I had a colleague from private practice ask me if I ever make a diagnosis of RCC with leiomyomatous stroma (RCCLMS). I thought this would be a good time to share an example. Continued π
An excellent summary of the molecular findings was published this mth in AJSP by @rajalbshah & @Kiril_T_Can suggests that these are unique tumors that harbor mutations in the TSC, MTOR and ELOC (TCEB) genes and are distinct CCRCC. Diffuse expression of CK7 is key.
These are sporadic counterparts of similar tumors seen in the setting of TSC. I have seen several cases like this and there was not a consensus on what these should be classified as. I like this terminology and will be using this in my practice. cc: @SurenaMatinMD
Reference:
"Renal Cell Carcinoma With Leiomyomatous Stroma" Harbor Somatic Mutations of TSC1, TSC2, MTOR, and/or ELOC (TCEB1): Clinicopathologic and Molecular... - PubMed - NCBI ncbi.nlm.nih.gov/pubmed/31850909
Renal bx from a woman in her late 50s, with a renal mass and metastasis. This biopsy is from the kidney. This was a highly infiltrative, high grade tumor with a desmoplastic background. Continued π #GUpath
The referring institute reported + PAX8, CK7, - GATA3, CK20, TTF1. O/S diagnosis was collecting duct carcinoma.
Upon review by us, we realized that the pt was AA and ordered an INI-1 which was negative.
Diagnosis: Renal medullary carcinoma (confirmed by Hb electophoresis) π
True CDC of the kidney is extremely rare and is a diagnosis of exclusion. All tumors that look like a high grade adenoca, automatically get an INI-1. (I always exclude Uca and mets.)
RMC is usually a disease in younger pts, but can present at any age. #GUpath@PavlosMsaouel π
Continuing yesterdays theme. Renal bx from a mass in a 55 yo. This one showed more stroma and the nuclei lining the cysts were less "ugly". Continued π#GUpath
Mass was resected and was <4 cm and well circumscribed. π
Always run an FH stain (pic) on anything that looks tubulocystic . This was also positive for CK7, P504S and neg for CAIX and CD117.
Incidental renal mass. Stains and diagnosis π#GUpath
PAX8 (highlighting epithelium) and HMB45 (stains stromal component).
Diagnosis: Angiomyolipoma with epithelial cysts (AMLEC) ER highlights condensed subepithelial stroma below the cyst epithelium. Cystic change may be very focal or extensive. Pay attention, especially on biopsies, for a cyst lining. #GUpath