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Recurrent KRASmutations are early events in the development of papillary renal neoplasm with reverse polarity
- Source :
- Modern Pathology; September 2022, Vol. 35 Issue: 9 p1279-1286, 8p
- Publication Year :
- 2022
-
Abstract
- We evaluated the clinicopathologic and molecular characteristics of mostly incidentally detected, small, papillary renal neoplasms with reverse polarity (PRNRP). The cohort comprised 50 PRNRP from 46 patients, divided into 2 groups. The clinically undetected (<5 mm) neoplasms (n= 34; 68%) had a median size of 1.1 mm (range 0.2–4.3 mm; mean 1.4 mm), and the clinically detected (≥5 mm) neoplasms (n= 16; 32%) which had a median size of 13 mm (range 9–30 mm; mean 16 mm). Neoplasms were positive for GATA3 (n = 47; 100%) and L1CAM (n= 34/38; 89%) and were negative for vimentin (n= 0/44; 0%) and, to a lesser extent, AMACR [(n= 12/46; 26%; weak = 9, weak/moderate = 3)]. KRASmutations were found in 44% (n= 15/34) of the clinically undetected PRNRP and 88% of the clinically detected PRNRP (n= 14/16). The two clinically detected PRNRP with wild-type KRASgene were markedly cystic and contained microscopic intracystic tumors. In the clinically undetected PRNRP, the detected KRASmutations rate was higher in those measuring ≥1 mm vs <1 mm [n = 14/19 (74%) vs n = 1/15 (7%)]. Overall, the KRASmutations were present in exon 2—codon 12: c.35 G > T (n= 21), c.34 G > T (n= 3), c.35 G > A (n= 2), c.34 G > C (n= 2) resulting in p.Gly12Val, p. Gly12Asp, p.Gly12Cys and p.Gly12Arg, respectively. One PRNRP had a G12A/V/D complex mutation. Twenty-six PRNRP were concurrently present with other tumors of different histologic subtypes in the ipsilateral kidney; molecular testing of 8 of the latter showed wild-type KRASgene despite the presence of KRASmutations in 5 concurrent PRNRP. On follow up, no adverse pathologic events were seen (range 1–160 months; mean 44 months). In conclusion, the presence of KRASmutations in small, clinically undetected PRNRP provides a unique finding to this entity and supports its being an early event in the development of these neoplasms.
Details
- Language :
- English
- ISSN :
- 08933952 and 15300285
- Volume :
- 35
- Issue :
- 9
- Database :
- Supplemental Index
- Journal :
- Modern Pathology
- Publication Type :
- Periodical
- Accession number :
- ejs62055226
- Full Text :
- https://doi.org/10.1038/s41379-022-01018-6