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

Meredith A. Lakey, Animesh D Pardanani, James Hoyer, Phuong L. Nguyen, Terra L. Lasho, Ayalew Tefferi, Curtis A. Hanson

Research output: Contribution to journalArticle

15 Citations (Scopus)

Abstract

The diagnosis of polycythemia vera (PV) requires the integration of clinical and laboratory findings, bone marrow morphologic features, and JAK2 analysis. JAK2V617F (exon 14) mutation is found in 95% of PV cases. Functionally similar mutations in JAK2 exon 12 have also been described, but a thorough bone marrow study has not been done. We identified 7 PV cases with exon 12 mutations; all had hypercellular bone marrow with erythroid hyperplasia. Small, atypical megakaryocytes predominated; atypical megakaryocyte lobation and abnormal chromatin distribution was identified in all cases. Rare clusters of megakaryocytes could be found but were typically subtle. Because JAK2 exon 12-positive PV cases lack the classic myeloproliferative morphologic features, bone marrow samples from the patients may be difficult to classify as myeloproliferative neoplasms. Clinically suspected PV with low serum erythropoietin and absent JAK2V617F, together with the bone marrow findings of erythroid hyperplasia and subtle megakaryocytic atypia, should prompt an evaluation for an exon 12 mutation.

Original languageEnglish (US)
Pages (from-to)942-948
Number of pages7
JournalAmerican Journal of Clinical Pathology
Volume133
Issue number6
DOIs
StatePublished - Jun 2010

Fingerprint

Polycythemia Vera
Exons
Bone Marrow
Megakaryocytes
Mutation
Hyperplasia
Erythropoietin
Chromatin
Serum
Neoplasms

Keywords

  • Bone marrow
  • JAK2
  • Myeloproliferative neoplasms
  • Polycythemia vera

ASJC Scopus subject areas

  • Pathology and Forensic Medicine

Cite this

Bone marrow morphologic features in polycythemia vera with JAK2 exon 12 mutations. / Lakey, Meredith A.; Pardanani, Animesh D; Hoyer, James; Nguyen, Phuong L.; Lasho, Terra L.; Tefferi, Ayalew; Hanson, Curtis A.

In: American Journal of Clinical Pathology, Vol. 133, No. 6, 06.2010, p. 942-948.

Research output: Contribution to journalArticle

Lakey, Meredith A. ; Pardanani, Animesh D ; Hoyer, James ; Nguyen, Phuong L. ; Lasho, Terra L. ; Tefferi, Ayalew ; Hanson, Curtis A. / Bone marrow morphologic features in polycythemia vera with JAK2 exon 12 mutations. In: American Journal of Clinical Pathology. 2010 ; Vol. 133, No. 6. pp. 942-948.
@article{0b7bbd38ca4d4509a4beaa89a0dbb3f3,
title = "Bone marrow morphologic features in polycythemia vera with JAK2 exon 12 mutations",
abstract = "The diagnosis of polycythemia vera (PV) requires the integration of clinical and laboratory findings, bone marrow morphologic features, and JAK2 analysis. JAK2V617F (exon 14) mutation is found in 95{\%} of PV cases. Functionally similar mutations in JAK2 exon 12 have also been described, but a thorough bone marrow study has not been done. We identified 7 PV cases with exon 12 mutations; all had hypercellular bone marrow with erythroid hyperplasia. Small, atypical megakaryocytes predominated; atypical megakaryocyte lobation and abnormal chromatin distribution was identified in all cases. Rare clusters of megakaryocytes could be found but were typically subtle. Because JAK2 exon 12-positive PV cases lack the classic myeloproliferative morphologic features, bone marrow samples from the patients may be difficult to classify as myeloproliferative neoplasms. Clinically suspected PV with low serum erythropoietin and absent JAK2V617F, together with the bone marrow findings of erythroid hyperplasia and subtle megakaryocytic atypia, should prompt an evaluation for an exon 12 mutation.",
keywords = "Bone marrow, JAK2, Myeloproliferative neoplasms, Polycythemia vera",
author = "Lakey, {Meredith A.} and Pardanani, {Animesh D} and James Hoyer and Nguyen, {Phuong L.} and Lasho, {Terra L.} and Ayalew Tefferi and Hanson, {Curtis A.}",
year = "2010",
month = "6",
doi = "10.1309/AJCP3Z2AKUWRGTNM",
language = "English (US)",
volume = "133",
pages = "942--948",
journal = "American Journal of Clinical Pathology",
issn = "0002-9173",
publisher = "American Society of Clinical Pathologists",
number = "6",

}

TY - JOUR

T1 - Bone marrow morphologic features in polycythemia vera with JAK2 exon 12 mutations

AU - Lakey, Meredith A.

AU - Pardanani, Animesh D

AU - Hoyer, James

AU - Nguyen, Phuong L.

AU - Lasho, Terra L.

AU - Tefferi, Ayalew

AU - Hanson, Curtis A.

PY - 2010/6

Y1 - 2010/6

N2 - The diagnosis of polycythemia vera (PV) requires the integration of clinical and laboratory findings, bone marrow morphologic features, and JAK2 analysis. JAK2V617F (exon 14) mutation is found in 95% of PV cases. Functionally similar mutations in JAK2 exon 12 have also been described, but a thorough bone marrow study has not been done. We identified 7 PV cases with exon 12 mutations; all had hypercellular bone marrow with erythroid hyperplasia. Small, atypical megakaryocytes predominated; atypical megakaryocyte lobation and abnormal chromatin distribution was identified in all cases. Rare clusters of megakaryocytes could be found but were typically subtle. Because JAK2 exon 12-positive PV cases lack the classic myeloproliferative morphologic features, bone marrow samples from the patients may be difficult to classify as myeloproliferative neoplasms. Clinically suspected PV with low serum erythropoietin and absent JAK2V617F, together with the bone marrow findings of erythroid hyperplasia and subtle megakaryocytic atypia, should prompt an evaluation for an exon 12 mutation.

AB - The diagnosis of polycythemia vera (PV) requires the integration of clinical and laboratory findings, bone marrow morphologic features, and JAK2 analysis. JAK2V617F (exon 14) mutation is found in 95% of PV cases. Functionally similar mutations in JAK2 exon 12 have also been described, but a thorough bone marrow study has not been done. We identified 7 PV cases with exon 12 mutations; all had hypercellular bone marrow with erythroid hyperplasia. Small, atypical megakaryocytes predominated; atypical megakaryocyte lobation and abnormal chromatin distribution was identified in all cases. Rare clusters of megakaryocytes could be found but were typically subtle. Because JAK2 exon 12-positive PV cases lack the classic myeloproliferative morphologic features, bone marrow samples from the patients may be difficult to classify as myeloproliferative neoplasms. Clinically suspected PV with low serum erythropoietin and absent JAK2V617F, together with the bone marrow findings of erythroid hyperplasia and subtle megakaryocytic atypia, should prompt an evaluation for an exon 12 mutation.

KW - Bone marrow

KW - JAK2

KW - Myeloproliferative neoplasms

KW - Polycythemia vera

UR - http://www.scopus.com/inward/record.url?scp=77952968054&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=77952968054&partnerID=8YFLogxK

U2 - 10.1309/AJCP3Z2AKUWRGTNM

DO - 10.1309/AJCP3Z2AKUWRGTNM

M3 - Article

C2 - 20472853

AN - SCOPUS:77952968054

VL - 133

SP - 942

EP - 948

JO - American Journal of Clinical Pathology

JF - American Journal of Clinical Pathology

SN - 0002-9173

IS - 6

ER -