📊 New study quantifies phenotype specificity for FH missense variants in HLRCC. These ultra-rare variants are >200× enriched vs controls, giving powerful evidence to boost PP4 and improve variant classification 🧪🔍 bit.ly/47aElNj
October 16, 2025 at 9:38 PM
📊 New study quantifies phenotype specificity for FH missense variants in HLRCC. These ultra-rare variants are >200× enriched vs controls, giving powerful evidence to boost PP4 and improve variant classification 🧪🔍 bit.ly/47aElNj
NEJM study: Bevacizumab (10 mg/kg biweekly) and Erlotinib in papillary kidney cancer shows promise for HLRCC-linked renal issues. PMID:40532152, N Engl J Med 2025, @NEJM https://doi.org/10.1056/NEJMoa2200900 #Medsky #Pharmsky #RNA #ASHG #ESHG 🧪
https://doi.org/10.1056/NEJMoa2200900
No description available
doi.org
June 23, 2025 at 2:10 AM
NIH saved my life. Their research helped develop treatments and raise awareness for my gene that causes kidney cancer #HLRCC. Dr Marston Linehan is my hero. I detest that these pathetic humans in out government are harming decades of research that have saved and extended lives.
June 9, 2025 at 1:05 PM
NIH saved my life. Their research helped develop treatments and raise awareness for my gene that causes kidney cancer #HLRCC. Dr Marston Linehan is my hero. I detest that these pathetic humans in out government are harming decades of research that have saved and extended lives.
At #EAU25, Peter Mulders, ERN eUROGEN Coordinator spoke on VHL, HLRCC & BHD kidney cancers, emphasising genetic testing in RCC care + ERN value.
🔗 Read more:
⭐️ eurogen-ern.eu/workstreams-...
⭐️ eurogen-ern.eu/workstreams-...
#UroOnc #KidneyCancer #EUfunded
🔗 Read more:
⭐️ eurogen-ern.eu/workstreams-...
⭐️ eurogen-ern.eu/workstreams-...
#UroOnc #KidneyCancer #EUfunded
March 28, 2025 at 9:00 AM
At #EAU25, Peter Mulders, ERN eUROGEN Coordinator spoke on VHL, HLRCC & BHD kidney cancers, emphasising genetic testing in RCC care + ERN value.
🔗 Read more:
⭐️ eurogen-ern.eu/workstreams-...
⭐️ eurogen-ern.eu/workstreams-...
#UroOnc #KidneyCancer #EUfunded
🔗 Read more:
⭐️ eurogen-ern.eu/workstreams-...
⭐️ eurogen-ern.eu/workstreams-...
#UroOnc #KidneyCancer #EUfunded
Alaska Beacon: 'NIH saves lives, in Alaska and nationally. Research on my genetic condition shows how.'
'The Trump administration has thrown the NIH into chaos; I don’t know if the research for HLRCC will continue'
alaskabeacon.com/2025/02/26/n...
'The Trump administration has thrown the NIH into chaos; I don’t know if the research for HLRCC will continue'
alaskabeacon.com/2025/02/26/n...
NIH saves lives, in Alaska and nationally. Research on my genetic condition shows how. • Alaska Beacon
An Alaska commentary author writes about NIH discovering and advancing research on a syndrome since the early 2000s.
alaskabeacon.com
February 27, 2025 at 3:00 PM
Alaska Beacon: 'NIH saves lives, in Alaska and nationally. Research on my genetic condition shows how.'
'The Trump administration has thrown the NIH into chaos; I don’t know if the research for HLRCC will continue'
alaskabeacon.com/2025/02/26/n...
'The Trump administration has thrown the NIH into chaos; I don’t know if the research for HLRCC will continue'
alaskabeacon.com/2025/02/26/n...
Mission statement of the HLRCC Alliance:
"Improving quality of life and health for patients with HLRCC through providing a platform for patient advocacy initiatives, research, excellent education and networking of caregivers, researchers, patients and their families."
"Improving quality of life and health for patients with HLRCC through providing a platform for patient advocacy initiatives, research, excellent education and networking of caregivers, researchers, patients and their families."
