“Molecular profiling is a critical part of diagnosis in acute myeloid leukemia.” This was underlined by Maria Teresa Voso, full professor of Hematology at the Tor Vergata University and head of the advanced oncohematological diagnostics laboratory at the Tor Vergata Polyclinic in Rome, on the occasion of the media tutorial created with Servier on the most advanced frontier of precision oncology, which was held this morning in Rome.
“Acute myeloid leukemia is a blood cancer that affects around 2,100 people in Italy every year. It is one of the most insidious and difficult to treat hematological diseases, which requires timely treatment”, explains the specialist. “Progress in the field of molecular analysis and DNA sequencing – highlights Voso – have made it possible to identify recurrent genetic mutations, not detectable with standard cytogenetic tests. International guidelines recommend carrying out genetic tests at the time of diagnosis in all patients. Up to 50% have at least one mutation potentially ‘actionable’ for targeted therapy. Mutations affecting the Idh genes are among the most common: those of Idh1 are present in approximately 10% of cases, those of Idh2. in 10-15%”.
The European Commission has approved ivosidenib in combination with a hypomethylating agent, azacitidine, for the treatment of adult patients with newly diagnosed acute myeloid leukemia with the Idh1 mutation, who are not eligible to receive standard induction chemotherapy. “In the Agile study, published in the ‘New England Journal of Medicine’ – reports the expert – targeted therapy with ivosidenib in combination with azacitidine in the first line tripled the median overall survival compared to placebo and azacitidine, 2 years versus 7.9 months”. This is an important result for an insidious disease such as acute myeloid leukemia.
“Anemia, tiredness, pallor, bleeding and hematomas, linked to the lack of platelets, are the main symptoms – describes Voso – Survival 5 years after diagnosis today is around 30%”. Rates are lower for those who are not eligible for intensive chemotherapy. “The majority of cases – continues the expert – present at an advanced age and the average age at diagnosis is 69 years. Elderly or frail patients are not able to tolerate standard intensive chemotherapy, followed by allogeneic cell transplant stem cells, if indicated. For this reason, in cases where the Idh1 gene mutation is present, the possibility of being able to access targeted therapy with ivosidenib, in combination with azacitidine, represents an important opportunity for many patients”.
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