ABSTRACT: ALK-TPM3 rearrangement in adult renal cell carcinoma: report of a novel case showing misleading TFE3 expression and loss of chromosome 3 and literature review
Project description:We report a case of a 55 years old women who present a ALK associated renal cell carcinoma, with 3p deletion and measling of TFE3 expression. With CGH analysis and FISH we identify the rearrangment of ALK with TPM3
Project description:Microphtalmia-associated-transcriptional-factor-family translocation renal cell carcinoma (MiTF-tRCC) currently includes two main subtypes: “TFEB-tRCC” most often characterized by a t(6;11)(p21;q13) that generates a fusion of TFEB with MALAT1 and “TFE3-tRCC” characterized by rearrangements of TFE3 at Xp11.23 (2-3) that produce a variety of fusion genes. FISH is a handy method in routine practice that allows the detection of a rearrangement of TFE3. However, it reaches its limits in cases of micro-inversions or insertions: in fact paracentric microinversions that involve GRIPAP1 (Xp11.23) (23, Classe) or RBM10 (Xp11.3), very close to TFE3 , are most often undetectable.We report the clinical, immunohistological, genomic and molecular description of four novel TFE3-tRCC with RBM10-TFE3 fusion detected by targeted RNASeq analysis that illustrate the difficulties of diagnosis, especially in reason of disconcerting negative TFE3 FISH results.
Project description:Rapidly and Reconditely Progressing Small Cell Lung Cancer with Invasive Pulmonary Aspergillosis: A Case Report and Literature Review
| PRJEB44259 | ENA
Project description:Fungal keratitis caused by Colletotrichum dematium – case study and review of literature
| PRJEB28126 | ENA
Project description:First detection in Helicobacter suis of a mutation conferring resistance to clarithromycin in Helicobacter pylori: case report and review of the literature
| PRJNA554557 | ENA
Project description:Identification of a novel KAT6A variant in an infant presenting with facial dysmorphism and developmental delay: a case report and literature review
| PRJNA788062 | ENA
Project description:Are virulence and therapeutic efficacy of Catabacter hongkongensis bacteremias associated to phylogeny ? Case report of a French patient and review of the literature.