February 24, 2025 at 7:11 PM
Mission statement of the HLRCC Alliance:
"Improving quality of life and health for patients with HLRCC through providing a platform for patient advocacy initiatives, research, excellent education and networking of caregivers, researchers, patients and their families."
"Improving quality of life and health for patients with HLRCC through providing a platform for patient advocacy initiatives, research, excellent education and networking of caregivers, researchers, patients and their families."
First commentary on behalf of the HLRCC Alliance: Small steps out of stealth mode.
European Renal Association, @erknet.bsky.social, ERNs GENTURIS + eUROGEN, European Society of Pathology, @ikccorg.bsky.social
academic.oup.com/ndt/advance-...
Work will be cont. together w. the HLRCC Foundation.
European Renal Association, @erknet.bsky.social, ERNs GENTURIS + eUROGEN, European Society of Pathology, @ikccorg.bsky.social
academic.oup.com/ndt/advance-...
Work will be cont. together w. the HLRCC Foundation.
The impact of the new WHO Classification of renal cell carcinoma on the diagnosis of hereditary leiomyomatosis and renal cell carcinoma
Abstract. Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) syndrome is caused by heterozygous germline variants in the fumarate hydratase (FH) ge
academic.oup.com
February 24, 2025 at 7:10 PM
First commentary on behalf of the HLRCC Alliance: Small steps out of stealth mode.
European Renal Association, @erknet.bsky.social, ERNs GENTURIS + eUROGEN, European Society of Pathology, @ikccorg.bsky.social
academic.oup.com/ndt/advance-...
Work will be cont. together w. the HLRCC Foundation.
European Renal Association, @erknet.bsky.social, ERNs GENTURIS + eUROGEN, European Society of Pathology, @ikccorg.bsky.social
academic.oup.com/ndt/advance-...
Work will be cont. together w. the HLRCC Foundation.
I am an NIH patient & IL resident. I have HLRCC. My mother died of the disease in 1988 at 45. Nobody understood it then. NIH have been researching it for decades & because of that I’m alive & there is hope for my son who has the gene too. We are devastated by these cuts. NIH are heroes. #HLRCC #NIH
February 24, 2025 at 1:48 AM
February 23, 2025 at 2:39 PM
An important paper for the HLRCC community and those working on it:
The impact of the new WHO Classification of renal cell carcinoma on the diagnosis of hereditary leiomyomatosis and renal cell carcinoma
academic.oup.com/ndt/advance-...
The impact of the new WHO Classification of renal cell carcinoma on the diagnosis of hereditary leiomyomatosis and renal cell carcinoma
academic.oup.com/ndt/advance-...
February 21, 2025 at 1:48 PM
An important paper for the HLRCC community and those working on it:
The impact of the new WHO Classification of renal cell carcinoma on the diagnosis of hereditary leiomyomatosis and renal cell carcinoma
academic.oup.com/ndt/advance-...
The impact of the new WHO Classification of renal cell carcinoma on the diagnosis of hereditary leiomyomatosis and renal cell carcinoma
academic.oup.com/ndt/advance-...
As an NIH patient whose hope clings to that research and has seen people surviving a disease that killed my mother at age 45, I am devastated they are doing this. Research is everything. There are incredible doctors like Dr. Marston Lineham whose work has extended and saved so many lives. #HLRCC.
February 9, 2025 at 1:53 PM
As an NIH patient whose hope clings to that research and has seen people surviving a disease that killed my mother at age 45, I am devastated they are doing this. Research is everything. There are incredible doctors like Dr. Marston Lineham whose work has extended and saved so many lives. #HLRCC.
A sane government wouldn’t do this. I am an NIH patient. Some of that research they are slashing is to help keep me and my son alive. #HLRCC. #NIH
I honestly can’t believe this is happening. Devastated.
I honestly can’t believe this is happening. Devastated.
“This abrupt change..will have devastating consequences on medical science. Many people will lose jobs, clinical trials will halt, and this will slow down progress toward cures for cancer and effective prevention of illness”
“A sane government would never do this”
apple.news/AuphtalGfSpy...
