Coexistence of ETV6/RUNX1 and MLL aberrations in B-cell precursor acute lymphoblastic leukemia discloses a small subclass of BCP-ALL

Coexistence of ETV6-RUNX1 and MLL aberration among pediatric acute lymphoblastic leukemia: case reports and a literature review

“…In general, ETV6 - RUNX1 and MLL aberration are considered disease-initiating primary genetic lesions in B-ALL with prevailing mutual exclusivity. However, we found that the frequency of coexistence of the 2 fusion genes in our hospital was 0.98%, which was consistent with Attarbaschi et al ’s report ( 7 ) (0.8%), but was lower than reported by Amare Kadam et al ( 8 ) (1.6%). Our exploration of the reason revealed that it was not only due to different sample sizes, but also the respective screening approaches.…”

“…Using the keywords “ ETV6 - RUNX1 ”, “ MLL ”, “children” and “acute lymphoblastic leukemia”, a literature search of coexistence of ETV6 - RUNX1 and MLL aberration was performed in the database of PubMed, and 4 articles were retrieved finally [Attarbaschi et al ( 7 ), 2007; Amare Kadam et al ( 8 ), 2008; Matthew C. Hiemenz et al ( 9 ), 2011; Gagnon et al ( 10 )]. Among the 4 reports, the patient age range was from 2 to 7 years, including 9 males and 7 females and the WBC count was (2.66–68.6)×10 9 /L.…”

“…Amare Kadam et al ( 8 ) reported 7 cases (case 8 to case 14 in Table 2 ) among 428 childhood B-cell precursor ALL (BCP-ALL) patients (including 76 ETV6 / RUNX1 -positive cases) who were treated at their center from 2000 to 2006, and the frequency of coexistence of ETV6 - RUNX1 and MLL aberration was 1.6% (7/426). The 3-year event-free survival (EFS) and overall survival (OS) were both 85.7%.…”

Cytogenetic Profile in 7209 Indian Patients with <i>de novo</i> Acute Leukemia: A Single Centre Study from India

“…Fluorescence in situ hybridization (FISH) and conventional cytogenetics are the main strategies for cytogenetic workup of acute leukemia in disease management [13] [25]- [27]. Independent FISH analysis is used in several laboratories due to high sensitivity for detection of various cryptic structural and submicroscopic abnormalities, and also copy number changes in AL within short turnaround time [25]- [30].…”