PMID- 28595733
OWN - NLM
STAT- MEDLINE
DCOM- 20170815
LR  - 20201209
IS  - 2210-7762 (Print)
VI  - 214-215
DP  - 2017 Aug
TI  - A novel cytogenetic and molecular characterization of renal metanephric adenoma: 
      Identification of partner genes involved in translocation t(9;15)(p24;q24).
PG  - 9-15
LID - S2210-7762(17)30011-X [pii]
LID - 10.1016/j.cancergen.2017.03.001 [doi]
AB  - Renal metanephric adenoma (MA) is a rare benign tumor frequently misclassified 
      when microscopic features alone are applied. The correct classification of a 
      renal tumor is critical for diagnostic, prognostic, and therapeutic purposes. 
      Despite the advancements in cancer genomics, up until recently relatively few 
      genetic alterations critical to MA development have been recognized. Recent data 
      suggest that 90% of MA have BRAF(V600E) mutations; the genetics of the remaining 
      10% are unclear. To date, only one case of a chromosomal translocation, 
      t(9;15)(p24;q24) associated with MA has been reported. However, the potential 
      role of the KANK1 gene, which lies near the breakpoint of the short arm of 
      chromosome 9p24, in the etiology of MA was not examined. We identified the same 
      cytogenetic aberration utilizing molecular cytogenetic techniques in a 
      22-year-old female patient, and further investigated the genes involved in the 
      translocation that might have contributed to tumorigenesis. A series of 
      fluorescence in situ hybridization (FISH) probes identified the rearranged genes 
      to be KANK1 on chromosome 9 (9p24.3) and NTRK3 on chromosome 15 (15q25.3). 
      Mate-Pair genome sequencing validated the balanced translocation between 9p24.3 
      and 15q25.3, involving genes KANK1 and NTRK3, respectively. BRAF(V600E) 
      mutational analysis was normal. Our findings indicate that gene fusions may be 
      one mechanism by which functionally relevant genes are altered in the development 
      of MA. Molecular and cytogenetic analyses have elucidated a novel genetic 
      aberration, which helps to provide a better understanding of this genomic change 
      and assist in diagnosis and classification of new subgroups/entities in 
      metanephric adenomas.
CI  - Copyright (c) 2017 Elsevier Inc. All rights reserved.
FAU - Catic, Aida
AU  - Catic A
AD  - Department of Cytogenetics, ACL Laboratories, Rosemont, Illinois, USA; 
      International Burch University, Department of Genetics and Bioengineering, 
      Sarajevo, Bosnia and Herzegovina.
FAU - Kurtovic-Kozaric, Amina
AU  - Kurtovic-Kozaric A
AD  - International Burch University, Department of Genetics and Bioengineering, 
      Sarajevo, Bosnia and Herzegovina; Department of Clinical Pathology, Cytology and 
      Human Genetics, Clinical Center of the University of Sarajevo, Sarajevo, Bosnia 
      and Herzegovina.
FAU - Johnson, Sarah H
AU  - Johnson SH
AD  - Center for Individualized Medicine (CIM), Mayo Clinic, Rochester, Minnesota, USA.
FAU - Vasmatzis, George
AU  - Vasmatzis G
AD  - Department of Molecular Medicine, Mayo Clinic, Rochester, Minnesota, USA.
FAU - Pins, Michael R
AU  - Pins MR
AD  - Department of Pathology, Advocate Lutheran General Hospital, Park Ridge, 
      Illinois, USA; Department of Pathology, Chicago Medical School of Rosalind 
      Franklin University of Medicine and Science, North Chicago, Illinois, USA.
FAU - Kogan, Jillene
AU  - Kogan J
AD  - Department of Cytogenetics, ACL Laboratories, Rosemont, Illinois, USA; Department 
      of Pathology, Advocate Lutheran General Hospital, Park Ridge, Illinois, USA; 
      Advocate Medical Group Genetics, Park Ridge, Illinois, USA. Electronic address: 
      jillene.kogan@advocatehealth.com.
LA  - eng
PT  - Case Reports
PT  - Journal Article
DEP - 20170316
PL  - United States
TA  - Cancer Genet
JT  - Cancer genetics
JID - 101539150
RN  - 0 (Adaptor Proteins, Signal Transducing)
RN  - 0 (Cytoskeletal Proteins)
RN  - 0 (KANK1 protein, human)
RN  - 0 (Tumor Suppressor Proteins)
RN  - EC 2.7.10.1 (DDR2 protein, human)
RN  - EC 2.7.10.1 (Discoidin Domain Receptor 2)
SB  - IM
MH  - Adaptor Proteins, Signal Transducing
MH  - Adenoma/diagnosis/*genetics/pathology
MH  - Adult
MH  - Cytoskeletal Proteins
MH  - Diagnosis, Differential
MH  - Discoidin Domain Receptor 2/genetics
MH  - Female
MH  - Humans
MH  - Immunohistochemistry
MH  - In Situ Hybridization, Fluorescence
MH  - Kidney Neoplasms/diagnosis/*genetics/pathology
MH  - *Translocation, Genetic
MH  - Tumor Suppressor Proteins/genetics
OTO - NOTNLM
OT  - Chromosomal translocations
OT  - Cytogenetics
OT  - KANK1-NTRK3
OT  - Metanephric adenoma
OT  - Renal cell carcinoma
EDAT- 2017/06/10 06:00
MHDA- 2017/08/16 06:00
CRDT- 2017/06/10 06:00
PHST- 2017/01/10 00:00 [received]
PHST- 2017/02/25 00:00 [revised]
PHST- 2017/03/02 00:00 [accepted]
PHST- 2017/06/10 06:00 [entrez]
PHST- 2017/06/10 06:00 [pubmed]
PHST- 2017/08/16 06:00 [medline]
AID - S2210-7762(17)30011-X [pii]
AID - 10.1016/j.cancergen.2017.03.001 [doi]
PST - ppublish
SO  - Cancer Genet. 2017 Aug;214-215:9-15. doi: 10.1016/j.cancergen.2017.03.001. Epub 
      2017 Mar 16.