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

Completed

• Conditions: Acute Myeloid Leukemia

• Registration Number: NCT02861651
• Lead Sponsor: Institut Paoli-Calmettes

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.

Detailed Description

Not available

Study Timeline

• Study Start: 2014-03
• Primary Completion: 2015-07
• Status Verified: 2016-07
• Study First Submitted: 2016-07-08
• Study First Submitted QC: 2016-08-05
• Last Update Submitted: 2016-08-05
• Study First Posted: 2016-08-10
• Last Update Posted: 2016-08-10

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 40

Inclusion Criteria

• Age>18 year
• Diagnosis of AML6
• Written consent obtained

Exclusion Criteria

• No written consent
• No frozen samples

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Molecular characterization of AML-6 by NGS and CGH array	1 year	Molecular characterization 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.

Trial Locations

Locations (1)

Institut Paoli-Calmettes; 🇫🇷 Marseille, Bouches-du Rhône, France