When to think about Fanconi anemia? Remember that genetic testing may be difficult to interpret and can be inconclusive - so correlation with clinical/functional studies is required. #ASH22 2/n 
Extra hematologic assessment is required -- look how many places to check outside of the CBC in these patients. Think about Moya moya in your Fanconi anemia patients and take off your patient's mask and check their oral cavity for squam/mucosal cancers. #ASH22 3/n
Hematologic assessment -- why? to intercept these patients to go to transplant -- not just with CBC checks but also looking for chromosomal abnormalities. 1q is NOT the same as these others! Save this #phodocs in your files! #ASH22 4/n
Why does this matter? the outcomes (5 yr OS) is 42% if it goes on to MDS/AML and you're trying to transplant then -- as opposed to matched family donors prior to MDS/AML which have 88% 5-yr OS! #ASH22 5/n
There are some but's -- transplant can increase risk of other malignancies, and some can survive a long time without transplant. Here is the protocol they use at Gaslini Children's Hospital! Saving this for SURE! #ASH22 6/n
#Eltrombopag results that I had not seen from before in these Fanconi anemia patients. And of course, non conditioning required Fanconi anemia gene therapy results. "Attractive and catchy experimental treatment" per Dr. Dufour #ASH22 7/7
• • •
Missing some Tweet in this thread? You can try to
force a refresh
