AndrewFolpe
@folpe-mn-st.bsky.social
I like my wife and family, bikes, music, dogs, baking bread and soft tissue tumors. Only the last here though.
This is classic morphology for a GLI1 coamplified differentiated liposarcoma with perineurial-like whorls. So now the MDM2 amplification makes sense. The current tumor is showing essentially classical features of a GLI1 amplified soft tissue sarcoma. So the morphology/molecular explain each other.
June 12, 2025 at 9:10 PM
This is classic morphology for a GLI1 coamplified differentiated liposarcoma with perineurial-like whorls. So now the MDM2 amplification makes sense. The current tumor is showing essentially classical features of a GLI1 amplified soft tissue sarcoma. So the morphology/molecular explain each other.
Well, it turned out he had a tumor in the same laryngeal location a few years ago, diagnosed as a “fibroinflammatory lesion with some features of IgG4 disease”.
June 12, 2025 at 9:06 PM
Well, it turned out he had a tumor in the same laryngeal location a few years ago, diagnosed as a “fibroinflammatory lesion with some features of IgG4 disease”.
A big panel of IHC was negative. For somewhat unclear reasons, MDM2 FISH was ordered and was amplified. Does this make any sense?
June 12, 2025 at 9:03 PM
A big panel of IHC was negative. For somewhat unclear reasons, MDM2 FISH was ordered and was amplified. Does this make any sense?
It’s also got some bland spindle cell areas.
June 12, 2025 at 9:02 PM
It’s also got some bland spindle cell areas.
Epithelioid angiosarcoma with extensive intravascular growth. Obviously there must be a right sided primary. There’s supposed to be a liver mass.
June 5, 2025 at 7:20 PM
Epithelioid angiosarcoma with extensive intravascular growth. Obviously there must be a right sided primary. There’s supposed to be a liver mass.
Just because the ddx includes intravascular lymphoma (at one time known as “intravascular angioendothelioma”), the first pic is CD20. The others of course are CD31 and CD34.
June 5, 2025 at 7:17 PM
Just because the ddx includes intravascular lymphoma (at one time known as “intravascular angioendothelioma”), the first pic is CD20. The others of course are CD31 and CD34.
So- desmoid fibromatosis with bizarre cells and p53 mutant pattern- r/o Li-Fraumeni syndrome.
Happy Friday!
pubmed.ncbi.nlm.nih.gov/36908221/
Happy Friday!
pubmed.ncbi.nlm.nih.gov/36908221/
Desmoid Fibromatosis With TP53 Mutation and Striking Nuclear Pleomorphism - PubMed
Desmoid fibromatosis is a myofibroblastic neoplasm of intermediate biologic potential, which has a strong predilection for local recurrence but does not metastasize. Arranged in long, sweeping fascicl...
pubmed.ncbi.nlm.nih.gov
May 30, 2025 at 5:38 PM
So- desmoid fibromatosis with bizarre cells and p53 mutant pattern- r/o Li-Fraumeni syndrome.
Happy Friday!
pubmed.ncbi.nlm.nih.gov/36908221/
Happy Friday!
pubmed.ncbi.nlm.nih.gov/36908221/
There is a single case report of a desmoid occurring in a Li-Fraumeni patient, with identical morphology. p53 IHC done on this case shows a null/mutated pattern.
May 30, 2025 at 5:36 PM
There is a single case report of a desmoid occurring in a Li-Fraumeni patient, with identical morphology. p53 IHC done on this case shows a null/mutated pattern.
Fear not. It’s also got these really bizarre cells, all over the place. Those don’t belong in a desmoid! Not a desmoid? Or is there another explanation?
May 30, 2025 at 5:33 PM
Fear not. It’s also got these really bizarre cells, all over the place. Those don’t belong in a desmoid! Not a desmoid? Or is there another explanation?
I wrote a complaint.
May 20, 2025 at 9:42 PM
I wrote a complaint.
Pics would be nice, right?
May 20, 2025 at 9:33 PM
Pics would be nice, right?
It’s diffusely positive for SS18-SSX fusion protein and SSX c-terminus antibody. Monophasic synovial sarcoma, with nuclear palisading. Yes, I’ve seen this before. No, not anywhere near this much. pubmed.ncbi.nlm.nih.gov/32141887/
A Novel SS18-SSX Fusion-specific Antibody for the Diagnosis of Synovial Sarcoma - PubMed
Synovial sarcoma (SS), an aggressive soft tissue sarcoma with a predilection for the extremities of young adults, harbors the pathognomonic t(X;18)(p11;q11) translocation, resulting in SS18-SSX rearra...
pubmed.ncbi.nlm.nih.gov
May 20, 2025 at 9:32 PM
It’s diffusely positive for SS18-SSX fusion protein and SSX c-terminus antibody. Monophasic synovial sarcoma, with nuclear palisading. Yes, I’ve seen this before. No, not anywhere near this much. pubmed.ncbi.nlm.nih.gov/32141887/
Oops, I forgot the MDM2 photo.
May 14, 2025 at 3:29 PM
Oops, I forgot the MDM2 photo.
This is actually a rather spectacular example of dedifferentiated liposarcoma with epithelioid/ epithelial features, a rather rare but reported phenomenon. pubmed.ncbi.nlm.nih.gov/28719466/
Dedifferentiated Liposarcoma With Epithelioid/Epithelial Features - PubMed
Dedifferentiated liposarcoma (DDLPS) demonstrates a variety of growth patterns, and their histologic resemblance to other spindle cell mesenchymal tumors has been widely recognized. However, epithelio...
pubmed.ncbi.nlm.nih.gov
May 14, 2025 at 3:28 PM
This is actually a rather spectacular example of dedifferentiated liposarcoma with epithelioid/ epithelial features, a rather rare but reported phenomenon. pubmed.ncbi.nlm.nih.gov/28719466/
Now, it turns out that she has a clinical history of retroperitoneal dedifferentiated liposarcoma, with multiple local recurrences over a decade. Here’s the MDM2 IHC, diffusely and strongly positive. FISH was also done and 100% of cells showed high level gene amplification.
May 14, 2025 at 3:26 PM
Now, it turns out that she has a clinical history of retroperitoneal dedifferentiated liposarcoma, with multiple local recurrences over a decade. Here’s the MDM2 IHC, diffusely and strongly positive. FISH was also done and 100% of cells showed high level gene amplification.
Metastatic carcinoma, obviously. A big clinical work up didn’t identify a primary tumor, and a very broad panel of site-directed markers, including neuroendocrine markers, was negative. So, yet another carcinoma of unknown primary, right?
May 14, 2025 at 3:22 PM
Metastatic carcinoma, obviously. A big clinical work up didn’t identify a primary tumor, and a very broad panel of site-directed markers, including neuroendocrine markers, was negative. So, yet another carcinoma of unknown primary, right?