PMID- 26701195
OWN - NLM
STAT- MEDLINE
DCOM- 20160623
LR  - 20180130
IS  - 2210-7762 (Print)
VI  - 209
IP  - 1-2
DP  - 2016 Jan-Feb
TI  - Undifferentiated myxoid lipoblastoma with PLAG1-HAS2 fusion in an infant; 
      morphologically mimicking primitive myxoid mesenchymal tumor of infancy 
      (PMMTI)--diagnostic importance of cytogenetic and molecular testing and 
      literature review.
PG  - 21-9
LID - S2210-7762(15)00232-X [pii]
LID - 10.1016/j.cancergen.2015.11.004 [doi]
AB  - Lipoblastoma is a benign myxoid neoplasm arising in young children that typically 
      demonstrates adipose differentiation. It is often morphologically 
      indistinguishable from primitive myxoid mesenchymal tumor of infancy (PMMTI), 
      which is characterized by a well-circumscribed myxoid mass with a proliferation 
      of primitive mesenchymal cells with mild cytologic atypia. PMMTI occurs in the 
      first year of life and is known to have locally aggressive behavior. No specific 
      genetic rearrangements have been reported to date. In contrast, the presence of 
      PLAG1 (Pleomorphic Adenoma Gene 1) rearrangement is diagnostic for lipoblastoma. 
      We hereby demonstrate the combined application of multiple approaches to tackle 
      the diagnostic challenges of a rapidly growing neck tumor in a 3-month-old 
      female. An incisional tumor biopsy had features of an undifferentiated, myxoid 
      mesenchymal neoplasm mimicking PMMTI. However, tumor cells showed diffuse nuclear 
      expression by immunohistochemical (IHC) stain. Conventional cytogenetic and 
      fluorescence in situ hybridization (FISH) analyses as well as next generation 
      sequencing (NGS) demonstrated evidence of PLAG1 rearrangement, confirming the 
      diagnosis of lipoblastoma. This experience warrants that undifferentiated myxoid 
      lipoblastoma can mimic PMMTI, and the combination of cytogenetic and molecular 
      approaches is essential to distinguish these two myxoid neoplasms. Literature on 
      lipoblastomas with relevant molecular and cytogenetic findings is summarized. Our 
      case is the first lipoblastoma diagnosed with a PLAG1 fusion defined by NGS 
      technology.
CI  - Copyright (c) 2016 Elsevier Inc. All rights reserved.
FAU - Warren, Mikako
AU  - Warren M
AD  - Division of Pathology, Cincinnati Children's Hospital Medical Center, Cincinnati, 
      OH 45229, USA.
FAU - Turpin, Brian K
AU  - Turpin BK
AD  - Division of Hematology-Oncology, Cincinnati Children's Hospital Medical Center, 
      Cincinnati, OH 45229, USA.
FAU - Mark, Melissa
AU  - Mark M
AD  - Division of Hematology-Oncology, Cincinnati Children's Hospital Medical Center, 
      Cincinnati, OH 45229, USA.
FAU - Smolarek, Teresa A
AU  - Smolarek TA
AD  - Division of Human Genetics, Cincinnati Children's Hospital Medical Center, 
      Cincinnati, OH 45229, USA.
FAU - Li, Xia
AU  - Li X
AD  - Division of Human Genetics, Cincinnati Children's Hospital Medical Center, 
      Cincinnati, OH 45229, USA. Electronic address: Xia.Li@cchmc.org.
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Review
DEP - 20151118
PL  - United States
TA  - Cancer Genet
JT  - Cancer genetics
JID - 101539150
RN  - 0 (DNA-Binding Proteins)
RN  - 0 (Oncogene Proteins, Fusion)
RN  - 0 (PLAG1 protein, human)
RN  - EC 2.4.1.17 (Glucuronosyltransferase)
RN  - EC 2.4.1.212 (HAS2 protein, human)
RN  - EC 2.4.1.212 (Hyaluronan Synthases)
SB  - IM
MH  - DNA-Binding Proteins/*genetics
MH  - Female
MH  - Glucuronosyltransferase/*genetics
MH  - High-Throughput Nucleotide Sequencing/methods
MH  - Humans
MH  - Hyaluronan Synthases
MH  - Immunohistochemistry
MH  - In Situ Hybridization, Fluorescence/methods
MH  - Infant
MH  - Lipoblastoma/*genetics/pathology
MH  - Oncogene Proteins, Fusion/*genetics
MH  - Soft Tissue Neoplasms/*genetics/pathology
OTO - NOTNLM
OT  - Lipoblastoma
OT  - PLAG1 rearrangement
OT  - cytogenetics
OT  - myxoid mesenchymal tumor
OT  - next generation sequencing
EDAT- 2015/12/25 06:00
MHDA- 2016/06/24 06:00
CRDT- 2015/12/25 06:00
PHST- 2015/09/22 00:00 [received]
PHST- 2015/11/10 00:00 [revised]
PHST- 2015/11/12 00:00 [accepted]
PHST- 2015/12/25 06:00 [entrez]
PHST- 2015/12/25 06:00 [pubmed]
PHST- 2016/06/24 06:00 [medline]
AID - S2210-7762(15)00232-X [pii]
AID - 10.1016/j.cancergen.2015.11.004 [doi]
PST - ppublish
SO  - Cancer Genet. 2016 Jan-Feb;209(1-2):21-9. doi: 10.1016/j.cancergen.2015.11.004. 
      Epub 2015 Nov 18.