Jeffrey Gagan MD, PhD

@NCIKenAldape LCH

Methylation Case of the Week: 8 year old male with a left parietal bone lesion. S100 and CD1A-positive. EM was not done but it would've shown characteristic features. Any thoughts on what this might be? #neuropath #pathology #PathTwitter

In this upcoming webinar, Dr. Annapurna Saksena of the University of Pennsylvania, will discuss the relationships of methylation-defined groups to a variety of HL tumor types to determine the feasibility of methylation as a diagnostic modality. Register now.

@NCIKenAldape Subependymal giant cell astrocytoma with TSC1/2 mutation?

Methylation Case of the Week: 11 year old female with a right ventricular mass. GFAP- Synapto- and TTF1- positive. DNA sequencing showed a (diagnostically helpful) mutation. Giving enough information So Everyone Gets the Answer. #neuropath #pathology #PathTwitter

@sanamloghavi Not disagreeing with you in the slightest, but I pay for a password manager that lets me tag my various editoral manager logins with the journal name. It's worth every penny.

My (repeat) plea to journals & journal editors. Pls put a direct link to the paper in your invitation for review. If you’re asking me to log into your portal w/ username/password that I can’t remember, chances R 💯 that I will delete the email. Thanks 🙏🏻 #AcademicTwitter

I just had a cashier tell me “Stay safe out there” and she was referring to driving when the Texas-Oklahoma football game ends.

@jim_bo_ Don't be fooled by the framing, we were not out in the middle of the woods. Most of the animals I came across had a surprising tolerance for humans.

@grumpymdphd I would bearly be able to keep the camera steady in this scenario.

I just got back from a nature photography workshop in Jackson Hole. It was a great experience, and the primary lesson for me is that always being the expert in the room is unhealthy. Find situations where you are at the bottom of the learning curve and push yourself up it.

@emilygironda @BLACKPINK You monster

@grumpymdphd Rosé of @BLACKPINK, right? Du-du, du-du-du-du-du

Happy birthday to my amazing wife @emilygironda. Spending my life with someone who wants to go a K pop concert one week and then the opera the next has been amazing. I can't wait to see what new adventures and rabbit holes we find ourselves down in the future.

@emilygironda I didn't mention the group or my favorite member, so I think we're safe.

@grumpymdphd Sir, are you using my birthday to go viral in the Philippines again? I thought you learned your lesson about using the K-word on Twitter

To anyone thinking of reminding me, I promise I know when the USCAP submission deadline is. It's circled on my calendar every year.

Both exons have a "G" in the exon-intron boundary position, so it's ambiguous to the mapper where it belongs when deleted. So look at the first image again. The G>A variant destroys the normal splice site, but creates a new one just shifted 1bp, creating a frameshift mutation.

There are a bunch of reads where the splice donor site is moved 1bp into the exon.

Splice variant analysis time: Variant in the -1 site, first thing to check is whether the VAFs in the DNA and RNA are equivalent. In this case they are.

Don't procrastinate on getting your hotel either. Speaking from experience on this one!

@DrJPLow @DrCycloPath @NCIKenAldape I think the "GAP" is a double play on HGAP with an NF1 mutation. NF1 is a GTPase activating protein (GAP).

@DrCycloPath @NCIKenAldape I agree ! I'm not getting the gap either.. But would guess HG astro with piloid features?

Methylation Case of the Week: 52 year old male with cerebellar tumor. IDH1(R132H)-negative, ATRX loss in tumor cells, H3 K27me3-retained. CDKN2A homozygous loss is present. Can you fill the GAP to reach a diagnosis? #PathTwitter #pathology #neuropath

This is BS

@pde158 @BMJOncology I don't want to get into specifics, but cancer screening is a much more nuanced topic than even many physicians appreciate. We will never have something as good as a pap test for every cancer. I recommend reading this book for background. goodreads.com/book/show/1338…

@grumpymdphd @BMJOncology It seems the problem for many is what’s considered “normal” PSA results. So how do men know when they should ask for an MRI, a lengthy test in a very limited number of machines?

The chief investigator of the BMJ Oncology study said it was “a sobering thought” that more than half of the men who had serious cancer “would have been reassured that they didn’t have cancer by a PSA test alone”. telegraph.co.uk/news/2023/08/2…

@pde158 @BMJOncology No, the article is saying that MRI found serious disease in men with normal PSA levels.

@BMJOncology My experience is that PSA results only give an indication that there may be a prostate problem. If the PSA numbers are too high, an MRI will show what the whole prostate looks like but a biopsy will still be necessary to determine the nature of the MRI’s findings. Am I correct?