HLRCC Foundation

Hereditary Leiomyomatosis and Renal Cell Carcinoma - ERKNet/ERA Webinar ... youtu.be/Zypr2QNvQno?si… via @YouTube

Excited to share our work performed at @theNCI addressing needs of rare hereditary kidney cancer through bench to bedside work Bevacizumab + erlotinib for #HLRCC assoc RCC 📍Response rate 72% 📍mPFS 21.1 mo Thanks to the patients who supported the study! nejm.org/doi/full/10.10…

Our first HLRCC Symposium is in the books and we are excited to share an online version for those interested in learning more about the condition. Special thank you to all those who contributed @FrezzaLab @MuellerRom @LauraEsfeller @MarstonLinehan youtube.com/watch?v=2L7dli…

Quantifying evidence for phenotypic specificity (PP4) for syndromic phenotypes: Large-scale integration of rare germline FH variants from diagnostic laboratory testing for HLRCC (Hereditary Leiomyomatosis and Renal... medrxiv.org/content/10.110…

Unobtrusive skin nodules can be an early sign of Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC). Early recognition is key to timely diagnosis and care. Read full article at : jkcvhl.com/index.php/jkcv… . . . #HLRCC #SkinSigns #RenalCancer #HereditaryCancer #Dermatology

Kidney tumors - updates & newer entities (Basic facts for residents) Molecularly defined entities involving TFE3, TFEB, ELOC, ALK, SMARCB1, SDH, FH etc. Evolving classification of papillary renal cell carcinoma. #MakeSurgiPathEasy #RenalTumorsUpdates

After Katie Coleman was diagnosed with a rare form of advanced #KidneyCancer in 2020, she received treatment through an NCI #ClinicalTrial. Today, she’s an author who raises awareness about rare kidney cancers. go.nih.gov/XFGR0q9 #WorldKidneyDay

The HLRCC Alliance: Small steps out of stealth mode. First commentary on behalf of the Alliance. Interdisciplinary work. @ERAkidney, @EuRefNetwork, ERN GENTURIS, @ERN_eUROGEN, @ESP_Pathology and @IKCCorg academic.oup.com/ndt/advance-ar… Work will be cont. together w. @HLRCCFoundation

Mizzou wrestler raises awareness of HLRCC genetic disorder that led to his own battle with cancer komu.com/sports/mizzoux… via @komunews

Had a great time discussing a topic I'm passionate about with @urojdr. Thank you @AmerUrological!

In 2021, scientists discovered that #HLRCC, a deadly form of kidney cancer, likely becomes highly aggressive due to shifts in metabolism that result from damage to the genome of #mitochondria. Learn more: scim.ag/6gE @SciSignal

✅FH-deficient RCC High grade with various patterns At least focal prominent macronucleoli FH- (sensitive) 2SC+ (specific) familial cases = "HLRCC syndrome-associated RCC" #GUPath #PathTwitter #Pathology another WSI example🔬dpa-dapa.com/public/display…

Very excited to share this work led by @MarlousKamp and the @bondieklab where we managed to visualise fumarate in label free conditions, and at intracellular resolution! congrats to all! nature.com/articles/s4146…

Congrats @LauraEsfeller on detailing the #HLRCC journey and how to move the field forward! Fantastic addition to today’s first HLRCC Symposium. Register: uni-koeln.zoom.us/webinar/regist… #kidneycancer #rarecancer #raredisease #worldkidneycancerday @HLRCCFoundation @ERAkidney @EuRefNetwork

Tomorrow is our first HLRCC Symposium (times in CEST)! Speakers include patient @LauraEsfeller, @MarstonLinehan from @NCICCR_UroOnc & @NIH, & Dr Frezza from @FrezzaLab. Register: shorturl.at/wey8c Support from: @IKCCorg @EuRefNetwork @ERAkidney @KidneyCancer

Today @HHSGov Deputy Secretary Andrea Palm toured the urologic oncology lab that I share with Dr. Marston Linehan in the @NIHClinicalCntr. Dr. Linehan recently received an HHS Secretary’s Award for Distinguished Service for his contribution to the discovery of the VHL gene.

Our Affiliate Partner @HLRCCFoundation with @ERAkidney @EuRefNetwork are conducting a survey to estimate the # of #HLRCC patients and treatment centers. Learn more and take the brief survey here: de.surveymonkey.com/r/XM85PC3

📢 Just one week to go until it's World Kidney Cancer Day! Get ready to to raise awareness and feel empowered to prioritise your kidney health 🙌 #WorldKidneyCancerDay24 #KidneyCancer