PMID- 31189153
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20201001
IS  - 1523-7834 (Print)
IS  - 1523-7834 (Linking)
VI  - 45
IP  - 2
DP  - 2019
TI  - Duplication of the Band q21q27 on the Long Arm of Chromosome 3: A Rare 
      Cytogenetic Event in B-Chronic Lymphocytic Leukemia (B-CLL).
PG  - 67-71
AB  - We present the case of an 83-year-old female with a long history of B-CLL 
      followed by observation only. Twelve years after her diagnosis of CLL, routine 
      follow-up chromosome analysis of peripheral blood revealed an abnormal metaphase 
      with a dup(3)(q21q27) in 18 of 20 metaphase cells. To further characterize the 
      abnormal chromosome 3, fluorescence in situ hybridization (FISH) was performed 
      using the Abbott BCL6 probe for 3q27. An additional BCL6 signal was observed in 
      303 of the 500 interphase nuclei examined. The ISCN was reported as 
      46,XX,dup(3)(q21q27)[1]/46,XX[2]. nuc ish(5'BCL6, 3'BCL6)x3(5'BCL6 with 
      3'BCL6x3)[303/500]. This abnormality was seen again in one of three available 
      metaphases in a follow-up peripheral blood study five years later, consistent 
      with persistent disease. Molecular genetic analysis identified the presence of 
      somatic hypermutation of the immunoglobulin heavy chain gene variable region 
      (IGH-V), which is recognized as an independent favorable prognostic marker in 
      CLL. FISH analysis was negative for loss of SEC63 (6q21), amplification of MYC 
      (8q24), loss of ATM (11q22.3), trisomy 12, loss of D13S319 (13q14.3), loss of 
      TP53 (17p13.1) and CCND1/MYEOV IGH rearrangement [t(11;14)(q13;q32.30)]. Partial 
      trisomy 3 is a relatively rare event seen in B-CLL, with commonly overrepresented 
      segments including the q21-23 region and the q25-29 region of the long arm of 
      chromosome 3, as well as changes leading to gains of 3q26- q27. The clinical 
      significance of this finding in B-CLL is uncertain; however, our patient remains 
      well and has not required therapy 17 years after her initial diagnosis.
CI  - Copyright(c) by the Association of Genetic Technologists.
FAU - Zhao, Diane
AU  - Zhao D
AD  - UCLA Los Angeles.
AD  - The International Circle of Genetic Studies, Los Angeles, CA.
FAU - Nguyen, Andrew M
AU  - Nguyen AM
AD  - UCLA Los Angeles.
AD  - The International Circle of Genetic Studies, Los Angeles, CA.
FAU - Stieglbauer, Kevin T
AU  - Stieglbauer KT
AD  - Allina Health, Inc. Minneapolis, MN.
AD  - Hospital Pathology Associates, PA, Minneapolis, MN.
FAU - Tirado, Carlos A
AU  - Tirado CA
AD  - Allina Health, Inc. Minneapolis, MN.
AD  - Hospital Pathology Associates, PA, Minneapolis, MN.
AD  - The University of Minnesota, Department of Laboratory Medicine and Pathology, 
      Minneapolis, MN.
LA  - eng
PT  - Journal Article
PL  - United States
TA  - J Assoc Genet Technol
JT  - Journal of the Association of Genetic Technologists
JID - 9807282
EDAT- 2019/06/13 06:00
MHDA- 2019/06/13 06:01
CRDT- 2019/06/13 06:00
PHST- 2018/09/10 00:00 [received]
PHST- 2019/06/02 00:00 [accepted]
PHST- 2019/06/13 06:00 [entrez]
PHST- 2019/06/13 06:00 [pubmed]
PHST- 2019/06/13 06:01 [medline]
PST - ppublish
SO  - J Assoc Genet Technol. 2019;45(2):67-71.