Diagnosis is juvenile papilomatosis.
Observe "swiss-cheese appearance" in gross and microscopy.
Other conditions with Swiss cheese appearance
Juvenile papillomatosis is associated with Noonan syndrome and neurofibromatosis type 1.
Which molecular pathway is common between these two conditions?
Both Noonan syndrome and Neurofibromatosis type 1 are RAS-opathies. Disorders affecting the RAS/MAPK pathway.
Some other RAS-opathies are in the image.
Juvenile papilomatosis can transform into breast carcinoma in about 10-20 % cases.
Which subtype of breast carcinoma do you think is common in Juvenile papilomatosis?
Secretory breast carcinoma are common to arise in individuals with juvenile papilomatosis.
Secretory breast carcinomas harbour ETV6-NTRK3 fusion- Pin about secretory caacinoma. pin.it/1H92KrA
Other conditions with ETV6-NTRK3 fusion 📌- pin.it/1nfNkQn
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A 68-year old male presented with arthralgias and skin rashes. A complete blood count performed shows MCV of 80 fl and low platelet count. Peripheral smear and bone marrow images are shown. Which mutation is likely to be identified in this condition? #pathoboards#pathtweetorial
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VEXAS Syndrome- mutations identified in UBA1 gene.
Some key features (images)