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Acute Promyelocytic Leukemia, effective treatments also thanks to Italian research

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Acute Promyelocytic Leukemia, effective treatments also thanks to Italian research

Acute Promyelocytic Leukemia (APL) is a form of Acute Myeloid Leukemia (AML) characterized by alterations in blood coagulation and, in particular, by a high risk of serious bleeding. In most cases, LAP requires emergency interventions from the first clinical manifestations, which can otherwise be fatal. But thanks to the research work carried out at an international level, and to which several Italian scientists have made a substantial contribution, today the disease is treatable without chemotherapy, with response rates to treatments approaching 100%.

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Cause, incidence and symptoms

The “genetic signature” of LAP it consists of a reciprocal exchange of genetic material between chromosomes 15 and 17, known as the t(15;17) translocation. This exchange leads to the production of an aberrant protein that causes disease. The genetic characteristics of LAP were identified for the first time in 1977 by the American geneticist Janet Rowley. Subsequently, in 1991, a group of researchers led by Francesco Lo Coco e Giuseppe Pelicci identified the RAR alpha and PML genes involved in the t(15;17) translocation, which distinguishes APL from other forms of AML.

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On average, APL appears around the age of 40 and constitutes approximately 10-15% of total cases of acute myeloid leukemia. Men and women are equally likely to be affected by the disease. Some of the characteristic symptoms are spontaneous bleeding of the gums and the appearance of bruises and spots on the skin due to small hemorrhages. Typically, patients with LAP present a significant decrease in platelet, red blood cell and white blood cell levels.

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Without chemotherapy

Last 10 and 11 April, the eighth edition of the GIMEMA (Italian Group of Adult Hematological Diseases) International Symposium on LAP took place in Rome, during which some innovative therapies were discussed, as well as new discoveries on the possible complications of the disease . According to the data presented by Maria Teresa Voso, full professor of hematology at the University Hospital of Rome Tor Vergata and among the scientific coordinators of the event, the combination of all-trans retinoic acid (a derivative of vitamin A) and arsenic trioxide, two “target” molecules that allow to avoid chemotherapy has proven to be the best therapeutic option for “standard” risk groups, with high long-term survival rates and a reduced probability of relapse compared to other therapeutic regimens. The data presented by Voso are based on the Harmony database, which collects information relating to a large number of patients suffering from LAP and which aims to allow the identification of factors related to long-term survival.

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The great Italian contribution

The intuition of proposing treatments based on specific drugs, which allow us to avoid chemotherapy, was Franco Mandelli, founder of the GIMEMA group. Mandelli e Francesco Lo Cocowho was full professor of hematology at Tor Vergata University and coordinator of the Study Group on LAP for GIMEMA, managed to demonstrate the effectiveness of this approach, identifying a treatment that Marco Vignettihematologist president of GIMEMA Onlus Foundation – Franco Mandelli Onlusdefines it as “a model for all cancer research” precisely because of its effectiveness.

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The edition of the symposium that just ended was dedicated to Lo Coco: “He – concludes Vignetti – wanted the Symposium on Acute Promyelocytic Leukemia for the first time in Italy, entitled ‘APL, a curable disease?’. Today that question mark no longer exists, and the diagnostic and therapeutic protocols of the GIMEMA group that Francesco coordinated and which allow almost all patients with LAP to be cured are applied throughout the world.”

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