Molecular Characterization of Acute Erythroid Leukemia (M6-AML) Using Targeted Next-generation Sequencing

Brief Title

Molecular Characterization of Acute Erythroid Leukemia (M6-AML) Using Targeted Next-generation Sequencing


Brief Summary

      Acute erythroid leukemia (AEL) is a morphologically distinct, infrequent (o5%) acute myeloid
      leukemia (AML) designed as M6 in the French- American-British (FAB) classification. The World
      Health Organization classification recognizes two subclasses, M6a, a leukemia with myeloid
      blast cells, and M6b, a very rare, purely erythroid AML. It may be difficult to distinguish
      between a myelodysplastic syndrome and AEL because of the erythroblastic proliferation, which
      is increased when dysplasia is present. No recurrent cytogenetic abnormality is specific of
      AEL and the prognosis is poor with a median survival of 17 months. A study of 14 genes in a
      series of 92 cases has shown that mutations are frequent in AEL and somewhat differ from the
      other AMLs by the lower and higher proportion of FLT3-ITD and TP53 mutations, respectively.
      Only three cases of AEL are reported in the TCGA database. To further characterize AEL,
      determine whether it constitutes a distinct class of AML and document the reasons for its
      poor prognosis, the investigators will search for molecular alterations in 40 M6a-AMLs using
      array comparative genomic hybridization (aCGH) and next-generation sequencing (NGS) of 106
      genes known or suspected to have a role in myeloid malignancies or in erythrocyte
      differentiation.
    



Study Type

Observational


Primary Outcome

Molecular characterization of AML-6 by NGS and CGH array


Condition

Acute Myeloid Leukemia

Intervention

DNA sequencing


Publications

* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.

Recruitment Information


Recruitment Status

Other

Estimated Enrollment

40

Start Date

March 2014


Primary Completion Date

July 2015

Eligibility Criteria

        Inclusion Criteria:

          -  Age>18 year

          -  Diagnosis of AML6

          -  Written consent obtained

        Exclusion Criteria:

          -  No written consent

          -  No frozen samples
      

Gender

All

Ages

18 Years - N/A

Accepts Healthy Volunteers

No

Contacts

Véronique Gelsi-Boyer, MD, , 

Location Countries

France

Location Countries

France

Administrative Informations


NCT ID

NCT02861651

Organization ID

M6-AML-14-004


Responsible Party

Sponsor

Study Sponsor

Institut Paoli-Calmettes


Study Sponsor

Véronique Gelsi-Boyer, MD, Principal Investigator, Institut Paoli-Calmettes


Verification Date

July 2016