“A sane government would never do this”
apple.news/AuphtalGfSpy...
NIH cuts billions of dollars in biomedical funding, effective immediately — The Washington Post
Researchers say it would hurt facilities that work on medical issues such as cancer research and heart disease. Elon Musk contends the old policy was ‘a ripoff.’
apple.news
February 9, 2025 at 1:48 PM
Long but exciting day - on the first leg of my trip to FLASCO’s
Annual Puerto Rico Oncology Symposium! Can’t wait! #patientadvocate #kidneycancer #renalcellcarcinoma #HLRCC #stagefourneedsmore #oncsky
Annual Puerto Rico Oncology Symposium! Can’t wait! #patientadvocate #kidneycancer #renalcellcarcinoma #HLRCC #stagefourneedsmore #oncsky
February 6, 2025 at 12:49 PM
Long but exciting day - on the first leg of my trip to FLASCO’s
Annual Puerto Rico Oncology Symposium! Can’t wait! #patientadvocate #kidneycancer #renalcellcarcinoma #HLRCC #stagefourneedsmore #oncsky
Annual Puerto Rico Oncology Symposium! Can’t wait! #patientadvocate #kidneycancer #renalcellcarcinoma #HLRCC #stagefourneedsmore #oncsky
I didn't know either, pre- cancer. For rare cancers like mine (HLRCC), NIH is pretty much the only org doing the research.
January 25, 2025 at 9:41 PM
I didn't know either, pre- cancer. For rare cancers like mine (HLRCC), NIH is pretty much the only org doing the research.
Summary
Why this matters: Recognizing these features can aid in early diagnosis, especially in patients with a family history or symptoms suggestive of HLRCC.
Why this matters: Recognizing these features can aid in early diagnosis, especially in patients with a family history or symptoms suggestive of HLRCC.
December 17, 2024 at 11:27 PM
Summary
Why this matters: Recognizing these features can aid in early diagnosis, especially in patients with a family history or symptoms suggestive of HLRCC.
Why this matters: Recognizing these features can aid in early diagnosis, especially in patients with a family history or symptoms suggestive of HLRCC.
3b/
⚠️ NB: In patients with HLRCC, the uterine leiomyomas have a distinct appearance, cutaneous leiomyomas do not ⚠️ .
Sadly, 15-30% of patients with HLRCC will develop this aggressive RCC.
Cutaneous FHD leiomyoma below
⚠️ NB: In patients with HLRCC, the uterine leiomyomas have a distinct appearance, cutaneous leiomyomas do not ⚠️ .
Sadly, 15-30% of patients with HLRCC will develop this aggressive RCC.
Cutaneous FHD leiomyoma below
December 17, 2024 at 11:27 PM
3b/
⚠️ NB: In patients with HLRCC, the uterine leiomyomas have a distinct appearance, cutaneous leiomyomas do not ⚠️ .
Sadly, 15-30% of patients with HLRCC will develop this aggressive RCC.
Cutaneous FHD leiomyoma below
⚠️ NB: In patients with HLRCC, the uterine leiomyomas have a distinct appearance, cutaneous leiomyomas do not ⚠️ .
Sadly, 15-30% of patients with HLRCC will develop this aggressive RCC.
Cutaneous FHD leiomyoma below
3a/ Genetic Link:
Associated with Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome (HLRCC).
Leiomyomas are a hallmark:
Uterine leiomyomas: seen in nearly 100% of women with this syndrome.
Cutaneous leiomyomas: occur in ~75% of patients.
pubmed.ncbi.nlm.nih.gov/26574848/
Associated with Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome (HLRCC).
Leiomyomas are a hallmark:
Uterine leiomyomas: seen in nearly 100% of women with this syndrome.
