Background: Molecular interrogation of genetic information has transformed our understanding of disease and is now routinely integrated into the workup and monitoring of hematological malignancies. In this article, a brief but comprehensive review is presented of state-of-the-art testing in hematological disease.

Methods: The primary medical literature and standard textbooks in the field were queried and reviewed to assess current practices and trends for molecular testing in hematopathology by disease.

Results: Pertinent materials were summarized under appropriate disease categories.

Conclusion: Molecular testing is well entrenched in the diagnostic and therapeutic pathways for hematological malignancies, with rapid growth and insights emerging following the integration of next-generation sequencing into the clinical workflow.

INTRODUCTION

Perhaps in no other field of oncology is the routine use of molecular markers more integrated into the diagnostic, prognostic, and therapeutic workup of disease as in the realm of hematological malignancies.

Molecular diagnostics is a burgeoning field in the era of personalized medicine, with high-volume laboratories running 10,000 molecular tests or more every year, many of which are for the workup of leukemia and lymphoma.1,2

Molecular testing has wide applicability in hematopathology, guiding diagnosis (eg, TCR gene rearrangement to establish T-cell clonality), subclassification (eg, recurrent cytogenetic translocations in acute myeloid leukemia [AML]), prognosis (eg, Philadelphia chromosome–positive [Ph+ ] in acute lymphoblastic leukemia [ALL]), and minimal residual disease testing (eg, BCR-ABL transcripts in chronic myelogenous leukemia [CML]).