Can molecular patterns help to classify overlapping entities in myeloid neoplasms?

Area of Science:

• Hematology
• Oncology
• Molecular Diagnostics

Background:

• Myeloid neoplasms, including myeloproliferative neoplasms (MPNs), myelodysplastic neoplasms (MDS), and acute myeloid leukemia (AML), have historically relied on clinicopathological features for diagnosis.
• While molecular features are increasingly integrated, diagnostic challenges persist due to overlapping clinical and molecular presentations.

Purpose of the Study:

• To evaluate the role of molecular testing in refining the classification of myeloid neoplasms, particularly in cases with overlapping features.
• To discuss the future direction of myeloid neoplasm classification, emphasizing molecularly defined groups.

Main Methods:

• Review of current diagnostic approaches for myeloid neoplasms, incorporating both clinicopathological and molecular data.
• Analysis of specific diagnostic challenges, including overlaps between BCR::ABL1-negative MPNs, MDS, and clonal cytopenia of undetermined significance.

Main Results:

• Molecular testing is crucial for accurate diagnosis and classification of myeloid neoplasms, especially in overlapping entities.
• KIT mutations in myeloid neoplasms necessitate careful evaluation for systemic mastocytosis.
• Current molecular patterns aid in classifying overlapping entities when integrated with hematological presentations.

Conclusions:

• Molecular testing is the current standard for diagnosing myeloid neoplasms and is essential for resolving diagnostic ambiguities.
• Future classifications should prioritize genetically defined groups as the basis for understanding disease development.
• Clinicopathological features will likely transition to describing disease stage rather than specific neoplasm type.