumor/sangre , Biopsia , Quimioterapia Adyuvante , Tumor del Seno Endodérmico/sangre , Tumor del Seno Endodérmico/química , Tumor del Seno Endodérmico/terapia , Neoplasias Endometriales/sangre , Neoplasias Endometriales/química , Neoplasias Endometriales/terapia , Femenino , Procedimientos Quirúrgicos Ginecológicos , Humanos , Inmunohistoquímica , Escisión del Ganglio Linfático , Persona de Mediana Edad , Estadificación de Neoplasias , Resultado del TratamientoAsunto(s)
Protocolos de Quimioterapia Combinada Antineoplásica/uso terapéutico , Carcinoma Hepatocelular/diagnóstico por imagen , Tumor del Seno Endodérmico/diagnóstico por imagen , Neoplasias Hepáticas/diagnóstico por imagen , Hígado/diagnóstico por imagen , Carcinoma Hepatocelular/sangre , Carcinoma Hepatocelular/patología , Diagnóstico Diferencial , Tumor del Seno Endodérmico/sangre , Tumor del Seno Endodérmico/tratamiento farmacológico , Tumor del Seno Endodérmico/patología , Biopsia por Aspiración con Aguja Fina Guiada por Ultrasonido Endoscópico , Endosonografía , Femenino , Hepatectomía/métodos , Humanos , Hígado/patología , Pruebas de Función Hepática , Neoplasias Hepáticas/sangre , Neoplasias Hepáticas/tratamiento farmacológico , Neoplasias Hepáticas/patología , Imagen por Resonancia Magnética , Persona de Mediana Edad , Terapia Neoadyuvante , alfa-Fetoproteínas/análisisRESUMEN
OBJECTIVE: The aim of the study was to identify the role of neoadjuvant chemotherapy (NACT) in the treatment of the patients with advanced stage ovarian yolk sac tumor (OYST). METHODS: The comparative study was based on 53 cases with advanced stage OYST registered at Peking Union Medical College Hospital from 1995 to 2010. Twenty one cases were treated with NACT followed by interval debulking surgery (IDS). Thirty two cases were treated with primary debulking surgery (PDS). Data on patient characteristics, treatment and survival were analyzed and compared between two groups to assess the outcome of NACT. RESULTS: After NACT, the overall status of the patients was improved significantly. Patients in NACT had better optimal cytoreduction rate and less peri-operative morbidities. Seven patients (13.2%) suffered from relapse. There was a significantly better PFS for patients with ovarian tumor size >20cm in the NACT than those underwent PDS. Residual disease >2cm was the independent risk factor of relapse. CONCLUSIONS: NACT is the better treatment option for some patients with advanced stage OYST, especially for those with unresectable tumors and poor general condition.
Asunto(s)
Protocolos de Quimioterapia Combinada Antineoplásica/administración & dosificación , Tumor del Seno Endodérmico/tratamiento farmacológico , Neoplasias Ováricas/tratamiento farmacológico , Adulto , Quimioterapia Adyuvante , Cisplatino/administración & dosificación , Supervivencia sin Enfermedad , Esquema de Medicación , Tumor del Seno Endodérmico/sangre , Tumor del Seno Endodérmico/patología , Tumor del Seno Endodérmico/cirugía , Femenino , Estudios de Seguimiento , Humanos , Estimación de Kaplan-Meier , Terapia Neoadyuvante , Estadificación de Neoplasias , Neoplasias Ováricas/sangre , Neoplasias Ováricas/patología , Neoplasias Ováricas/cirugía , Modelos de Riesgos Proporcionales , Adulto Joven , alfa-Fetoproteínas/análisisRESUMEN
The yolk sac tumor is one of the most common malignant germ cell tumors in young children and typically occurs in the gonads. We report 6 cases of children less than 30 months old with extragonadal atypical locations of yolk sac tumor. These rare diagnoses were established by raised serum α-fetoprotein levels and biopsies. These patients were treated according to the French TGM 95 trial. All the patients are alive disease-free after ≥2.5 years of follow-up. We want to highlight the importance of measuring the α-fetoprotein levels in very young children presenting with any midline tumor, even if the tumor is not located in the typical extragonadal sites such as the sacrococcyx, mediastinum, retroperitoneum, or vagina.
