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1.
Gynecol Oncol ; 160(3): 771-776, 2021 03.
Artículo en Inglés | MEDLINE | ID: mdl-33419609

RESUMEN

OBJECTIVE: In the Netherlands a nationwide guideline was introduced in 2016, which recommended routine Lynch syndrome screening (LSS) for all women with endometrial cancer (EC) <70 years of age. LSS consists of immunohistochemical (IHC) staining for loss of mismatch repair (MMR) protein expression, supplemented with MLH1 methylation analysis if indicated. Test results are evaluated by the treating gynaecologist, who refers eligible patients to a clinical geneticist. We evaluated the implementation of this guideline. METHODS: From the nation-wide pathology database we selected all women diagnosed with EC < 70 years of age, treated from 1.6.2016-1.6.2017 in 14 hospitals. We collected data on the results of LSS and follow up of cases with suspected LS. RESULTS: In 183 out of 204 tumours (90%) LSS was performed. In 41 cases (22%) MMR protein expression was lost, in 25 cases due to hypermethylation of the MLH1 promotor. One patient was known with a pathogenic MLH1 variant. The option of genetic counselling was discussed with 12 of the 15 remaining patients, of whom three declined. After counselling by the genetic counsellor nine patients underwent germline testing. In two no pathogenic germline variant was detected, two were diagnosed with a pathogenic PMS2 variant, and five with a pathogenic MSH6 variant, in concordance with the IHC profiles. CONCLUSION: Coverage of LSS was high (90%), though referral for genetic counselling could be improved. Gynaecologists ought to be aware of the benefits and possible drawbacks of knowing mutational status, and require training in discussing this with their patients.


Asunto(s)
Neoplasias Colorrectales Hereditarias sin Poliposis/etiología , Neoplasias Endometriales/complicaciones , Inmunohistoquímica/métodos , Anciano , Neoplasias Colorrectales Hereditarias sin Poliposis/patología , Neoplasias Endometriales/patología , Femenino , Predisposición Genética a la Enfermedad , Humanos , Persona de Mediana Edad , Países Bajos
2.
Ann Oncol ; 24(8): 2036-42, 2013 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-23543211

RESUMEN

BACKGROUND: Recent studies suggested an improved overall survival (OS) for BRCA2- versus BRCA1-associated epithelial ovarian cancer (EOC), whereas the impact of chemotherapy is not yet clear. In a nationwide cohort, we examined the results of primary treatment, progression-free survival (PFS), treatment-free interval (TFI), and OS of BRCA1 versus BRCA2 EOC patients. METHODS: Two hundred and forty-five BRCA1- and 99 BRCA2-associated EOC patients were identified through all Dutch university hospitals. Analyses were carried out with the Pearson's Chi-square test, Kaplan-Meier, and Cox regression methods. RESULTS: BRCA1 patients were younger at EOC diagnosis than BRCA2 patients (51 versus 55 years; P < 0.001), without differences regarding histology, tumor grade, and International Federation of Gynecology and Obstetrics (FIGO) stage. Complete response rates after primary treatment, including chemotherapy, did not differ between BRCA1 (86%) and BRCA2 patients (90%). BRCA1 versus BRCA2 patients had a shorter PFS (median 2.2 versus 3.9 years, respectively; P = 0.006), TFI (median 1.7 versus 2.8 years; P = 0.009), and OS (median 6.0 versus 9.7 years; P = 0.04). Differences could not be explained by age at diagnosis, FIGO stage or type of treatment. CONCLUSIONS: PFS and OS were substantially longer in BRCA2- than in BRCA1-associated EOC patients. While response rates after primary treatment were similarly high in both groups, TFI, as surrogate for chemosensitivity, was significantly longer in BRCA2 patients.


Asunto(s)
Proteína BRCA1/genética , Proteína BRCA2/genética , Neoplasias Glandulares y Epiteliales/genética , Neoplasias Glandulares y Epiteliales/mortalidad , Neoplasias Ováricas/genética , Neoplasias Ováricas/mortalidad , Adulto , Anciano , Antineoplásicos Fitogénicos/uso terapéutico , Carcinoma Epitelial de Ovario , Supervivencia sin Enfermedad , Femenino , Humanos , Persona de Mediana Edad , Neoplasias Glandulares y Epiteliales/tratamiento farmacológico , Neoplasias Glandulares y Epiteliales/cirugía , Países Bajos , Neoplasias Ováricas/tratamiento farmacológico , Neoplasias Ováricas/cirugía , Paclitaxel/uso terapéutico , Compuestos de Platino/uso terapéutico , Sobrevida , Resultado del Tratamiento
3.
Ann Oncol ; 22(6): 1346-1352, 2011 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-21228333

