ABSTRACT
UNLABELLED: The aim of this study was to look at the impact of the number of sites with tumour involvement on outcome for patients with stage IIIA endometrioid-type endometrial carcinoma. PATIENTS AND METHODS: 141 patients stage IIIA were included. A central histopathological review was performed. Patients staged solely on the presence of a positive peritoneal washing were excluded. Follow-up ranged from 2 to 217 months with a median of 43 months. Endpoints of the study were locoregional recurrence rates, distant metastasis-free survival (DMFS), disease-free survival (DFS) and disease-specific survival (DSS). RESULTS: In multivariate analyses the number of involved sites showed to be the only independent significant variable for DMFS, DFS, and DSS with a Hazard Ratio of 2.1, 2.2, and 2.2, respectively. The DSS was significantly related to the number of involved sites, with a 5-year DSS of 70.4% for one site, 42.8% for two sites, and 43.9% for three sites, respectively (p=0.001). CONCLUSION: The number of involved sites outside the corpus uterine for stage IIIA seems to be a strong negative prognostic factor for stage IIIA endometrial carcinoma.
Subject(s)
Carcinoma, Endometrioid/secondary , Endometrial Neoplasms/pathology , Adult , Aged , Aged, 80 and over , Carcinoma, Endometrioid/pathology , Carcinoma, Endometrioid/radiotherapy , Carcinoma, Endometrioid/surgery , Combined Modality Therapy , Disease-Free Survival , Endometrial Neoplasms/radiotherapy , Endometrial Neoplasms/surgery , Female , Humans , Middle Aged , Neoplasm Metastasis , Neoplasm Recurrence, Local/pathology , Neoplasm StagingABSTRACT
Multiple pterygium syndromes (MPS) comprise a group of multiple congenital anomaly disorders characterized by webbing (pterygia) of the neck, elbows, and/or knees and joint contractures (arthrogryposis). MPS are phenotypically and genetically heterogeneous but are traditionally divided into prenatally lethal and nonlethal (Escobar) types. Previously, we and others reported that recessive mutations in the embryonal acetylcholine receptor g subunit (CHRNG) can cause both lethal and nonlethal MPS, thus demonstrating that pterygia resulted from fetal akinesia. We hypothesized that mutations in acetylcholine receptor-related genes might also result in a MPS/fetal akinesia phenotype and so we analyzed 15 cases of lethal MPS/fetal akinesia without CHRNG mutations for mutations in the CHRNA1, CHRNB1, CHRND, and rapsyn (RAPSN) genes. No CHRNA1, CHRNB1, or CHRND mutations were detected, but a homozygous RAPSN frameshift mutation, c.1177-1178delAA, was identified in a family with three children affected with lethal fetal akinesia sequence. Previously, RAPSN mutations have been reported in congenital myasthenia. Functional studies were consistent with the hypothesis that whereas incomplete loss of rapsyn function may cause congenital myasthenia, more severe loss of function can result in a lethal fetal akinesia phenotype.
Subject(s)
Abnormalities, Multiple/genetics , Fetal Diseases/genetics , Muscle Proteins/genetics , Receptors, Cholinergic/genetics , Receptors, Nicotinic/genetics , Amino Acid Sequence , Arthrogryposis/genetics , Base Sequence , Child , Humans , Molecular Sequence Data , Muscle Proteins/chemistry , SyndromeABSTRACT
Steroid cell tumours not otherwise specified are rare ovarian tumours, which can cause foetal and maternal virilisation. This is the first case report that describes a steroid cell tumour not otherwise specified during pregnancy. Differential diagnosis, a diagnostic work-up and treatment are discussed.
