Myelodysplastic neoplasms<\/strong> (MDS)<\/strong>, or myelodysplastic neoplasms<\/strong>, are a group of blood diseases in which bone marrow cells fail to properly complete their maturation pathway to become functioning blood cells, or do not survive for long.<\/p>\n\n\n\n MDS are considered clonal<\/strong> diseases because the origin of the disease is linked to a single cell undergoing DNA changes. This cell, escaping normal control mechanisms, multiplies giving rise to cells altered in form and function, transmitting the “defect” to subsequent cells. The result isaltered production of white blood cells, red blood cells, or platelets<\/strong>, and sometimes an increase in the still immature white blood cell precursors, called blasts<\/strong>, found in the bone marrow or blood.<\/p>\n\n\n\n Myelodysplastic syndromes are divided into several subtypes<\/strong> based on blood and bone marrow test results. Over the years, the classification of MDS has changed due to new knowledge about genetic alterations<\/strong>, both at the level of chromosomes and individual genetic mutations, and in 2022 it was updated by the WHO<\/strong> andICC<\/strong> international guidelines.<\/p>\n\n\n\n Today MDS are divided into several groups:<\/p>\n\n\n\n This classification allows physicians to better understand the behavior of the disease<\/strong> and choose the most appropriate treatment for each patient, tailoring care<\/strong> to the specific characteristics of MDS.<\/p>\n\n\n\n Myelodysplastic syndromes are rare diseases<\/strong>. In Italy, there are an estimated 5,000 new cases<\/strong> per<\/strong> year, with an annual incidence ranging from 2 to 10 cases per 100,000 population<\/strong>, depending on age and sex. These diseases are more common among men<\/strong> and tend to increase with age, reaching more than 15 to 30 cases per 100,000 population<\/strong> in people older than 70 years<\/strong>.<\/p>\n\n\n\n The symptoms and course vary significantly from patient to patient, depending on the type of blood cell affected:<\/p>\n\n\n\n Some patients, however, may have no symptoms<\/strong> at the time of diagnosis, and the disease is diagnosed as a result of altered blood counts performed during routine examinations.<\/p>\n\n\n\n The causes of the development of<\/strong> myelodysplasia are in most cases unknown; they are not hereditary diseases, however, there are rare familial forms.<\/p>\n\n\n\n MDS mainly occurs in people of advanced age<\/strong>. Instead, in some cases myelodysplasia<\/strong> is secondary toexposure to certain chemicals<\/strong> such as benzene, lead, solvents, or previous chemotherapy or ionizing radiation.<\/p>\n\n\n\n The diagnostic pathway of myelodysplasias usually begins with the finding of altered blood counts such as<\/strong>anemia, neutropenia, thrombocytopenia or macrocytosis <\/strong>(enlarged red blood cells).<\/p>\n\n\n\n If these changes are persistent and not attributable to other causes, the patient should be referred forspecialist consultation with an oncohematologist<\/strong> to quickly perform the necessary diagnostic investigations to initiate targeted therapy. In order to make the diagnosis, the specialist first schedules tests on the<\/strong> patient’s circulating blood and marrow blood<\/strong>. <\/p>\n\n\n\tTypes<\/h3>\n\n\n\n
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