Asunto(s)
Tumor del Seno Endodérmico/patología , Neoplasias Nasofaríngeas/patología , Neoplasias de Células Germinales y Embrionarias/patología , Neoplasias de los Senos Paranasales/patología , Neoplasias del Pene/patología , Neoplasias Peritoneales/patología , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapéutico , Biopsia , Bleomicina/uso terapéutico , Preescolar , Cisplatino/uso terapéutico , Terapia Combinada , Supervivencia sin Enfermedad , Tumor del Seno Endodérmico/sangre , Tumor del Seno Endodérmico/terapia , Femenino , Humanos , Lactante , Masculino , Neoplasias Nasofaríngeas/sangre , Neoplasias Nasofaríngeas/terapia , Neoplasias de Células Germinales y Embrionarias/sangre , Neoplasias de Células Germinales y Embrionarias/terapia , Neoplasias de los Senos Paranasales/sangre , Neoplasias de los Senos Paranasales/terapia , Neoplasias del Pene/sangre , Neoplasias del Pene/terapia , Neoplasias Peritoneales/sangre , Neoplasias Peritoneales/terapia , Vincristina/uso terapéutico , Espera Vigilante , alfa-Fetoproteínas/metabolismoRESUMEN
BACKGROUND: Primary yolk sac tumour of the liver is extremely rare, and when it occurs in a young child it can be confused with hepatoblastoma. OBJECTIVE: To present a retrospective case series of primary hepatic yolk sac tumour from two institutions to highlight the imaging features. MATERIALS AND METHODS: We conducted a retrospective review of pathological and imaging findings in biopsy-proven pure primary yolk sac tumour of the liver. RESULTS: A total of three children (15 months to 6 years) presented between 2006 and 2012 with primary hepatic yolk sac tumour. Two children presented with acute abdomen after minor trauma caused by tumour rupture and haemoperitoneum. We identified five additional paediatric cases of pure hepatic yolk sac tumour with descriptions of imaging findings in the literature. In seven of these eight children, central necrosis was seen on cross-sectional imaging. CONCLUSION: Primary yolk sac tumour should be considered as an alternative diagnosis to hepatoblastoma in a young child with a large liver mass and significantly raised serum alpha-foetoprotein, but in view of the nonspecific imaging features histological examination is essential for diagnosis. Although there are no specific imaging findings of primary yolk sac tumour, presence of cystic or necrotic areas and a tendency for tumour rupture are suggestive features.
Asunto(s)
Biomarcadores de Tumor/sangre , Tumor del Seno Endodérmico/sangre , Tumor del Seno Endodérmico/diagnóstico , Neoplasias Hepáticas/sangre , Neoplasias Hepáticas/diagnóstico , alfa-Fetoproteínas/metabolismo , Niño , Preescolar , Diagnóstico Diferencial , Tumor del Seno Endodérmico/terapia , Femenino , Hepatoblastoma/sangre , Hepatoblastoma/diagnóstico , Humanos , Lactante , Neoplasias Hepáticas/terapia , Imagen por Resonancia Magnética , Masculino , Tomografía Computarizada por Rayos X , Resultado del TratamientoRESUMEN
OBJECTIVE: Six cases of endodermal sinus tumor (EST) of the vagina were reported focusing on the results of conservative treatment and outcome of long-term follow up. METHODS: We reviewed a cohort of six cases with EST of the vagina diagnosed and treated in our hospital. CT scan, detection of serum AFP level, examination under anesthesia and biopsy were performed before and after treatment to evaluate the tumor status. The diagnoses were confirmed by pathological and imaging findings. All patients were treated with bleomycin, etoposide and cisplatin (BEP) combination chemotherapy alone. Complete remission (CR) includes the normal level of serum AFP, no tumor detected by CT scan and the negative result of pathology. Long-term follow up was carried out according to our regulation. RESULTS: The mean onset age was 18.2 months. The average tumor size was 4.5 cm. Serum AFP level was markedly elevated before treatment and decreased dramatically after chemotherapy and drop to the normal level after two to three courses of chemotherapy (average 2.5 courses). The patients received averagely six courses of chemotherapy and all the six patients obtained CR. The mean follow-up time is 75.5 months and there was no evidence of recurrent disease. CONCLUSION: The result of this conservative treatment for EST of the vagina is excellent. BEP chemotherapy without surgery should be considered as a good choice of treatment. Close follow up with serial determinations of serum AFP level together with imaging tests and physical examination in the first two years of follow-up are recommended.
