JAK2 V617F-positive acute myeloid leukaemia (AML): a comparison between de novo AML and secondary AML transformed from an underlying myeloproliferative neoplasm. A study from the Bone Marrow Pathology Group

British Journal of Haematology
Jason AynardiAdam Bagg

Abstract

The JAK2 V617F mutation is characteristic of most Philadelphia chromosome-negative myeloproliferative neoplasms (MPNs) and occurs rarely in de novo acute myeloid leukaemia (AML). We sought to characterize AMLs that harbour this mutation and distinguish those that arise de novo (AML-DN) from those that reflect transformation of an underlying MPN (AML-MPN). Forty-five patients with JAK2 V617F-mutated AML were identified; 15 were AML-DN and 30 were AML-MPN. AML-MPN cases were more likely to have splenomegaly (P = 0·02), MPN-like megakaryocytes and higher mean JAK2 V617F VAF at diagnosis (P = 0·04). Mutations involving TET2 were exclusively identified in AML-DN patients. Mutations of genes affecting DNA methylation were more common in AML-DN (P < 0·01). A complex karyotype was more frequent in AML-MPN cases than in AML-DN (P < 0·01), with AML-DN more likely to display a normal karyotype (P = 0·02). Bone marrow histology after recovery from induction chemotherapy in AML-DN cases revealed no morphological evidence of any previously occult MPNs, while this was evident in most of the AML-MPN specimens (P < 0·01). These findings in this largest study of JAK2 V617F-mutated AMLs indicate that AML-DN is distinct from AML-MPN.

References

Jan 19, 2007·Haematologica·Thomas IllmerUNKNOWN DSIL2003 AML study group
May 20, 2009·Bioinformatics·Heng Li, Richard Durbin
May 29, 2009·The New England Journal of Medicine·François DelhommeauOlivier A Bernard
May 4, 2011·Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology·Magnus BjörkholmOla Landgren
Feb 12, 2013·Nature Biotechnology·Kristian CibulskisGad Getz
Jul 6, 2014·Blood·Elisa RumiUNKNOWN Associazione Italiana per la Ricerca sul Cancro Gruppo Italiano Malattie Mieloproliferative Investigators
Jun 9, 2016·The New England Journal of Medicine·Elli PapaemmanuilPeter J Campbell
Jun 10, 2017·Journal of the National Comprehensive Cancer Network : JNCCN·Juliana E Hidalgo-LópezCarlos E Bueso-Ramos
Jul 5, 2017·Hematology/oncology Clinics of North America·Gabriela S HobbsAnn Mullally

❮ Previous
Next ❯

Citations

Feb 19, 2019·Expert Opinion on Investigational Drugs·Joseph Cioccio, David Claxton
Aug 2, 2019·American Journal of Clinical Pathology·Marian H HarrisMagdalena Czader
Feb 19, 2020·Genome Medicine·Jacob J AdashekRazelle Kurzrock
Jul 28, 2019·Leukemia·Milena PanticAnnette Schmitt-Graeff
Jan 23, 2019·Annals of Hematology·Edna CheungBernard L Marini
Apr 17, 2019·Indian Journal of Hematology & Blood Transfusion : an Official Journal of Indian Society of Hematology and Blood Transfusion·Kanjaksha Ghosh, Kinjalka Ghosh
Feb 25, 2020·Hematology/oncology Clinics of North America·Eric S Winer
Jun 23, 2021·American Journal of Clinical Pathology·Mehenaz HanbazazhDiana Morlote

❮ Previous
Next ❯

Related Concepts

Related Feeds

AML: Role of LSD1 by CRISPR (Keystone)

Find the latest rersearrch on the ability of CRISPR-Cas9 mutagenesis to profile the interactions between lysine-specific histone demethylase 1 (LSD1) and chemical inhibitors in the context of acute myeloid leukemia (AML) here.

Acute Myeloid Leukemia

Acute myeloid leukemia (AML) is a clinically and genetically heterogeneous disease with approximately 20,000 cases per year in the United States. AML also accounts for 15-20% of all childhood acute leukemias, while it is responsible for more than half of the leukemic deaths in these patients. Here is the latest research on this disease.

Blood And Marrow Transplantation

The use of hematopoietic stem cell transplantation or blood and marrow transplantation (bmt) is on the increase worldwide. BMT is used to replace damaged or destroyed bone marrow with healthy bone marrow stem cells. Here is the latest research on bone and marrow transplantation.

Cardiovascular Disease & TET2

Cardiovascular diseases are the number one cause of deaths globally. Tet methylcytosine dioxygenase 2 (TET2)-mediated hematopoiesis has been implicated in accelerating heart failure. Here is the latest research on cardiovascular diseases and TET2.

Related Papers

Expert Opinion on Investigational Drugs
Brian L HarryAntonio Jimeno
Pediatric Hematology and Oncology
Stephen E LangabeerCorrina McMahon
European Journal of Internal Medicine
Stephen E Langabeer
© 2022 Meta ULC. All rights reserved