"an accurate pan-tissue, pan-histone-mark age predictor"😎

1814 ChIPseq samples
H3K4me3
H3K27ac
H3K9ac
H3K9me3
H3K27me3
H3K36me3
H3K4me1

82 tissues (incld large arteries)

"only a small fraction of the 62,241 features is sufficient to predict age"

#SciAdv 2024
www.science.org/doi/10.1126/...

🔬𝐓𝐫𝐢𝐩𝐥𝐞-𝐍𝐞𝐠𝐚𝐭𝐢𝐯𝐞 𝐁𝐫𝐞𝐚𝐬𝐭 𝐂𝐚𝐫𝐜𝐢𝐧𝐨𝐦𝐚 (𝐍𝐒𝐓) 🔬

⚠️ Pitfall alert

- TNBCs can have a range of morphologies

- DCIS is usually absent

- ❌ GATA3

- ✔️ SOX10 (mimic melanoma)

- Always do keratin + review patients history

#Breastpath #Dermpath #Pathtwitter #Pathresidents

⚕️ 𝗧𝗵𝗼𝗿𝗮𝗰𝗶𝗰 𝗦𝗠𝗔𝗥𝗖𝗔𝟰-𝗗𝗲𝗳𝗶𝗰𝗶𝗲𝗻𝘁 𝗨𝗻𝗱𝗶𝗳𝗳𝗲𝗿𝗲𝗻𝘁𝗶𝗮𝘁𝗲𝗱 𝗧𝘂𝗺𝗼𝘂𝗿 (𝗦𝗗𝗨𝗧)⚕️

As discussion below:

www.linkedin.com/posts/trista...

#Pathtwitter #Pulmpath #BSTpath

Summary
Why this matters: Recognizing these features can aid in early diagnosis, especially in patients with a family history or symptoms suggestive of HLRCC.

5/ Histological Features of FHD RCC:
🌴 Papillary, tubular, or solid patterns (occasionally nests).
🔴 Eosinophilic nucleoli resembling inclusions.
⭕ Perinuclear halos.

Image of primary renal tumour in case below

4/ The Role of Fumarate Hydratase (FH):
FH is part of the The Citric Acid cycle (TCA), crucial for ATP production.
When mutated or lost (as seen on IHC), fumarate accumulates, creating a pseudo-hypoxic state.
This triggers transcription factors that suppress apoptosis and drive proliferation.

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

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/

1/ Demographics:
Commonly affects individuals aged ~30-40 years.
Current data suggests equal risk across genders (M = F).

2/ Other Associated Tumours/Lesions:
🔴 Steroid cell tumours, including Leydig cell tumours
🩸 Phaeochromocytomas
⭕ Adrenal nodular hyperplasia

pubmed.ncbi.nlm.nih.gov/12772087/

𝐌𝐞𝐭𝐚𝐬𝐭𝐚𝐭𝐢𝐜 𝐅𝐮𝐦𝐚𝐫𝐚𝐭𝐞 𝐇𝐲𝐝𝐫𝐚𝐭𝐚𝐬𝐞 𝐃𝐞𝐟𝐢𝐜𝐢𝐞𝐧𝐭 𝐑𝐞𝐧𝐚𝐥 𝐂𝐞𝐥𝐥 𝐂𝐚𝐫𝐜𝐢𝐧𝐨𝐦𝐚 (𝐅𝐇𝐃 𝐑𝐂𝐂)

𝐅𝐇𝐃 𝐑𝐂𝐂 is a rare and highly aggressive tumour with a devastating prognosis—most cases present with metastases at diagnosis. Here’s what to know, a thread 🧵
#pathtwitter #GUpath #Medicine #Oncology #BSTpath