To enhance the therapeutic options for the patient, a genomic analysis was performed and a molecular tumor board report was filed, noting a microsatellite instability of only 0.8%, an ATRX (alpha thalassemia/mental retardation syndrome X-linked) frameshift mutation, MYCL and RICTOR (Rapamycin-insensitive companion of mTOR) amplification and KDM6A (Lysine-specific demethylase 6 A) biallelic loss. This evidence concerns the gene PSMB5 and alpha thalassemia spectrum.