ALK-rearranged renal cell carcinoma with TPM3::ALK gene fusion and review of the literature
- Author(s)
- Galea, LA; Hildebrand, MS; Witkowski, T; Joy, C; McEvoy, CR; Hanegbi, U; Aga, A;
- Details
- Publication Year 2023-03,Volume 482,Issue #3,Page 625-633
- Journal Title
- Virchows Archiv
- Publication Type
- Review
- Abstract
- ALK-rearranged renal cell carcinoma (ALK-RCC) is a very rare novel molecularly defined entity in the recently published fifth edition of the World Health Organization classification of tumours. We describe a case of ALK-RCC in a 76-year-old female. The tumour was composed of discohesive rhabdoid cells and pleomorphic, multinucleated cells (equivalent to ISUP/WHO grade 4). The tumour showed expression with PAX8, Keratin 7 and alpha methylacyl CoA racemase. ALK (D5F3 clone) was strongly and diffusely positive. ALK-FISH showed significant split signals of ALK, confirming the diagnosis. RNA sequencing showed TPM3::ALK rearrangement. Including the current case, there are 14 reported ALK-RCC cases with the same TPM3 fusion partner gene. Review of these published cases highlights their morphological heterogeneity and stresses the importance of running ALK immunohistochemistry on difficult cases to classify renal tumours. This is important while identification of ALK-RCC has clinical significance due to the availability of targeted therapy with ALK inhibitors.
- Publisher
- Springer Nature
- Keywords
- Female; Humans; *Carcinoma, Renal Cell/pathology; Gene Fusion; Gene Rearrangement; Immunohistochemistry; In Situ Hybridization, Fluorescence; *Kidney Neoplasms/pathology; Tropomyosin/genetics; Aged; Alk; ALK-rearranged renal cell carcinoma; D5F3 clone; Rhabdoid; Tpm3
- Department(s)
- Pathology
- PubMed ID
- 36370168
- Publisher's Version
- https://doi.org/10.1007/s00428-022-03451-z
- Terms of Use/Rights Notice
- Refer to copyright notice on published article.
Creation Date: 2023-06-27 07:58:55
Last Modified: 2023-06-27 07:59:22