High frequency of beta-catenin mutations in borderline endometrioid tumours of the ovary.

Some low-grade endometrioid carcinomas arise from a background of endometrioid tumours of borderline malignancy. To determine the molecular mechanisms involved in the initiation of endometrioid carcinoma, the present study investigated whether the genetic alterations reported in these tumours (mutations in PTEN, KRAS, and beta-catenin genes, and microsatellite instability) are already present in endometrioid tumours of borderline malignancy. Eight endometrioid tumours of borderline malignancy were studied. By immunohistochemistry, beta-catenin was expressed in the nuclei of all tumours, suggesting the presence of stabilizing beta-catenin mutations. By mutational analysis, five different beta-catenin mutations were found in seven of eight cases (90%), affecting codons 32, 33, and 37. In contrast, only one tumour harboured a PTEN mutation, which affected codon 130. Neither KRAS mutations nor microsatellite instability was detected. A review of the literature indicated that beta-catenin mutations are characteristic of well-differentiated endometrioid carcinomas, since they were present in nearly 60% of grade I but in less of 3% of grade III tumours. In conclusion, the present study identifies beta-catenin mutation as a nearly constant molecular alteration in borderline endometrioid tumours, whereas PTEN and KRAS mutations and microsatellite instability are very infrequent. The findings in the present study, and previously reported data, strongly suggest that beta-catenin mutation is an early event in endometrioid ovarian carcinogenesis, and that it is involved in the development of low-grade endometrioid tumours.

[Minor malformations and variations from normality at birth. II: Minor body anomalies excluding craniofacial anomalies]. / Malformaciones menores y variantes de la normalidad al nacimiento. II: Anomalías menores corporales con exclusión de las craneofaciales.

Authors studied in a total of 189 newborns, incidence of minor and variant malformation normalities, excluding craniofacial ones (already analyzed in a previous paper). After grouping the results in different corporal zones where these could be found, they find a greater incidence, in the cutaneous system and less in other corporeal areas. Since results differ mainly from those which already exist, therefore, they think that new studies are necessary in distinct geographic areas due to variation o their incidence in them.

[Minor malformations and variants of normality at birth. I: Minor craniofacial anomalies]. / Malformaciones menores y variantes de la normalidad al nacimiento. I: Anomalías menores craneofaciales.

Authors have studied the presence of minor variant malformations of craniofacial normalities in 189 newborns. Results were grouped according to different anatomical areas where they settled. They have found a greater expressiveness of minor anomalies and, above all, in the auricular external car and, in minor proportion, in the nose and ocular orbs. Results are similar in some cases with the scarce preexistent data, but they differ meaningly with others; maybe that this is produced by the own distinct geographic areas variations.