🩸#HemePath AML subtype #PathTweetorial 🧵
Which cytogenetic/molecular finding is most consistent with this morphology? (Poll⬇️)
#PathTwitter #MolecularPath #MedEd @MayoClinicPath
(P.S. Always learning - I welcome any feedback!)
Which cytogenetic/molecular finding is most consistent with this morphology? AML with…
Answer: ✨inversion of chromosome 16 is associated with acute myeloid leukemia with abnormal eosinophils✨
These abnormal eosinophils have mixed eosinophilic and basophilic granules
How is the cytogenetic abnormality determined diagnostically? 🤔
A brief introduction to #cytogenetics… 🧬
Cytogenetics is the microscopic investigation of the DNA structure/content at the chromosomal level using banding of metaphase preparations 🦓
Banding = darker and lighter areas on a chromosome, which are reproducible across specimens 🦓
Most common type of banding is G-banding:
📌Dark bands: AT-rich, heterochromatic, fewer active genes
📌Light bands: CG-rich, euchromatic, more active genes
From Wikipedia ⬇️
Our talented technologists identify banded chromosomes by assessing (in order):
1️⃣ Chromosome size
2️⃣ Centromere position
3️⃣ Banding pattern
From @ASH_hematology and Wikipedia ⬇️
Cytogenetics studies are essential in making a diagnosis of AML with inv 16
🔎 This can be subtle on conventional karyotype, so further testing with FISH/molecular is warranted if the karyotype is normal but the morphology suggests inv 16
From PEIR @UABPathology ⬇️
The inversion of chromosome 16 (or the translocation t(16;16) leads to the fusion of CBF-beta and MYH11 🧬
CBF normally binds to enhancers/promoters of genes involved in hematopoiesis, increasing transcription of these target genes ➡️ hematopoietic differentiation/maturation
With the fusion gene, this process is blocked 🛑 ➡️ less transcription of target genes ➡️ less hematopoietic differentiation/maturation ➡️ disease
✨ Important to note that AML with inversion 16 is considered to be in the favorable risk category ✨
End 🧵
That’s all for this tweetorial! Thanks for following along 🤗
Again, always learning - I welcome any feedback or suggestions!
#PathTweetorial_CEJ #HemePath_CEJ
Link to the top of this tweetorial ⬇️
All my tweetorials are now archived on my website 🗂 (link in bio)
This one in particular is at pathcejmd.com/educational-ca…
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