PMID- 28459701
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20201001
IS  - 1523-7834 (Print)
IS  - 1523-7834 (Linking)
VI  - 43
IP  - 1
DP  - 2017
TI  - MECOM (EVI1) Rearrangements: A Review and Case Report of Two MDS Patients with 
      Complex 3q Inversion/Deletions.
PG  - 9-14
AB  - Acute myelogeneous leukemia (AML) with inv(3)/t(3;3)(q13q25) is associated with 
      aberrant expression of the stem-cell regulator MECOM (aka EVI1). Two bone marrow 
      samples received in the OHSU Knight Diagnostic Laboratories (KDL) Cytogenetics 
      Laboratory for chromosomes and FISH for a question of progression of 
      myelodysplastic syndrome (MDS) to AML showed complex abnormalities including a 
      deletion of chromosome 3q, one with del(3)(q13q25) and the other with 
      del(3)(q22q25). In light of the prognostic importance of the activation of the 
      MECOM oncogene and the concurrent inactivation of the GATA2 tumor suppressor that 
      occurs with the classic inversion of chromosome 3q, fluorescence in situ 
      hybridization (FISH) was performed using two different probe designs to better 
      define the 3q deletions in the two cases. Using the Abbott Molecular Laboratories 
      dual fusion MECOM/RPN1 probe, interphase and metaphase cells in both patients 
      showed a variant single fusion (orange/green/fusion) signal pattern consistent 
      with fusion and deletion. Using the three-color (red/green/aqua) Cytocell EVI1 
      probe, interphase cells in both cases showed a split red/green signal with the 
      aqua signal remaining with the green signal. The distance between the split 
      signals was generally less than is usually seen in the commonly described 
      inverted chromosome 3. These findings are therefore consistent with a complex 
      inversion and concurrent deletion/deletions of chromosome 3q. Thus, the deletion 
      3q seen in G-banded chromosomes from bone marrow from these two patients is most 
      consistent with the activation of MECOM and the inactivation of GATA2.
FAU - Lawce, Helen
AU  - Lawce H
AD  - Knight Diagnostics Laboratories, Oregon Health and Science University, Portland, 
      Oregon.
FAU - Szabo, Elina
AU  - Szabo E
AD  - Knight Diagnostics Laboratories, Oregon Health and Science University, Portland, 
      Oregon.
FAU - Torimaru, Yumi
AU  - Torimaru Y
AD  - Knight Diagnostics Laboratories, Oregon Health and Science University, Portland, 
      Oregon.
FAU - Davis, Craig
AU  - Davis C
AD  - Knight Diagnostics Laboratories, Oregon Health and Science University, Portland, 
      Oregon.
FAU - Osterberg, Karin
AU  - Osterberg K
AD  - Knight Diagnostics Laboratories, Oregon Health and Science University, Portland, 
      Oregon.
FAU - Olson, Susan
AU  - Olson S
AD  - Knight Diagnostics Laboratories, Oregon Health and Science University, Portland, 
      Oregon.
FAU - Moore, Steve
AU  - Moore S
AD  - Knight Diagnostics Laboratories, Oregon Health and Science University, Portland, 
      Oregon.
LA  - eng
PT  - Journal Article
PL  - United States
TA  - J Assoc Genet Technol
JT  - Journal of the Association of Genetic Technologists
JID - 9807282
EDAT- 2017/05/02 06:00
MHDA- 2017/05/02 06:01
CRDT- 2017/05/02 06:00
PHST- 2017/05/02 06:00 [entrez]
PHST- 2017/05/02 06:00 [pubmed]
PHST- 2017/05/02 06:01 [medline]
PST - ppublish
SO  - J Assoc Genet Technol. 2017;43(1):9-14.