Cutaneous leiomyomas: occur in ~75% of patients.
pubmed.ncbi.nlm.nih.gov/26574848/
Fumarate Hydratase-deficient Uterine Leiomyomas Occur in Both the Syndromic and Sporadic Settings - PubMed
Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) syndrome secondary to germline fumarate hydratase (FH) mutation presents with cutaneous and uterine leiomyomas, and a distinctive aggressive ...
pubmed.ncbi.nlm.nih.gov
December 17, 2024 at 11:27 PM
3a/ Genetic Link:
Associated with Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome (HLRCC).
Leiomyomas are a hallmark:
Uterine leiomyomas: seen in nearly 100% of women with this syndrome.
Cutaneous leiomyomas: occur in ~75% of patients.
pubmed.ncbi.nlm.nih.gov/26574848/
Associated with Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome (HLRCC).
Leiomyomas are a hallmark:
Uterine leiomyomas: seen in nearly 100% of women with this syndrome.
Cutaneous leiomyomas: occur in ~75% of patients.
pubmed.ncbi.nlm.nih.gov/26574848/
Before I get too carried away posting/skying?, more about me: dx in 2016 w/stage 4 papillary #kidneycancer. Discovered I have #HLRCC, a genetic disorder related to my diagnosis. #caregiver to my mom-who died in 2019-from RCC & #lymphoma. Marketer by day, #patientadvocate by night. #oncsky #medsky
November 24, 2024 at 12:13 AM
Before I get too carried away posting/skying?, more about me: dx in 2016 w/stage 4 papillary #kidneycancer. Discovered I have #HLRCC, a genetic disorder related to my diagnosis. #caregiver to my mom-who died in 2019-from RCC & #lymphoma. Marketer by day, #patientadvocate by night. #oncsky #medsky
Modifications & metabolism go hand-in-hand. Recently we provided NCATS and the NCI’s Urologic Oncology Branch with a chembio assist 🙌 to help identify a unique therapeutic vulnerability in the hereditary cancer disorder HLRCC.
aacrjournals.org/mct/article-...
aacrjournals.org/mct/article-...
Targeting NAD+ Metabolism Vulnerability in FH-Deficient Hereditary Leiomyomatosis and Renal Cell Carcinoma with the Novel NAMPT Inhibitor OT-82
Abstract. Hereditary leiomyomatosis and renal cell cancer (HLRCC) is an inherited cancer syndrome caused by germline pathogenic variants in the fumarate hydratase (FH) gene. Affected individuals are a...
aacrjournals.org
November 16, 2024 at 9:47 PM
Modifications & metabolism go hand-in-hand. Recently we provided NCATS and the NCI’s Urologic Oncology Branch with a chembio assist 🙌 to help identify a unique therapeutic vulnerability in the hereditary cancer disorder HLRCC.
aacrjournals.org/mct/article-...
aacrjournals.org/mct/article-...
Hello!
Call me Nay or Lyric.🎶
27
Aroace and enby
Single. Never wanting to mingle.
Cat parent.🐈⬛
Very likely autistic.
Ongoing cancer warrior (hlrcc)🎗
I like cartoons. I switch around my fixations and you can (usually) easily tell what my current one is :]
I art sometimes and I love music.
Call me Nay or Lyric.🎶
27
Aroace and enby
Single. Never wanting to mingle.
Cat parent.🐈⬛
Very likely autistic.
Ongoing cancer warrior (hlrcc)🎗
I like cartoons. I switch around my fixations and you can (usually) easily tell what my current one is :]
I art sometimes and I love music.
November 9, 2024 at 2:56 AM
Hello!
Call me Nay or Lyric.🎶
27
Aroace and enby
Single. Never wanting to mingle.
Cat parent.🐈⬛
Very likely autistic.
Ongoing cancer warrior (hlrcc)🎗
I like cartoons. I switch around my fixations and you can (usually) easily tell what my current one is :]
I art sometimes and I love music.
Call me Nay or Lyric.🎶
27
Aroace and enby
Single. Never wanting to mingle.
Cat parent.🐈⬛
Very likely autistic.
Ongoing cancer warrior (hlrcc)🎗
I like cartoons. I switch around my fixations and you can (usually) easily tell what my current one is :]
I art sometimes and I love music.