Unique Growth Pattern Presentation of a Papillary Renal Cell Carcinoma
Abstract
:1. Introduction
2. Case Presentation
3. Discussion
Supplementary Materials
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Conflicts of Interest
References
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Genomic Alteration | Gene | Amino Acid Change | Coding | Locus | Allele Frequency | Variant Effect |
---|---|---|---|---|---|---|
TP53 D208G | TP53 | p.(D208G) | c.623A > G | chr17:7578226 | 4.10% | missense |
ABL1 M244I | ABL1 | p.(M244I) | c.732G > A | chr9:133738332 | 11.00% | missense |
ERBB4 V167A | ERBB4 | p.(V167A) | c.500T > C | chr2:212652806 | 3.08% | missense |
PIK3CA M1043 * | PIK3CA | p.(M1043*) | c.3127delA | chr3:178952069 | 0.36% | nonsense |
KIT L644P | KIT | p.(L644P) | c.1931T > C | chr4:55594228 | 25.96% | missense |
EGFR G575R | EGFR | p.(G575R) | c.1723G > A | chr7:55232973 | 42.57% | missense |
MET T1011A | MET | p.(T1011A) | c.3031A > G | chr7:116411992 | 3.83% | missense |
GNAQ D236G | GNAQ | p.(D236G) | c.707A > G | chr9:80409407 | 3.20% | missense |
RET P785L | RET | p.(P785L) | c.2354C > T | chr10:43613890 | 4.31% | missense |
FGFR2 E368G | FGFR2 | p.(E368G) | c.1103A > G | chr10:123274815 | 6.94% | missense |
ATM S333F | ATM | p.(S333F) | c.998C > T | chr11:108117787 | 25.49% | missense |
ATM I1688V | ATM | p.(I1688V) | c.5062A > G | chr11:108170497 | 4.50% | missense |
CDH1 T66A | CDH1 | p.(T66A) | c.196A > G | chr16:68835605 | 8.70% | missense |
Genomic Alteration | Gene | Amino Acid Change | Coding | Locus | Allele Frequency | Variant Effect |
---|---|---|---|---|---|---|
TP53 I254T | TP53 | p.(I254T) | c.761T > C | chr17:7577520 | 7.68% | missense |
TP53 S241P | TP53 | p.(S241P) | c.721T > C | chr17:7577560 | 2.31% | missense |
SMAD4 H444W;R445 * | SMAD4 | p.([H444W;R445 *]) | c.1330_1333delCATCinsTGGT | chr18:48603029 | 22.22% | missense, nonsense |
VHL Y156H | VHL | p.(Y156H) | c.466T > C | chr3:10191473 | 3.57% | missense |
PIK3CA D84N | PIK3CA | p.(D84N) | c.250G > A | chr3:178916863 | 10.91% | missense |
FGFR3 G773S | FGFR3 | p.(G773S) | c.2317G > A | chr4:1808885 | 5.32% | missense |
PDGFRA R554G | PDGFRA | p.(R554G) | c.1660A > G | chr4:55141014 | 5.76% | missense |
KIT | KIT | p.(?) | c.1991-2_1991-1delinsC.A | chr4:55595499 | 3.57% | unknown |
KIT | KIT | p.(?) | c.1991-2_1991delinsCCC. | chr4:55595499 | 96.43% | unknown |
KDR P479A | KDR | p.(P479A) | c.1435C > G | chr4:55972955 | 28.57% | missense |
FBXW7 L594V | FBXW7 | p.(L594V) | c.1780C > G | chr4:153245411 | 66.67% | missense |
APC L1342S | APC | p.(L1342S) | c.4025T > C | chr5:112175316 | 6.25% | missense |
ATM D408E;L409N | ATM | p.([D408E;L409N]) | c.1224_1227delTCTTinsGAAC | chr11:108119818 | 13.51% | missense, missense |
PTPN11 I494V | PTPN11 | p.(I494V) | c.1480A > G | chr12:112926860 | 7.85% | missense |
FLT3 L610V | FLT3 | p.(L610V) | c.1828T > G | chr13:28608228 | 9.80% | missense |
FLT3 N609T | FLT3 | p.(N609T) | c.1826A > C | chr13:28608230 | 5.04% | missense |
FLT3 E608V | FLT3 | p.(E608V) | c.1823A > T | chr13:28608233 | 10.39% | missense |
FLT3 | FLT3 | p.(?) | c.1310-2A > G | chr13:28610182 | 40.00% | unknown |
RB1 E554G | RB1 | p.(E554G) | c.1661A > G | chr13:48955545 | 10.95% | missense |
RB1 Q689R;N690Y | RB1 | p.([Q689R;N690Y]) | c.2066_2068delAGAin sGTT | chr13:49033929 | 5.17% | missense, missense |
AKT1 P42S | AKT1 | p.(P42S) | c.124C > T | chr14:105246476 | 3.30% | missense |
CDH1 N93S | CDH1 | p.(N93S) | c.278A > G | chr16:68835687 | 14.83% | missense |
TP53 S20P | TP53 | p.(S20P) | c.58T > C | chr17:7579855 | 9.89% | missense |
ERBB2 V794M | ERBB2 | p.(V794M) | c.2380G > A | chr17:37881051 | 4.85% | missense |
STK11 E33K | STK11 | p.(E33K) | c.97G > A | chr19:1207009 | 3.15% | missense |
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Harich, O.O.; Olteanu, G.-E.; Mihai, I.M.; Benta, M.; Isabella, G.O.; Virgil, P.; Bojin, F.M. Unique Growth Pattern Presentation of a Papillary Renal Cell Carcinoma. Diagnostics 2022, 12, 1904. https://doi.org/10.3390/diagnostics12081904
Harich OO, Olteanu G-E, Mihai IM, Benta M, Isabella GO, Virgil P, Bojin FM. Unique Growth Pattern Presentation of a Papillary Renal Cell Carcinoma. Diagnostics. 2022; 12(8):1904. https://doi.org/10.3390/diagnostics12081904
Chicago/Turabian StyleHarich, Octavia Oana, Gheorghe-Emilian Olteanu, Ioana Maria Mihai, Marius Benta, Gavriliuc Oana Isabella, Paunescu Virgil, and Florina Maria Bojin. 2022. "Unique Growth Pattern Presentation of a Papillary Renal Cell Carcinoma" Diagnostics 12, no. 8: 1904. https://doi.org/10.3390/diagnostics12081904