Asunto(s)
Protocolos de Quimioterapia Combinada Antineoplásica/uso terapéutico , Tumor del Seno Endodérmico/tratamiento farmacológico , Neoplasias Vaginales/tratamiento farmacológico , Protocolos de Quimioterapia Combinada Antineoplásica/administración & dosificación , Protocolos de Quimioterapia Combinada Antineoplásica/efectos adversos , Bleomicina/administración & dosificación , Bleomicina/efectos adversos , Preescolar , Cisplatino/administración & dosificación , Cisplatino/efectos adversos , Ciclofosfamida/administración & dosificación , Ciclofosfamida/efectos adversos , Dactinomicina/administración & dosificación , Dactinomicina/efectos adversos , Tumor del Seno Endodérmico/sangre , Tumor del Seno Endodérmico/patología , Etopósido/administración & dosificación , Etopósido/efectos adversos , Femenino , Preservación de la Fertilidad , Estudios de Seguimiento , Humanos , Lactante , Estadificación de Neoplasias , Resultado del Tratamiento , Neoplasias Vaginales/sangre , Neoplasias Vaginales/patología , Vincristina/administración & dosificación , Vincristina/efectos adversos , alfa-Fetoproteínas/metabolismoRESUMEN
Although yolk sac tumors (YSTs) are the second most common malignant germ cell tumor of the ovary, those arising from the omentum or pelvic peritoneum are extremely rare and have no established treatment guidelines. We report a case of a primary YST disseminated throughout the abdomen and associated with a high serum alpha-fetoprotein (AFP) elevation (441 611 ng/ml). Optimal cytoreduction was not achieved in order to preserve the patient's fertility and avoid adjacent organ injury. Residual tumor responded to adjuvant chemotherapy with a sharp decline in AFP levels, and confirmed remission was documented by serial (18)F-fluorodexyglucose-positoron emission tomography and computerized tomography (FDG-PET/CT). In cases of advanced YST with unresectable residual disease, AFP levels combined with FDG-PET/CT scans may be a helpful way to monitor treatment response and assist in treatment planning for a disease that primarily affects young women who may desire to preserve fertility.
