By: Pankit Vachhani, MD
Date: 09/22/2023
The audience was eagerly awaiting the insights of Dr. Pankit Vachhani, a long-time friend and mentee. As the presentation commenced on “Myeloid/Lymphoid Neoplasms with Eosinophilia and TK Fusion Genes,” attendees were in for a comprehensive exploration of the topic. Despite his usual penchant for occupying the back seats, Dr. Vachhani humorously admitted, “Usually, I’m the guy who sits in the back of the room, but with those white lounge chairs, I couldn’t resist but sit over there and not hear.” As he delved into the presentation, Dr. Vachhani highlighted the significance of the topic, stating, “What this new name captures are the underlying theme that you have a rearrangement of genes, which is leading to activated tyrosine kinases and therefore downstream activation of multiple pathways.”
He proceeded to discuss the evolving nomenclature in the field, speculating, “If I had to guess, I would say maybe in the next version, we will see Eosinophilia out of the name, but that’s just me speculating.”
Dr. Vachhani outlined the complexities of the disease, emphasizing, “It’s a very heterogeneous disease present in varying different ways.”
When delving into specific gene rearrangements, Dr. Vachhani provided valuable insights. Regarding PDGFRA gene fusions, he pointed out, “The male-to-female ratio was eighteen to one. So every time someone brings up a case of a woman with the possibility of PDJFA that should first raise the question.”
He added an intriguing perspective, noting, “And then the other thing that’s interesting is that if patients respond to steroids, they probably don’t have this condition.”
Regarding PDGFRB gene rearrangements, Dr. Vachhani stressed, “So please make sure that if you see a 5q rearrangement, that it truly is PTGFRP rearrangement and not something else.”
Dr. Vachhani navigated through the intricacies of the diseases, explaining, “An extra majority component may be present alone or in conjunction with bone marrow or blood involvement.”
As the discussion shifted to FGFR1 rearrangements, he observed, “These are very unusual. Right? So, four FGFR receptors in our body, FGFR one, two, three, four, very uncommon as we will see in the upcoming slides.”
He highlighted the rarity of such rearrangements, stating, “If you go by the incidence of PTGFR AG infusions, there should be one woman with this gene rearrangement every fifteen to seventeen years. It’s that unusual.”