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Blood, 1 October 2006, Vol. 108, No. 7, pp. 2173-2181.
Prepublished online as a Blood First Edition Paper on June 1, 2006; DOI 10.1182/blood-2006-02-005751.
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Submitted February 23, 2006
Accepted May 24, 2006
Refractory anemia with ringed sideroblasts associated with marked thrombocytosis (RARS-T), another myeloproliferative condition characterized by JAK2 V617F mutation
Hadrian Szpurka, Ramon Tiu, Gurunathan Murugesan, Samer Aboudola, Eric D. Hsi, Karl S. Theil, Mikkael A. Sekeres, and Jaroslaw P. Maciejewski*
Taussig Cancer Center, The Cleveland Clinic Foundation
Taussig Cancer Center and Internal Medicine, The Cleveland Clinic Foundation
Clinical Pathology, The Cleveland Clinic Foundation
* Corresponding author; email: maciejj{at}ccf.org.
JAK2 V617F mutation was recently identified as a pathogenic factor in typical chronic myeloproliferative diseases (CMPD). Some forms of myelodysplastic syndromes (MDS) show a significant overlap with CMPD (classified as MDS/MPD) but the diagnostic assignment may be challenging. We studied blood or bone marrow from 270 patients with MDS, MDS/MPD, and CMPD for the presence of JAK2 V617F mutation using PCR, sequencing, and Melting Curve Analysis. The detection rate of JAK2 V617F mutants for PV, CIMF, and ET (n=103) was similar to the previously reported results. In typical forms of MDS (n=89) JAK2 V617F mutation was very rare (n=2). However, a higher prevalence of this mutation was found in patients with MDS/MPD-U (9/35). Within this group, most of the patients harboring JAK2 V617F mutation showed features consistent with the provisional MDS/MPD-U entity refractory anemia with ringed sideroblast and thrombocytosis (RARS-T). Among 9 RARS-T patients, 6 showed the presence of JAK2 V617F mutation, and in 1 patient without mutation, aberrant, positive phospho-STAT5 staining was seen that is typically present only in association with JAK2 V617F mutation. In summary, we found that RARS-T reveals a high frequency of JAK2 V617F mutation, and likely constitutes another JAK2 mutation-associated form of CMPD.
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