RESUMO
Here, we present a case that highlights the crucial pitfalls related to the presence of morular metaplasia (MM) in endometrioid carcinoma, which are insufficiently recognized in the routine pathology practice. A 45-year-old woman underwent hysterectomy with rectosigmoidectomy due to a 11-cm mass involving uterus, right ovary, and rectosigmoid colon. Histologically, the lesion appeared as a predominantly solid carcinoma with a minor glandular component. Results of the first immunohistochemical analysis suggested a colorectal origin (PAX8-, CK7-, WT1-, hormone receptors-, and CDX2+ in the absence of mucinous features). Subsequent immunohistochemistry (nuclear ß-catenin+, CD10+, and low ki67 in the solid areas) supported a diagnosis of endometrioid carcinoma with diffuse MM. This case remarks that morphological and immunohistochemical features of MM may conceal the glandular architecture and the typical immunophenotype of endometrioid carcinomas. Acknowledging the diagnostic issues related to MM appears crucial to avoid misdiagnosis and inappropriate patient management.
Assuntos
Carcinoma Endometrioide/diagnóstico , Neoplasias Ovarianas/diagnóstico , Biomarcadores Tumorais/análise , Diagnóstico Diferencial , Feminino , Humanos , Imuno-Histoquímica , Metaplasia , Pessoa de Meia-IdadeRESUMO
BACKGROUND: Endometrial undifferentiated/dedifferentiated carcinoma (UDC/DDC) is a recently described aggressive variant of endometrial carcinoma, which shows mismatch repair (MMR) deficiency in about half of cases. AIM: To assess whether MMR-deficient UDC/DDC have distinct clinico-pathological features. MATERIALS AND METHODS: A systematic review and meta-analysis was performed by searching 4 electronic databases from their inception to October 2020 for all studies reporting clinicopathological characteristics of UDC/DDC series. Student t-test (for continuous variables), Cox regression analysis (for overall survival) and odds ratio (OR, for dichotomous variables) were used with a significant p-value < 0.05; data were pooled by using a random effect model. RESULTS: Twelve studies were included. MMR-deficiency was significantly associated with older age (p = 0.024), p53-wild-type (p = 0.005), ARID1A loss (p = 0.001) and PD-L1 expression (p = 0.019), but not with overall survival (p = 0.307), extension beyond corpus (p = 0.787) or beyond uterus (p = 0.403), presence of a differentiated component (p = 0.461), loss of expression of cytokeratins (p = 0.698), EMA (p = 0.309), estrogen receptor (p = 0.605), PAX8 (p = 0.959), SMARCA4/BRG1 (p = 0.321), SMARCB1/INI1 (p = 0.225) or claudin-4 (p = 0.094), or POLE exonuclease domain mutation p = (0.773). CONCLUSIONS: In UDC/DDC, MMR-deficiency appears associated with older age, p53-wild type and ARID1A loss, suggesting the possibility of a distinct pathway underlying dedifferentiation; the association with PD-L1 expression is attributable to the high mutational load and may have therapeutic implications. On the other hand, MMR-deficiency appears not to be associated with prognosis, stage, loss of differentiation markers or POLE mutation.