Molecular genetics of high-risk chronic lymphocytic leukemia

被引：0

作者：

Rossi, Davide ^{[1
]}

Gaidano, Gianluca ^{[1
]}

机构：

[1] Amedeo Avogadro Univ Eastern Piedmont, Div Hematol, Dept Translat Med, I-28100 Novara, Italy

来源：

EXPERT REVIEW OF HEMATOLOGY | 2012年 / 5卷 / 06期

关键词：

17p13; deletion; BIRC3; chemorefractoriness; chronic lymphocytic leukemia; high-risk mutations; NOTCH1; SF3B1; TP53; FLUDARABINE PLUS CYCLOPHOSPHAMIDE; STEM-CELL TRANSPLANTATION; RAPID DISEASE PROGRESSION; TP53; MUTATION; NOTCH1; MUTATIONS; B-CLL; SURVIVAL; CANCER; P53; DELETION;

D O I：

10.1586/EHM.12.58

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

In an optimized management algorithm of chronic lymphocytic leukemia (CLL), the early identification of high-risk patients, ideally prior to treatment, is a prerequisite for designing strategies tailored at overcoming therapy resistance. TP53 abnormalities play a central role in our current understanding of the poor prognosis of high-risk CLL patients, but fail to explain the molecular basis of 50% of high-risk CLL. Next-generation sequencing studies have revealed several novel genetic alterations in high-risk CLL, including NOTCH1, SF3B1 and BIRC3 mutations. Alterations of these genes occur in 5-10% of CLL at diagnosis, show a prevalence that increases in the more advanced phases of the disease, and confer poor prognosis in consecutive CLL series.

引用

页码：593 / 602

页数：10

共 78 条

[1] Notch signalling in T-cell lymphoblastic leukaemia/lymphoma and other haematological malignancies [J].

Aster, Jon C. ;

Blacklow, Stephen C. ;

Pear, Warren S. .

JOURNAL OF PATHOLOGY, 2011, 223 (02) :262-273

[2] Mutations in the ATM gene lead to impaired overall and treatment-free survival that is independent of IGVH mutation status in patients with B-CLL [J].

Austen, B ;

Powell, JE ;

Alvi, A ;

Edwards, I ;

Hooper, L ;

Starczynski, J ;

Taylor, AMR ;

Fegan, C ;

Moss, P ;

Stankovic, T .

BLOOD, 2005, 106 (09) :3175-3182

[3] NOTCH1 mutations in CLL associated with trisomy 12 [J].

Balatti, Veronica ;

Bottoni, Arianna ;

Palamarchuk, Alexey ;

Alder, Hansjuerg ;

Rassenti, Laura Z. ;

Kipps, Thomas J. ;

Pekarsky, Yuri ;

Croce, Carlo M. .

BLOOD, 2012, 119 (02) :329-331

[4] Rituximab, Fludarabine, Cyclophosphamide, and Mitoxantrone: A New, Highly Active Chemoimmunotherapy Regimen for Chronic Lymphocytic Leukemia [J].

Bosch, Francesc ;

Abrisqueta, Pau ;

Villamor, Neus ;

Jose Terol, Maria ;

Gonzalez-Barca, Eva ;

Ferra, Christelle ;

Gonzalez Diaz, Marcos ;

Abella, Eugenia ;

Delgado, Julio ;

Carbonell, Felix ;

Garcia Marco, Jose Antonio ;

Escoda, Lourdes ;

Ferrer, Secundino ;

Monzo, Encarnacion ;

Gonzalez, Yolanda ;

Estany, Cristina ;

Jarque, Isidro ;

Salamero, Olga ;

Muntanola, Ana ;

Montserrat, Emili .

JOURNAL OF CLINICAL ONCOLOGY, 2009, 27 (27) :4578-4584

[5] Awakening guardian angels: drugging the p53 pathway [J].

Brown, Christopher J. ;

Lain, Sonia ;

Verma, Chandra S. ;

Fersht, Alan R. ;

Lane, David P. .

NATURE REVIEWS CANCER, 2009, 9 (12) :862-873

[6] Interaction with Vascular Endothelium Enhances Survival in Primary Chronic Lymphocytic Leukemia Cells via NF-kB Activation and De novo Gene Transcription [J].

Buggins, Andrea G. S. ;

Pepper, Chris ;

Patten, Piers E. M. ;

Hewamana, Saman ;

Gohil, Satyen ;

Moorhead, Jane ;

Folarin, Najeem'deen ;

Yallop, Deborah ;

Thomas, N. Shaun B. ;

Mufti, Ghulam J. ;

Fegan, Chris ;

Devereux, Stephen .

CANCER RESEARCH, 2010, 70 (19) :7523-7533

[7] Assessment of fludarabine plus cyclophosphamide for patients with chronic lymphocytic leukaemia (the LRF CLL4 Trial): a randomised controlled trial [J].

Catovsky, D. ;

Richards, S. ;

Matutes, E. ;

Oscier, D. ;

Dyer, M. J. S. ;

FBezares, R. ;

Pettitt, A. R. ;

Hamblin, T. ;

Milligan, D. W. ;

Child, J. A. ;

Hamilton, M. S. ;

Dearden, C. E. ;

Smith, A. G. ;

Bosanquet, A. G. ;

Davis, Z. ;

Brito-Babapulle, V. ;

Else, M. ;

Wade, R. ;

Hillmen, P. .

LANCET, 2007, 370 (9583) :230-239

[8] Novel Targeted Agents and the Need to Refine Clinical End Points in Chronic Lymphocytic Leukemia [J].

Cheson, Bruce D. ;

Byrd, John C. ;

Rai, Kanti R. ;

Kay, Neil E. ;

O'Brien, Susan M. ;

Flinn, Ian W. ;

Wiestner, Adrian ;

Kipps, Thomas J. .

JOURNAL OF CLINICAL ONCOLOGY, 2012, 30 (23) :2820-2822

[9] Non-Canonical NF-κB Activation and Abnormal B Cell Accumulation in Mice Expressing Ubiquitin Protein Ligase-Inactive c-IAP2 [J].

Conze, Dietrich B. ;

Zhao, Yongge ;

Ashwell, Jonathan D. .

PLOS BIOLOGY, 2010, 8 (10)

[10]

Das BK, 1999, MOL CELL BIOL, V19, P6796

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