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Title: ALK-rearranged renal cell carcinoma with TPM3::ALK gene fusion and review of the literature.
Austin Authors: Galea, Laurence A;Hildebrand, Michael S ;Witkowski, Tom ;Joy, Christopher;McEvoy, Christopher R;Hanegbi, Uri;Aga, Ahmad
Affiliation: Department of Anatomical Pathology, Melbourne Pathology, Sonic Healthcare, Private Bag 5, Collingwood, VIC, 3066, Australia.
Epilepsy Research Centre
Medicine (University of Melbourne)
Department of Cytogenetics, Sullivan Nicolaides Pathology, Sonic Healthcare, Brisbane, QLD, Australia.
Department of Pathology, Peter MacCallum Cancer Centre, Melbourne, VIC, Australia.
Australian Urology Associates, Malvern, Melbourne, VIC, Australia.
Department of Anatomical Pathology, Cabrini Pathology, Sonic Healthcare, Melbourne, VIC, Australia.
Issue Date: Mar-2023
Date: 2022
Publication information: Virchows Archiv : an international journal of pathology 2023; 482(3)
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.
DOI: 10.1007/s00428-022-03451-z
ORCID: 0000-0001-7968-1846
Journal: Virchows Archiv : An International Journal of Pathology
PubMed URL: 36370168
ISSN: 1432-2307
Type: Journal Article
Subjects: ALK
ALK-rearranged renal cell carcinoma
D5F3 clone
Appears in Collections:Journal articles

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