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Bone marrow morphologic features in polycythemia vera with JAK2 exon 12 mutations.

Meredith A Lakey¹, Animesh Pardanani, James D Hoyer

¹Division of Hematopathology. Mayo Clinic College of Medicine, 200 1st Street SW, Rochester, MN 55905, USA.

American Journal of Clinical Pathology

|May 18, 2010

Summary

Polycythemia vera (PV) diagnosis involves clinical, lab, and bone marrow findings. JAK2 exon 12 mutations, though rare, present unique bone marrow features requiring specific diagnostic evaluation.

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Area of Science:

Hematology
Molecular Biology
Oncology

Background:

Polycythemia vera (PV) diagnosis relies on clinical, lab, bone marrow, and JAK2 mutation analysis.
The JAK2(V617F) mutation in exon 14 is present in 95% of PV cases.
JAK2 exon 12 mutations are less common but functionally similar.

Purpose of the Study:

To investigate the bone marrow morphologic features of PV cases with JAK2 exon 12 mutations.
To compare these features with classic PV presentations.
To improve diagnostic criteria for PV with JAK2 exon 12 mutations.

Main Methods:

Analysis of bone marrow morphology in 7 PV cases with identified JAK2 exon 12 mutations.
Detailed examination of cellularity, erythroid hyperplasia, and megakaryocyte characteristics.
Correlation of morphologic findings with clinical and laboratory data.

Main Results:

All 7 cases exhibited hypercellular bone marrow with prominent erythroid hyperplasia.
Atypical megakaryocytes, characterized by abnormal lobation and chromatin, predominated.
Subtle megakaryocyte clusters were observed, differing from classic myeloproliferative neoplasms.
Bone marrow findings may be challenging to classify as myeloproliferative neoplasms.

Conclusions:

PV cases with JAK2 exon 12 mutations present distinct bone marrow morphologic features.
Erythroid hyperplasia and subtle megakaryocytic atypia are key findings.
Suspected PV lacking JAK2(V617F) but with these bone marrow changes warrants JAK2 exon 12 mutation testing.