Asunto(s)
Neoplasias Abdominales/diagnóstico por imagen , Tumor del Seno Endodérmico/diagnóstico por imagen , Fluorodesoxiglucosa F18 , Imagen Multimodal , Tomografía de Emisión de Positrones , Radiofármacos , Tomografía Computarizada por Rayos X , alfa-Fetoproteínas/metabolismo , Neoplasias Abdominales/sangre , Adulto , Tumor del Seno Endodérmico/sangre , Femenino , HumanosRESUMEN
Environmental endocrine disruptors (EEDs) are natural or synthetic chemical compounds that interfere with normal endocrine function in both wildlife and humans. Previous studies have indicated that EEDs may contribute to oncogenesis. This study explores the relationship between EEDs and pediatric germ cell tumors (GCTs). A case-control study was conducted in 84 pediatric patients from 2014 to 2017, including 42 subjects with immature teratoma, yolk sac tumor, or germinoma, and 42 controls who experienced pneumonia or trauma. Serum PFASs, including PFBS, PFHpA, PFHxS, PFOA, PFOS, PFNA, PFDA, PFUA, PFOSA, and PFDoA, were measured in each subject, and their history of possible EED exposure was reviewed. Six of the 10 measured PFASs were significantly increased in the GCT group relative to the control group. With respect to lifestyle history, only PFHxS levels were statistically significantly associated with GCTs as determined by logistic regression analysis. The odds ratio for a 1 ng/L increase in PFHxS was 19.47 (95% CI: 4.20-90.26). Furthermore, in the GCT and control groups, both parental consumption of barbecued foods and hair dye use among parents were significantly correlated with elevated serum PFHxS levels (ρ = 0.383, 0.325 in the patient group and ρ = 0.370, 0.339 in the control group; p < 0.05). Our study confirmed that children with GCTs from our institute had relatively high serum levels of PFASs relative to those of tumor-free pediatric patients. Serum PFHxS levels were independently associated with germ cell tumor occurrence.
Asunto(s)
Disruptores Endocrinos/sangre , Fluorocarburos/sangre , Neoplasias de Células Germinales y Embrionarias/sangre , Efectos Tardíos de la Exposición Prenatal/sangre , Estudios de Casos y Controles , Preescolar , Tumor del Seno Endodérmico/sangre , Tumor del Seno Endodérmico/epidemiología , Exposición a Riesgos Ambientales , Femenino , Germinoma/sangre , Germinoma/epidemiología , Humanos , Lactante , Masculino , Exposición Materna , Neoplasias de Células Germinales y Embrionarias/epidemiología , Embarazo , Efectos Tardíos de la Exposición Prenatal/epidemiología , Teratoma/sangre , Teratoma/epidemiologíaRESUMEN
Prostatic yolk sac tumour is a germ cell tumour with a wide range of age of occurrence, unusual anatomic locations, diverse morphologic patterns, and aggressive biologic behavior, posing challenges both to diagnosis and clinical management. We report a rare case of primary yolk sac tumour of the prostate with extensive local and liver metastasis, the latter of which exhibited sheets of small blue cells expressing CD99 and focal sall4 on biopsy. Positivity for CD99 and gata3 in the initial biopsy raised the differential diagnosis of Ewing sarcoma and poorly differentiated carcinoma. The primary tumour demonstrated an admixture of solid and glandular growth patterns and occasional Schiller-Duval bodies. A panel of immunohistochemical stains showing positivity for AE1/3, sall4, cdx2, and focal alpha-fetoprotein, and negativity for oct-4, facilitated the diagnosis. A thorough review of the literature and our current report indicate that a large tumour load, incomplete tumour resection, limited response to preoperative neoadjuvant chemotherapy, and late stage of the disease are predictive factors for a poor clinical outcome.
Asunto(s)
Tumor del Seno Endodérmico , Neoplasias Hepáticas , Neoplasias de Células Germinales y Embrionarias , Neoplasias de la Próstata , Adulto , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapéutico , Tumor del Seno Endodérmico/sangre , Tumor del Seno Endodérmico/diagnóstico por imagen , Tumor del Seno Endodérmico/patología , Tumor del Seno Endodérmico/terapia , Resultado Fatal , Humanos , Neoplasias Hepáticas/sangre , Neoplasias Hepáticas/diagnóstico , Neoplasias Hepáticas/secundario , Neoplasias Hepáticas/terapia , Masculino , Terapia Neoadyuvante , Neoplasias de Células Germinales y Embrionarias/sangre , Neoplasias de Células Germinales y Embrionarias/diagnóstico por imagen , Neoplasias de Células Germinales y Embrionarias/patología , Neoplasias de Células Germinales y Embrionarias/terapia , Neoplasias de la Próstata/sangre , Neoplasias de la Próstata/diagnóstico por imagen , Neoplasias de la Próstata/patología , Neoplasias de la Próstata/terapia , Trasplante de Células Madre , Tomografía Computarizada por Rayos X , alfa-Fetoproteínas/análisisRESUMEN
This is a case report of an endodermal sinus tumour arising in the stomach of a 1 1/2 years male child. The tumour occupied full thickness of fundus and part of the body of the stomach. H&E sections of the tumour tissue showed endodermal sinus tumour with predominantly reticular and endodermal sinus patterns. Elevated level of alpha-fetoprotien was detected in the serum of the patient and within the tumour tissue by immunohistochemical technique.
