WHO2021でさりげなく新規収載された、神経系を侵しうる「腫瘍症候群」のまとめ

✅Carney複合
✅ELP1-medulloblastoma症候群
✅BAP1 tumor predisposition症候群
✅DICER1症候群
✅家族性paraganglioma症候群
✅melanoma-astrocytoma症候群
✅家族性網膜芽細胞腫
✅Fanconi貧血

PMID:37945522
#Rdiag

Case 1 : BAP1 deficient Clear cell carcinoma . BAP1 is associated with aggressive clinical course.

(-) BAP1, bland mesothelial lining; benign or malignant?
#gynpath #pulmpath #pathresidents #pathtwitter #USCAP 2024 #USCAP 24 #USCAP

Strongly recommend working up complex mesothelial tumors of the tunica vaginalis for NF2 alterations in addition to BAP1 and CDKN2A/B.

journals.lww.com/ajsp/abstract/…

I am + for Calretinin, WT1 and CK5/6

I am - for TTF1, Claudin and MOC31

I can have loss of BAP1 and homozygous deletion of CDKN2A

Who am I?

Credit: Kelly Hall, MD

#pathagonia #path4people #pathtwitter #pathx #pathology #pulmpath #medx #pulmonology #hemeonc #medicine #CTsurg

Pemigatinib in previously treated solid tumors w/ activating FGFR1–FGFR3 GA
Nature Medicine
doi.org/10.1038/s41591…
🔎 FIGHT-207 basket
👉Fusions most responsive, but histology matters
👉C382R & in frameDel also responsive
👉BAP1: ORR⬆️
👉TP53: ORR⬇️
ESMO - Eur. Oncology ILCA EASLnews

BAP1-inactivated melanocytoma. #dermpath #pathology #IHCpath

68 y/o M Worker
With shortness of breath, voice hoarseness and pleural effusion.
Imaging and Cytology below:

Cells are + for EMA, Calretinin
With BAP1 mutation

Dx?
#ctsurg #thoracicsurg #pathx #pulmx #medx #medstudentx #cytox #pathology

Official results announce by ECP for national assembly 262/264

IND101
PML (N) 75
PPPP 54
MQM17
PML3
JUI (P)4
IPP 2
MWMP1
BNP2
PML (Z) 1
PNAPP1
BAP1
NP1

BAP-1 loss in intrahepatic cholangiocarcinoma (IHCC)
Loss of nuclear staining for BAP1 IHC correlates strongly with BAP1 mutation in IHCC
BRCA1-associated protein 1 (BAP1)
Tumor suppressor gene
Nuclear deubiquitinating enzyme
Encoded by the BAP1 gene at 3p21.1
Involved in…

Combined BAP1-inactivated melanocytoma of the Meyerson type

Do I go to the NIH in Baltimore, Maryland to be involved in a BAP1 genetic predisposition syndrome study or don’t I? I’m thinking yes … but haven’t travelled on a plane with a fake leg up to this point. Do I or don’t I? What’s involved: bldwork, CT, MRI, PET, PFT, ~VATS

Today is rare disease day. Ok awkward: linear scleroderma, then surprise, AGCT (ovarian ca) although I have no ovaries, diffuse giant cell tumor was found in 2023, wont mention nodular melanoma, or the Marjorins ulcer, or the SCC! Evidently I was quite evil in another life. BAP1

I always find it fascinating to observe this entity. The prominent epithelioid cells, devoid of BAP1 nuclear expression, stand in stark contrast to the smaller, banal nevus component, which exhibits retained expression. 😆🔬

BAP1-inactivated melanocytoma

#dermpath #MDACCPath

The Prevalence and Radiologic Features of Renal Cancers Associated with FLCN, BAP1, SDH, and MET Germline Mutations | Radiology: Imaging Cancer pubs.rsna.org/doi/10.1148/ry…

Discover the latest genomic insights shaping the future of melanoma research and care.

The article explores the molecular characteristics and functional roles of PRAME and BAP1 proteins in melanoma.

Link: researchhub.com/paper/6208093/…

Looking forward to another great presentation today at #SPIE ! PhD cand. Mena Shenouda will be talking about 'The use of radiomics on computed tomography scans for differentiation of somatic BAP1 mutation status for patients with pleural mesothelioma' at 5:30 PM today!

Hispanic vs Non hispanic outcomes in mRCC demographic and Genomic Variations: VHL, BAP1, PTEN more prevalent in HISPANICS 🤗🤗🤗

Mesotelioma Pleural Maligno (MPM).

-Mutación BAP1 asociada a BRCA1.
-Criterios RECIST modificados (tumores sólidos).
-Tto 1era línea (DREAM trial): durvalumab, cisplatino y pemetrexed.

ESMO Open 2020;4:e000669