RESUMEN

BACKGROUND: Because it is insufficiently clear whether BRCA-associated epithelial ovarian cancer (EOC) is more chemosensitive than sporadic EOC, we examined response to chemotherapy, progression-free survival (PFS) and overall survival (OS) in BRCA1- and BRCA2-associated versus sporadic EOC patients. METHODS: Data about patient characteristics, response to and outcome after primary therapy, including chemotherapy, were collected from 99 BRCA1, 13 BRCA2 and 222 sporadic patients. Analyses were carried out using a chi-square test and Kaplan-Meier and Cox regression methods. RESULTS: Complete response (CR) or no evidence of disease (NED) was observed in 87% of the BRCA1 patients, progressive disease (PD) in 2%, being 71% and 15%, respectively, in sporadic EOC patients (P = 0.002). In BRCA2 patients, 92% had CR/NED, and none PD (P = 0.27). Median PFS in BRCA1, BRCA2 and sporadic patients was 2.1 [95% confidence interval (CI) 1.9-2.5] years (P = 0.006), 5.6 (95% CI 0.0-11.5) years (P = 0.008) and 1.3 (95% CI 1.1-1.5) years, respectively. Median OS in the three groups was 5.9 (95% CI 4.7-7.0) years (P < 0.001), >10 years (P = 0.008), and 2.9 (95% CI 2.2-3.5) years, respectively. A trend for a longer PFS and OS in BRCA2 compared with BRCA1 patients was observed. CONCLUSION: Compared with sporadic EOC patients, both BRCA1- and BRCA2-associated patients have improved outcomes after primary therapy, including chemotherapy.


Asunto(s)
Antineoplásicos/uso terapéutico , Proteína BRCA1/genética , Proteína BRCA2/genética , Neoplasias Ováricas/tratamiento farmacológico , Adulto , Anciano , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapéutico , Supervivencia sin Enfermedad , Femenino , Humanos , Persona de Mediana Edad , Neoplasias Ováricas/genética , Resultado del Tratamiento
4.
J Matern Fetal Neonatal Med ; 20(8): 599-603, 2007 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-17674277

RESUMEN

OBJECTIVE: To compare the difference in neonatal mortality and morbidity between breech and cephalic presentations at term. METHODS: This was a retrospective matched cohort study in two centers between July 1998 and April 2000, including all breech deliveries between 37(+0) and 41(+6) weeks, except cases with multiple gestations and antepartum intrauterine deaths. All breech presentations were matched with two cephalic presentations. Onset of labor and route of delivery were recorded, and neonatal data were categorized into variables belonging to serious morbidity or moderate morbidity. RESULTS: One thousand one hundred and nineteen deliveries were included. Three hundred and seventy-three babies were in breech position and 746 in cephalic position. The gestational age and birth weight of the babies in the breech group were lower than in the cephalic group (p < 0.001). Congenital abnormalities occurred more often in the breech group (p < 0.005). An elective cesarean section was performed in 23.3% of breech presentations versus 3.5% of cephalic presentations (p < 0.001). Emergency cesarean sections were done in 29.2% of breech presentations versus 8.8% of cephalic presentations (p < 0.001). Children born in breech presentation had lower Apgar scores after 1 minute (p < 0.0001), but 5-minute Apgar scores were the same in both groups (p = 0.22). Children born in breech presentation received significantly more resuscitation than children born in cephalic presentation (p < 0.001). In both groups no perinatal mortality occurred. No differences were observed in percentages of children with serious or moderate neonatal morbidity between the breech and cephalic lies. CONCLUSIONS: Although the numbers are small, this study shows that the conservative (vaginal) approach in selected fetuses in breech position can be safely pursued with neonatal results similar to fetuses in cephalic presentation.


Asunto(s)
Presentación de Nalgas/terapia , Adulto , Puntaje de Apgar , Peso al Nacer , Cesárea/estadística & datos numéricos , Anomalías Congénitas/epidemiología , Femenino , Edad Gestacional , Humanos , Recién Nacido , Inicio del Trabajo de Parto , Masculino , Evaluación de Resultado en la Atención de Salud , Embarazo , Resucitación/estadística & datos numéricos , Estudios Retrospectivos , Distribución por Sexo , Extracción Obstétrica por Aspiración/estadística & datos numéricos
5.
J Clin Pathol ; 59(12): 1307-8, 2006 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-17142572

RESUMEN

Epithelioid trophoblastic tumour (ETT) is an unusual type of trophoblastic tumour, which can cause difficulties in diagnosis and (as a consequence) in treatment. The literature suggests that surgery should be the treatment of choice for ETT as it is not responsive to chemotherapeutic agents, used in the treatment of other types of gestational trophoblastic diseases. This case report describes an ETT, which was initially diagnosed as a carcinoma of the cervix. Surgical management was chosen based on the literature. 6 months later the patient also developed a plasmacytoma and was treated with radiotherapy. The occurrence of ETT and plasmacytoma in combination has never been described before. This case report describes a rare case of an atypical trophoblastic tumour, with problematic differential diagnosis. Treatment of carcinoma of the cervix would have necessitated postoperative radiotherapy, but on diagnosis of ETT, surgical management was considered sufficient. Hence, it is important to consider the occurrence of ETTs, although rare, in patients with atypical cervical or endometrial cancer, and in patients diagnosed with a gestational trophoblastic tumour, who do not respond to appropriate chemotherapy.


Asunto(s)
Neoplasias Trofoblásticas/patología , Neoplasias Uterinas/patología , Adulto , Diagnóstico Diferencial , Femenino , Humanos , Neoplasias Primarias Secundarias/patología , Plasmacitoma/patología , Neoplasias del Cuello Uterino/patología
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