Asunto(s)
Tumor del Seno Endodérmico/patología , Neoplasias Gástricas/patología , Diagnóstico Diferencial , Tumor del Seno Endodérmico/sangre , Tumor del Seno Endodérmico/terapia , Humanos , Lactante , Masculino , Neoplasias Gástricas/sangre , Neoplasias Gástricas/terapia , alfa-Fetoproteínas/metabolismoRESUMEN
CONTEXT: Pituitary microadenomas and adrenal tumours are the most common causes for endogenous Cushing syndrome (CS) in children. CASE DESCRIPTION: We describe a two-year old girl with Cushing syndrome due to ectopic pro-opiomelanocortin (POMC) production from an abdominal yolk sac tumor. Cortisol concentrations were elevated but adrenocorticotropic hormone (ACTH) concentrations were equivocal. The use of antibodies specifically detecting ACTH precursors revealed that plasma ACTH precursors were elevated. Additionally, an ACTH assay with a low cross-reactivity for precursors showed low concentrations of ACTH. Immunohistochemistry suggested POMC but not ACTH production by the tumour. CONCLUSION: We describe a yolk sac tumour as a novel source of ectopic POMC production leading to CS in a young girl.
Asunto(s)
Neoplasias Abdominales/complicaciones , Síndrome de Cushing/etiología , Tumor del Seno Endodérmico/complicaciones , Proopiomelanocortina/metabolismo , Neoplasias Abdominales/sangre , Neoplasias Abdominales/metabolismo , Hormona Adrenocorticotrópica/sangre , Preescolar , Síndrome de Cushing/sangre , Tumor del Seno Endodérmico/sangre , Tumor del Seno Endodérmico/metabolismo , Femenino , HumanosRESUMEN
Lectin-affinity electrophoretic separation of serum alpha-fetoprotein (AFP) was carried out using AFP Differentiation Kits, which used Lens culinaris agglutinin-A (Kit L) and erythroagglutinating phytohemagglutinin (Kit P). Separated AFP bands were detected with a sensitive antibody-affinity blotting technique and determined quantitatively by densitometry, and the results were expressed as percentages of the intensity of total AFP bands. Sera from 424 patients with acute hepatitis, chronic hepatitis, liver cirrhosis, hepatocellular carcinoma, and extrahepatic tumors were assayed for proportion of AFP present as Lens culinaris agglutinin-A-reactive AFP (AFP-L3) and erythroagglutinating phytohemagglutinin-reactive AFPs (AFP-P4+P5). From the maximum Youden indices determined, cutoff levels were set at 15% for both AFP-L3 and AFP-P4+P5 to discriminate between patients with chronic hepatitis and liver cirrhosis and patients with hepatocellular carcinoma. AFP-L3 and AFP-P4+P5 showed sensitivities of 55.3 and 61.0% at specificities of 93.9% and 82.3%, respectively. Thirty-eight % of tumors that measured less than 20 mm in diameter were positive for AFP-L3 and AFP-P4+P5. AFP-L3 exceeded the cutoff level of 15% 4.0 +/- 4.9 months before detection of hepatocellular carcinomas by imaging techniques with a sensitivity of 48% and a specificity of 81%. Thus, these tests are useful for the early detection of hepatocellular carcinomas in patients with hepatitis or liver cirrhosis.
