Molecular Pathology of Hematologic Malignancies

Abstract

Hematological malignancies represent a heterogeneous group of diseases that may have overlapping clinical manifestations. Successful and optimal management depends on early and accurate diagnosis of the disease. Differential diagnosis therefore requires methods of morphology, immunohistochemistry, flow cytometry, and also molecular and cytogenetic examinations. Molecular diagnostic techniques are becoming more accurate and sophisticated, which is why nowadays hematopathological diagnosis relies heavily on molecular and cytogenetic analyses. They are beneficial not only for diagnosis, but also for evaluating prognostic and risk markers, as well as treatment monitoring. This article presents an overview of selected hematological malignancies – mature lymphoid neoplasms, multiple myelomas, myeloproliferative neoplasms, myelodysplastic syndromes, and acute myeloid leukemias; their molecular pathology, risk and prognostic markers. Understanding of the biologic basis leds to a targeted therapy development for the treatment of these diseases.

Keywords

• hematologic malignancies
• molecular pathology
• recurrent mutations
• genetic alterations