#SMARCB1
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folpe-mn-st.bsky.social
IHC: positive for keratins, S100 protein, and brachyury. SMARCB1 retained (normal).
Keratin S100 Brachyury SMARCB1
March 14, 2025 at 7:08 PM
usatoday.com
Mia Hamant was diagnosed with Stage 4 SMARCB1-deficient kidney cancer, a rare and aggressive form of the disease, this past April.
Washington goalkeeper Mia Hamant dies from kidney cancer at 21
Mia Hamant was diagnosed with Stage 4 SMARCB1-deficient kidney cancer, a rare and aggressive form of the disease, this past April.
bit.ly
November 8, 2025 at 2:08 AM
folpe-mn-st.bsky.social
Extra-axial conventional chordoma of an interphalangeal joint. Sure, why not- it’s Friday. You can also get poorly differentiated, SMARCB1-deficient chordoma in joints, most often the left knee. I have no idea why. pubmed.ncbi.nlm.nih.gov/39577663/
Extraaxial Poorly Differentiated Chordoma: Clinicopathologic and Molecular Genetic Characterization - PubMed
Poorly differentiated chordoma (PDC) is an aggressive subtype of chordoma characterized by SMARCB1 (INI1) loss and a dismal prognosis. It typically involves the axial skeleton, most commonly the skull...
pubmed.ncbi.nlm.nih.gov
March 14, 2025 at 7:11 PM
katcollmd.bsky.social
#slidearchiveseries SMARCB1 deficient renal medullary carcinoma
#gupath #pathsky #pathoutpic

🩸 young pts with sickle cell trait
🔬 cribriform, reticular, nested growth
🎨 PAX8, broad spectrum CKs, CEA, p53
⚠️ OCT3/4 ➕ (50%), pitfall with GCT
🔑 SMARCB1 / INI1 inactivation
December 12, 2024 at 10:54 PM
folpe-mn-st.bsky.social
#PathSky Hand mass, 32M. Bland spindle cell tumor with collagen trapping- just an FH, right? Also some less bland epithelioid areas. This is a predominantly spindled epithelioid sarcoma- “modulation” from epithelioid to spindled cells is an under appreciated morphological hallmark. See Comment.
Keratin SMARCB1
November 22, 2024 at 2:48 PM
carrerasijc.bsky.social
🎉 Huge congratulations to the Cancer genetics team!

The work on SMARCB1-deficient tumours has been selected for the cover of the Sept 15 issue of Cancer Research (@theaacr.bsky.social): aacrjournals.org/cancerres/ar...

👏 Andrea Vilarrubi, @cespedesmontse.bsky.social and Octavio Romero Ferraro!
October 7, 2026 at 9:50 AM
folpe-mn-st.bsky.social
They’re F13a-negative, but keratin-positive. Panic attack. But she has no other disease and they are SMARCB1-retained (normal). Do you have a diagnosis?
Factor 13a AE1/3 SMARCB1
December 26, 2024 at 7:03 PM
grunewaldlab.bsky.social
🔥Check out our new article on..

Loss of #SMARCB1 evokes targetable epigenetic vulnerabilities in #epithelioid #sarcoma

onlinelibrary.wiley.com/doi/10.1002/...

@dkfz.bsky.social @KiTZ_HD @nct-heidelberg.bsky.social @uniheidelberg.bsky.social
January 21, 2025 at 8:48 AM
jci.org
DNA damage provides a bright spot in rhabdoid & epithelioid sarcomas

Alex Kentsis @kentsisresearch.bsky.social @oleg8r.bsky.social show combined EZH2/ATR inhibition improves response in SMARCB1-deficient tumor models via epigenetic induction of transposase-derived PGBD5: www.jci.org/articles/vie...
October 23, 2025 at 4:15 PM
sbgrid.bsky.social
SBGrid's eLife paper received a citation in April from Eric Fischer of Dana-Farber Cancer Institute in a new Nature publication: Targeting DCAF5 suppresses SMARCB1-mutant cancer by stabilizing SWI/SNF.

Learn more: www.nature.com/articles/s41...
Targeting DCAF5 suppresses SMARCB1-mutant cancer by stabilizing SWI/SNF - Nature
DCAF5 has a quality-control function for SWI/SNF complexes and promotes the degradation of incompletely assembled SWI/SNF complexes in the absence of SMARCB1.
www.nature.com
May 20, 2024 at 1:01 PM
krhornberger.bsky.social
Discovery of CFT8634, a Potent, Selective, and Orally Bioavailable Heterobifunctional Degrader of BRD9
Discovery of CFT8634, a Potent, Selective, and Orally Bioavailable Heterobifunctional Degrader of BRD9
The chromatin factor bromodomain-containing protein 9 (BRD9) is a genetic dependency in SMARCB1-perturbed or SMARCB1-null cancers including synovial sarcoma. In such cancers, the degradation of BRD9 i...
pubs.acs.org
December 15, 2025 at 12:13 PM
lizdelagarzag.bsky.social
Molecular subgroups of ATRT as seen in Holdhof, D. et al. Atypical teratoid/rhabdoid tumors (ATRTs) with SMARCA4 mutation are molecularly distinct from SMARCB1-deficient cases.