Asunto(s)
Carcinoma Hepatocelular/química , Tumor del Seno Endodérmico/química , Neoplasias Gastrointestinales/química , Hepatitis Viral Humana , Cirrosis Hepática , Neoplasias Hepáticas/química , alfa-Fetoproteínas/análisis , Carcinoma Hepatocelular/sangre , Tumor del Seno Endodérmico/sangre , Femenino , Estudios de Seguimiento , Neoplasias Gastrointestinales/sangre , Hepatitis Viral Humana/sangre , Humanos , Lectinas , Cirrosis Hepática/sangre , Neoplasias Hepáticas/sangre , MasculinoRESUMEN
Malignant sacrococcygeal yolk sac tumor is a rare extra-gonadal germ cell tumor of infancy and childhood. We report the case of a 14-month-old white female infant with a rapidly growing supra-gluteal mass at first misdiagnosed as hemangioma after a clinical assessment. The lesion was then classified as extra-gonadal yolk sac tumor due to alarming ultrasound features, later confirmed at MRI and pathology. This report remarks the need of a rigorous methodology in the ultrasound exploration of the gluteal region.
Asunto(s)
Tumor del Seno Endodérmico/diagnóstico por imagen , Neoplasias Pélvicas/diagnóstico por imagen , Ultrasonografía , Nalgas/diagnóstico por imagen , Diagnóstico Diferencial , Errores Diagnósticos , Tumor del Seno Endodérmico/sangre , Tumor del Seno Endodérmico/tratamiento farmacológico , Tumor del Seno Endodérmico/cirugía , Femenino , Hemangioma/diagnóstico por imagen , Humanos , Lactante , Neoplasias Pélvicas/sangre , Neoplasias Pélvicas/tratamiento farmacológico , Neoplasias Pélvicas/cirugía , Región Sacrococcígea , Tomografía Computarizada por Rayos X , Ultrasonografía/métodosRESUMEN
Yolk sac tumors are testicular germ-cell tumors of the non-seminoma type. In cattle, this neoplasm is very rare and to date has only been described three times. In human males, it usually occurs in infants and children. Immunohistochemistry provides solid criteria for diagnostics. Especially present pathognomonic Schiller-Duval bodies are helpful for identification. In this report, a 32-day-old Holstein Friesian calf presented with a highly enlarged right testis. Sonographic examination was performed and blood samples were taken to measure testosterone and estrogen levels. Furthermore, the testis was surgically removed and macroscopically, histologically, and immunohistochemically examined which lead to the diagnosis of testicular yolk sac tumor. The second testis was descended until the age of nine months and histology revealed impaired spermatogenesis. This report provides the first sonographic images of bovine testicular yolk sac tumor as well as the first information about hormone levels in calves with this neoplasm. It also shows the importance to combine anamnesis, histomorphological, and immunohistochemical findings in order to diagnose yolk sac tumors when pathognomonic structures are not present.
Asunto(s)
Tumor del Seno Endodérmico/veterinaria , Neoplasias Testiculares/veterinaria , Testículo/patología , Animales , Bovinos , Tumor del Seno Endodérmico/sangre , Tumor del Seno Endodérmico/patología , Masculino , Espermatogénesis , Neoplasias Testiculares/sangre , Neoplasias Testiculares/patologíaRESUMEN
Patients who receive peripheral blood stem cell transplants are at risk of developing cancer recurrence due to the presence of malignant cells in the transplants. We investigated a sensitive method to detect malignant cells in the peripheral blood and peripheral blood stem cells of patients with testicular cancer using nested, reverse transcription-polymerase chain reaction (RT-PCR) to measure alpha-fetoprotein gene expression. Using this technique, a single cancer cell could be detected in 10(6) peripheral blood mononuclear cells. This is the first report of an attempt to detect circulating malignant cells in the peripheral blood of patients with testicular cancer by nested RT-PCR.
