Renal angiomyolipoma: Clinico-pathologic study of 17 cases with emphasis on the epithelioid histology and p53 gene abnormalities.

BACKGROUND: Epithelioid angiomyolipoma (EAML) is a rare potentially malignant variant of renal angiomyolipoma (RAML). This study aims to determine whether RAML clinico-pathologic and molecular features (i.e. p53 gene abnormalities) differ significantly with regards to its histologic variant or to the presence of an epithelioid component within it. METHODS: Consecutively resected RAML were reviewed, tumours comprising at least 80% of epithelioid cells were considered as EAML according to the 2016 World Health Organization classification of tumours of the kidney. P53 gene abnormalities were investigated using both immunohistochemical and molecular analysis. RESULTS: A total of 3 EAML among 17 RAML were identified, accounting for 3.9% of the total AML cases. Fatty aspect on imaging was more observed within tumours devoid of an epithelioid component. EAML showed a higher mitotic rate and a stronger p53 staining, no renal poles involvement and was not treated by nephron sparing surgeries. RAML comprising an epithelioid component demonstrated severer nuclear atypia as well as stronger p53 staining. P53 gene sequencing revealed a missense mutation (c.747G > C) in one classic AML harbouring a strong labelling with p53. CONCLUSIONS: Strong p53 staining in a RAML, even in the absence of gene mutation, may suggest the presence of an epithelioid component or of a truly EAML. To the best of our knowledge, c.747G > C p53 gene mutation is being reported for the first time in a RAML, although its role in AML pathogenesis is still unknown.

Left-sided congenital heart lesions in mosaic Turner syndrome.

In the era of the diseasomes and interactome networks, linking genetics with phenotypic traits in Turner syndrome should be studied thoroughly. As a part of this stratagem, mosaicism of both X and Y chromosome which is a common finding in TS and an evaluation of congenital heart diseases in the different situations of mosaic TS types, can be helpful in the identification of disturbed sex chromosomes, genes and signaling pathway actors. Here we report the case of a mosaic TS associated to four left-sided CHD, including BAV, COA, aortic aneurysms and dissections at an early age. The mosaicism included two cell lines, well-defined at the cytogenetic and molecular levels: a cell line which is monosomic for Xp and Xq genes (45,X) and another which is trisomic for pseudoautosomal genes that are present on the X and Y chromosomes and escape X inactivation: 45,X[8]/46,X,idic(Y)(pter→q11.2::q11.2→pter)[42]. This case generates two hypotheses about the contribution of genes linked to the sex chromosomes and the signaling pathways involving these genes, in left-sided heart diseases. The first hypothesis suggests the interaction between X chromosome and autosomal genes or loci of aortic development, possibly dose-dependent, and which could be in the framework of TGF-ß-SMAD signaling pathways. The second implies that left-sided congenital heart lesions involve sex chromosomes loci. The reduced dosage of X chromosome gene(s), escaping X inactivation during development, contributes to this type of CHD. Regarding our case, these X chromosome genes may have homologues at the Y chromosome, but the process of inactivation of the centromeres of the isodicentric Y spreads to the concerned Y chromosome genes. Therefore, this case emerges as an invitation to consider the mosaics of Turner syndrome and to study their phenotypes in correlation with their genotypes to discover the underlying developmental and genetic mechanisms, especially the ones related to sex chromosomes.

Laparoscopic treatment of a cystic pheochromocytoma of 6cms: A challenging case.

Cystic pheochromocytoma is a very rare entity.Preoperative diagnosis is difficult because clinical, biochemical and radiologic findings are usually not consistent with a pheochromocytoma.Open surgery is traditionally the gold standard to avoid cyst rupture.we present a case of a 6 cm cystic pheochromocytoma treated by laparoscopy.

Prognostic Role of Lymphovascular Invasion in Patients with Urothelial Carcinoma of the Upper Urinary Tract.

PURPOSE: To evaluate the impact of lymphovascular invasion on the prognosis of patients treated for upper urinary tract urothelial carcinomas. MATERIALS AND METHODS: Clinical records of 49 patients treated surgically at our institute for upper urinary tract urothelial carcinomas were reviewed retrospectively. LVI was defined as the presence of cancer cells within an endotheluim-lined space without underlying muscular walls. Actuarial survival curves were analysed by Kaplan-Meier method. Multivariate analysis was performed using Cox's proportional hazard model. RESULTS: Median follow-up was 32 months. Lymphovascular invasion was present in 26 (53%) patients. Lymphovascular invasion was associated with higher pathological tumor stage (pT) and higher tumor grade. The disease-free and overall survival rates of the patients with lymphovascular invasion were significantly worse than those of the patients without lymphovascular invasion (p < 0.001 and p = 0.027 respectively). Multivariate analysis revealed that lymphovascular invasion as well as tumor grade and pathological tumor stage were significant prognosticfactors for disease-free and overall survival. CONCLUSION: The presence of lymphovascular invasion was a strong predictor of a poor outcome for UTUC. This finding could help identify patients at greater risk for disease recurrence who would benefit from close follow-up and early adjuvant therapy.