Distribution of JAK2, MPL and CALR mutations in patients with suspected Phi negative myeloproliferative neoplasms from Buenos Aires public hospitals
Vol. 22 No. 2 (2018), Original articles
Vol. 22 No. 2 (2018)

Distribution of JAK2, MPL and CALR mutations in patients with suspected Phi negative myeloproliferative neoplasms from Buenos Aires public hospitals

Original articles
Published 2019-01-15
Y Sieza
Laboratorio de Biología Molecular-Genética
I Di Camilo
Laboratorio de Biología Molecular-Genética. Hospital Interzonal de Agudos Especializado en Pediatría Sor María Ludovica de La Plata
L Mazziotta
Laboratorio de Biología Molecular-Genética. Hospital Interzonal de Agudos Especializado en Pediatría Sor María Ludovica de La Plata
ML Archuby
Laboratorio de Biología Molecular-Genética. Hospital Interzonal de Agudos Especializado en Pediatría Sor María Ludovica de La Plata
ME Riva
Laboratorio de Biología Molecular-Genética. Hospital Interzonal de Agudos Especializado en Pediatría Sor María Ludovica de La Plata
L Orellano
Laboratorio de Biología Molecular-Genética. Hospital Interzonal de Agudos Especializado en Pediatría Sor María Ludovica de La Plata
ISSN 2250-8309 (versión en línea) - ISSN 0329-0379 (versión impresa)
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Keywords

cMPN, mutations, JAK2, CALR, MPL

How to Cite

Sieza, Y., Di Camilo, I., Mazziotta, L., Archuby, M., Riva, M., & Orellano, L. (2019). Distribution of JAK2, MPL and CALR mutations in patients with suspected Phi negative myeloproliferative neoplasms from Buenos Aires public hospitals. Journal of Hematology, 22(2), 151–156. Retrieved from https://www.revistahematologia.com.ar/index.php/Revista/article/view/20
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Abstract

Chronic myeloproliferative neoplasms (MPN) are clonal disorders of hematopoiesis with proliferation of one or more myeloid lines. Policytemia vera (PV), essential thrombocytemia (ET) and primary myelofibrosis (PMF) are usually referred to as “classical” (cMPN). Mutations in JAK2, MPL and CALR are the main molecular markers of cMPN and they are part of the diagnostic criteria. Methods: Samples from patients with suspected cMPN coming from 15 different hospitals in Provincia de Buenos Aires from 2010 to October 2017, were retrospectively analyzed for mutations in JAK2, MPL and CALR using end point PCR. The distribution pattern of mutations was evaluated for the whole group of cMPN and for each individual entity. Results: Samples from 325 patients with suspected cMPN were included, 129 PV, 147 TE and 49 MF. Mutations were detected in 224: JAK2 V617F in 198, CALR in 18 y MPL in 8. Analysis of the distribution pattern of mutations in each entity was performed. Suspected PV (129) were positive for JAK2V617F in 96. In ET (147) JAK2V617F was positive in 82, CALR mutations in 13 and MPL mutations in 4. In the case of MF (49), JAK2V617F was positive in 20, CALR in 5 and MPL in 4. Conclusions: Analysis of mutations in JAK2, MPL and CALR led to diagnosis in 68,9% of patients. JAK2 V617F was found in 88,4%, CALR and MPL mutations were positive in 8 and 3,6% respectively. Patients studied to confirm PV rendered positive results for JAK V617F in 74,4%. Those with probable ET were positive for JAK2 V617F in 55,8%, whereas CALR and MPL were mutated in 8,8 and 2,7% respectively. The ones with probable MF were found positive for JAK 2V617F in 40,8%, with mutations of CALR in 10,2% and MPL in 8,2%.

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