Asunto(s)
Neoplasias de Células Germinales y Embrionarias/patología , Células Neoplásicas Circulantes/patología , Neoplasias Testiculares/patología , Actinas/genética , Adulto , Carcinoma Embrionario/sangre , Carcinoma Embrionario/genética , Carcinoma Embrionario/patología , Carcinoma Hepatocelular/genética , Tumor del Seno Endodérmico/sangre , Tumor del Seno Endodérmico/genética , Tumor del Seno Endodérmico/patología , Expresión Génica , Germinoma/sangre , Germinoma/genética , Germinoma/patología , Trasplante de Células Madre Hematopoyéticas , Células Madre Hematopoyéticas/química , Células Madre Hematopoyéticas/patología , Humanos , Masculino , Persona de Mediana Edad , Monocitos/química , Neoplasias de Células Germinales y Embrionarias/sangre , Neoplasias de Células Germinales y Embrionarias/genética , ARN Mensajero/metabolismo , ARN Neoplásico/análisis , Reacción en Cadena de la Polimerasa de Transcriptasa Inversa , Sensibilidad y Especificidad , Teratoma/sangre , Teratoma/genética , Teratoma/patología , Neoplasias Testiculares/sangre , Neoplasias Testiculares/genética , Células Tumorales Cultivadas , alfa-Fetoproteínas/genéticaRESUMEN
The co-existence of an endometrioid adenocarcinoma with an ovarian yolk sac tumor is very rare. Only eight cases have been reported in the English language literature. A 54-year-old postmenopausal woman with a 6-month history of progressive abdominal distension was seen at our hospital. MR imaging revealed a large cyst with a solid intramural node. Serum alpha-fetoprotein and CA125 levels were 13143 ng/ml and 170 U/ml, respectively. At laparotomy, a large tumor approximately 20 cm in diameter was found to occupy the abdominal cavity, adhering to the swollen appendix and part of the omentum. Microscopically, foci of endometrioid adenocarcinoma together with a yolk sac tumor component were observed within a large endometriotic cyst. Since the tumor was clinically staged 1c, the patient was given 500 mg of intraperitoneal carboplatin postoperatively, followed by five courses of combination chemotherapy consisting of cisplatin, etoposide and peplomycin at 4-week intervals. The levels of both serum alpha-fetoprotein and CA 125 decreased gradually to normal ranges and remained normal at the most recent follow-up on 29 December, 2001. In contrast to a very poor prognosis of this tumor in previously reported cases, our patient showed no sign of recurrence during a 21-month follow-up period.
Asunto(s)
Carcinoma Endometrioide/patología , Tumor del Seno Endodérmico/patología , Neoplasias Primarias Múltiples/patología , Neoplasias Ováricas/patología , Antígenos de Carbohidratos Asociados a Tumores/análisis , Biomarcadores de Tumor/análisis , Carcinoma Endometrioide/sangre , Tumor del Seno Endodérmico/sangre , Femenino , Humanos , Inmunohistoquímica , Persona de Mediana Edad , Neoplasias Primarias Múltiples/sangre , Neoplasias Ováricas/sangre , Posmenopausia , alfa-Fetoproteínas/análisisRESUMEN
Primary yolk sac tumour of the liver is exceedingly rare. A 28 year old woman presented with a cystic liver mass and a markedly raised serum alpha-fetoprotein concentration. She underwent a partial hepatectomy for a suspected hepatocellular carcinoma but histological examination of the tumour revealed the classical morphological and immunohistochemical features of a yolk sac tumour. There was no evidence of an extrahepatic primary source. Review of this case, together with the six previously reported adult cases of primary yolk sac tumours of the liver, revealed several features of the tumour that may aid differentiation from hepatocellular carcinoma, with potential therapeutic implications.