Acta Neuropathologica, 2021
August 16, 2025 at 3:11 PM
guixe-m.bsky.social
1/17 We are very happy to announce our latest work about the genetic origin and evolution of one of the most aggressive pediatric tumors: “Variable latency between the founder genetic event and rhabdoid tumor expansion” www.biorxiv.org/content/10.6.... Follow the thread to know more 👇
Variable latency between the founder genetic event and rhabdoid tumor expansion
Rhabdoid tumors are very aggressive rare pediatric cancers with poor survival affecting very young children. They are characterized by the bi-allelic loss of SMARCB1 or SMARCA4, which is suspected to ...
www.biorxiv.org
July 6, 2026 at 12:43 PM
asbmb.bsky.social
New in JBC: Nguyen and colleagues reveal that the loss of the mSWI/SNF subunit SMARCB1 in rhabdoid tumors has specific consequences on mRNAs translation with potential to unveil new dependencies.
➡️Image credit: Ella Marushchenko
➡️Article: bit.ly/4aD39yT.
#cancerbiology #mRNA #rhabdoidtumors
The image represents the mSWI/SNF (mammalian SWItch/Sucrose Non-Fermentable) complex interacting with the ribosome in the cytoplasm of a cell, with nucleus and organelles in the background.
January 30, 2025 at 10:14 PM
oncodaily.bsky.social
Mia Hamant: A Goalkeeper’s Courageous Battle with Stage 4 Kidney Cancer

oncodaily.com/stories/cele...

#OncoDaily #Oncology #Cancer #Health #Medicine #MedEd #MedOnc #MedNews
Mia Hamant: A Goalkeeper’s Courageous Battle with Stage 4 Kidney Cancer - OncoDaily
Mia Hamant: A Goalkeeper’s Courageous Battle with Stage 4 Kidney Cancer / cancer, Headlines, kidney cancer, MIa Hamant, OncoDaily, Oncology, SMARCB1-Deficient
oncodaily.com
November 13, 2025 at 9:46 PM
cp-cancercell.bsky.social
Online Now: p53 Is a Master Regulator of Proteostasis in SMARCB1-Deficient Malignant Rhabdoid Tumors
p53 Is a Master Regulator of Proteostasis in SMARCB1-Deficient Malignant Rhabdoid Tumors
(Cancer Cell 35, 204–220, February 11, 2019)
dlvr.it
February 2, 2026 at 3:18 PM
franmartinezgr.bsky.social
Multimodal Genotype-Phenotype Analysis in SMARCB1-Associated Developmental Disorders #RareDisease #Genetics www.sciencedirect.com/science/arti...
May 31, 2026 at 6:21 PM
grunewaldlab.bsky.social
Very proud on our stellar doctoral student, Maxim Kafka, for being awarded with a Mildred-Scheel doctoral scholarship from the German Cancer Aid.

Maxim is working @dkfz.bsky.social on a follow-up on our recent paper on #SMARCB1-deficient Epitheloid #Sarcoma

onlinelibrary.wiley.com/doi/10.1002/...
September 25, 2025 at 2:13 PM
medicine.stitches.today
Combined inhibition of EZH2 and ATR enhances therapeutic responses in SMARCB1-deficient tumors, paving the way for clinical trials.

by Kazansky Y, Mueller HS (...) Kentsis A et 14 al. in J Clin Invest #MedSky

👉 get more here

📖 read the article: https://www.jci.org/articles/view/179282
August 21, 2025 at 2:06 AM
dangrahammd.bsky.social
Dx: PD chordoma w/ SMARCB1 loss. I felt so bad I offered to see the patient to apologize but my ortho onc wouldn’t let me lol. Did CK on bx and sure enough, little histiocytoid fragments w/ TINs +. I was humbled, big time. It still haunts me yrs later as I put chordoma in the ddx when I shouldn’t
March 20, 2025 at 5:49 AM
rridrobot.bsky.social
RRIDs were included in this a journal paper. We value the author's support of reproducibility. #reproducibility #STMpublishing #OpenScience
SMARCB1 missense mutants disrupt SWI/SNF complex stability and remodeling activity
doi.org
April 21, 2025 at 7:01 AM
rridrobot.bsky.social
The authors included RRIDs in their paper! We value the author's support of reproducibility. #accelerateopenscience #accelerateopenscience #accelerateopenscience
SIRT2 regulates the SMARCB1 loss-driven differentiation block in ATRT
doi.org
December 7, 2025 at 8:01 AM
rridrobot.bsky.social
RRIDs were included in this in Nature Communications paper. RRIDs improve reproducibility in scientific research. #RRID #ReproducibleResearch #accelerateopenscience
SMARCB1 missense mutants disrupt SWI/SNF complex stability and remodeling activity - Nature Communications
The functional impact of most missense variants remains unknown. Here the authors perform deep mutational scanning of the tumor suppressor SMARCB1 and find missense mutations that retain detectable protein expression but disrupt function similar to protein-null mutations
doi.org
June 11, 2026 at 7:01 AM
the-asci.org
DNA damage provides a bright spot in rhabdoid & epithelioid sarcomas

ASCI member Mark Kentis @kentsisresearch.bsky.social show combined EZH2/ATR inhibition improves response in SMARCB1-deficient tumor models via epigenetic induction of transposase-derived PGBD5: www.jci.org/articles/vie...
October 23, 2025 at 4:08 PM
rridrobot.bsky.social
RRID:Addgene_12259, was just reported to be used in "Efficacy of glutathione inhibitor eprenetapopt against the vulnerability of glutathione metabolism in SMARCA4-, SMARCB1- and PBRM1-deficient cancer cells".We appreciate the author's support of reproducibility. #STMpublishing #reproducibility
doi.org
January 5, 2025 at 12:34 PM