Abstract
The hallmark of BCR-ABL1-negative myeloproliferative neoplasms (MPNs) is the presence of a driver mutation in JAK2, CALR, or MPL gene. These genetic alterations represent a key feature, useful for diagnostic, prognostic and therapeutical approaches. Molecular biology tests are now widely available with different specificity and sensitivity. Recently, the allele burden quantification of driver mutations has become a useful tool, both for prognostication and efficacy evaluation of therapies. Moreover, other sub-clonal mutations have been reported in MPN patients, which are associated with poorer prognosis. ASXL1 mutation appears to be the worst amongst them. Both driver and sub-clonal mutations are now taken into consideration in new prognostic scoring systems and may be better investigated using next generation sequence (NGS) technology. In this review we summarize the value of NGS and its contribution in providing a comprehensive picture of mutational landscape to guide treatment decisions. Finally, discussing the role that NGS has in defining the potential risk of disease development, we forecast NGS as the standard molecular biology technique for evaluating these patients.
| Original language | English |
|---|---|
| Article number | 321 |
| Journal | Frontiers in Oncology |
| Volume | 9 |
| Issue number | APR |
| DOIs | |
| Publication status | Published - Jan 1 2019 |
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Keywords
- ASXL1 mutation
- BCR-ABL1-negative myeloproliferative neoplasms (MPNs)
- Calreticulin (CALR)
- High molecular risk (HMR) mutations
- JAK2 mutations
- MPL (W515K/L)
- Myelofibrosis (MF)
- Next generation sequencing (NGS)
ASJC Scopus subject areas
- Oncology
- Cancer Research
Cite this
The role of new technologies in myeloproliferative neoplasms. / Palumbo, Giuseppe A.; Stella, Stefania; Pennisi, Maria Stella; Pirosa, Cristina; Fermo, Elisa; Fabris, Sonia; Cattaneo, Daniele; Iurlo, Alessandra.
In: Frontiers in Oncology, Vol. 9, No. APR, 321, 01.01.2019.Research output: Contribution to journal › Review article
}
TY - JOUR
T1 - The role of new technologies in myeloproliferative neoplasms
AU - Palumbo, Giuseppe A.
AU - Stella, Stefania
AU - Pennisi, Maria Stella
AU - Pirosa, Cristina
AU - Fermo, Elisa
AU - Fabris, Sonia
AU - Cattaneo, Daniele
AU - Iurlo, Alessandra
PY - 2019/1/1
Y1 - 2019/1/1
N2 - The hallmark of BCR-ABL1-negative myeloproliferative neoplasms (MPNs) is the presence of a driver mutation in JAK2, CALR, or MPL gene. These genetic alterations represent a key feature, useful for diagnostic, prognostic and therapeutical approaches. Molecular biology tests are now widely available with different specificity and sensitivity. Recently, the allele burden quantification of driver mutations has become a useful tool, both for prognostication and efficacy evaluation of therapies. Moreover, other sub-clonal mutations have been reported in MPN patients, which are associated with poorer prognosis. ASXL1 mutation appears to be the worst amongst them. Both driver and sub-clonal mutations are now taken into consideration in new prognostic scoring systems and may be better investigated using next generation sequence (NGS) technology. In this review we summarize the value of NGS and its contribution in providing a comprehensive picture of mutational landscape to guide treatment decisions. Finally, discussing the role that NGS has in defining the potential risk of disease development, we forecast NGS as the standard molecular biology technique for evaluating these patients.
AB - The hallmark of BCR-ABL1-negative myeloproliferative neoplasms (MPNs) is the presence of a driver mutation in JAK2, CALR, or MPL gene. These genetic alterations represent a key feature, useful for diagnostic, prognostic and therapeutical approaches. Molecular biology tests are now widely available with different specificity and sensitivity. Recently, the allele burden quantification of driver mutations has become a useful tool, both for prognostication and efficacy evaluation of therapies. Moreover, other sub-clonal mutations have been reported in MPN patients, which are associated with poorer prognosis. ASXL1 mutation appears to be the worst amongst them. Both driver and sub-clonal mutations are now taken into consideration in new prognostic scoring systems and may be better investigated using next generation sequence (NGS) technology. In this review we summarize the value of NGS and its contribution in providing a comprehensive picture of mutational landscape to guide treatment decisions. Finally, discussing the role that NGS has in defining the potential risk of disease development, we forecast NGS as the standard molecular biology technique for evaluating these patients.
KW - ASXL1 mutation
KW - BCR-ABL1-negative myeloproliferative neoplasms (MPNs)
KW - Calreticulin (CALR)
KW - High molecular risk (HMR) mutations
KW - JAK2 mutations
KW - MPL (W515K/L)
KW - Myelofibrosis (MF)
KW - Next generation sequencing (NGS)
UR - http://www.scopus.com/inward/record.url?scp=85067435355&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85067435355&partnerID=8YFLogxK
U2 - 10.3389/fonc.2019.00321
DO - 10.3389/fonc.2019.00321
M3 - Review article
AN - SCOPUS:85067435355
VL - 9
JO - Frontiers in Oncology
JF - Frontiers in Oncology
SN - 2234-943X
IS - APR
M1 - 321
ER -