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

NCT02861651 | Completed

• 1 other identifier: M6-AML-14-004
• Study Type: observational
• Target: 40
• Locations: 1 country
• Sites: 1

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.

Conditions

Acute Myeloid Leukemia

Outcome Measures

Primary Outcomes (1)

• Molecular characterization of AML-6 by NGS and CGH array

  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.

  1 year

Interventions

DNA sequencing OTHER

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Patients with AML-6 treated at Institut Paoli-Calmettes

You may qualify if:

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

You may not qualify if:

• No written consent
• No frozen samples

Sponsors & Collaborators

• Institut Paoli-Calmettes: lead

Study Sites (1)

Institut Paoli-Calmettes

Marseille, Bouches-du Rhône, 13009, France

Location

MeSH Terms

Conditions

Leukemia, Myeloid, Acute

Interventions

Sequence Analysis, DNA

Condition Hierarchy (Ancestors)

Leukemia, Myeloid; Leukemia; Neoplasms by Histologic Type; Neoplasms; Hematologic Diseases; Hemic and Lymphatic Diseases

Intervention Hierarchy (Ancestors)

Sequence Analysis; Genetic Techniques; Investigative Techniques

Study Officials

• Véronique Gelsi-Boyer, MD

  Institut Paoli-Calmettes

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: RETROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: July 8, 2016
• First Posted: August 10, 2016
• Study Start: March 1, 2014
• Primary Completion: July 1, 2015
• Last Updated: August 10, 2016

Record last verified: 2016-07

Locations

FR (1)