PMID- 28882701
OWN - NLM
STAT- MEDLINE
DCOM- 20171204
LR  - 20211011
IS  - 1532-8392 (Electronic)
IS  - 0046-8177 (Linking)
VI  - 68
DP  - 2017 Oct
TI  - Diagnostic value of histone 3 mutations in osteoclast-rich bone tumors.
PG  - 119-127
LID - S0046-8177(17)30316-7 [pii]
LID - 10.1016/j.humpath.2017.08.030 [doi]
AB  - Differentiating osteoclast-rich lesions of bone (giant cell tumor of bone [GCTB], 
      chondroblastoma [CBA], and aneurysmal bone cyst [ABC]) can be challenging, 
      especially in small biopsies or fine-needle aspirations. Mutations affecting 
      codons 34 and 36 of either H3 Histone Family Member 3A (H3F3A) and/or 3B (H3F3B) 
      are characteristically seen in GCTB and CBAs. We devised a simple assay to 
      identify these mutations and evaluated its applicability for routine clinical 
      diagnosis. One hundred twenty-four tissue specimens from 108 patients (43 GCTBs, 
      38 CBAs and 27 ABCs) were collected from the archives of the Calgary Laboratory 
      Services/University of Calgary and Vanderbilt University Medical Center. 
      Histology was reviewed by an expert orthopedic pathologist. A single base 
      extension assay (SNaPshot) is used to interrogate each nucleotide in codons 34 
      and 36 of H3F3A and codon 36 of H3F3B. Final diagnoses were generated after 
      re-reviewing cases and incorporating molecular findings. Of 43 GCTBs, 38 (88%) 
      had an H3F3A G34W mutation; 35 of 38 CBAs (92%) had a K36M mutation in either 
      H3F3B (N = 31; 82%) or H3F3A (N = 4; 11%); none of 27 ABCs had a tested mutation. 
      Molecular findings changed the histomorphologic diagnosis in 5 cases (3 GCTB 
      changed to ABC, and 2 ABC changed to GCTB). These findings support the diagnostic 
      utility of mutational analysis for this differential diagnosis in certain 
      challenging cases when clinicoradiologic and histomorphologic features are not 
      definitive, particularly for distinguishing cellular ABC versus GCTB with 
      secondary ABC.
CI  - Copyright (c) 2017 Elsevier Inc. All rights reserved.
FAU - Nohr, Erik
AU  - Nohr E
AD  - University of Calgary/Calgary Laboratory Services, Department of Pathology and 
      Laboratory Medicine, Calgary, AB, Canada, T2N 2T9.
FAU - Lee, Lik Hang
AU  - Lee LH
AD  - University of Calgary/Calgary Laboratory Services, Department of Pathology and 
      Laboratory Medicine, Calgary, AB, Canada, T2N 2T9.
FAU - Cates, Justin M
AU  - Cates JM
AD  - Vanderbilt University Medical Center, Department of Pathology, Microbiology and 
      Immunology, Nashville, TN, United States, 37232.
FAU - Perizzolo, Marco
AU  - Perizzolo M
AD  - University of Calgary/Calgary Laboratory Services, Department of Pathology and 
      Laboratory Medicine, Calgary, AB, Canada, T2N 2T9.
FAU - Itani, Doha
AU  - Itani D
AD  - University of Calgary/Calgary Laboratory Services, Department of Pathology and 
      Laboratory Medicine, Calgary, AB, Canada, T2N 2T9. Electronic address: 
      doha.itani@cls.ab.ca.
LA  - eng
PT  - Journal Article
PT  - Multicenter Study
DEP - 20170904
PL  - United States
TA  - Hum Pathol
JT  - Human pathology
JID - 9421547
RN  - 0 (Biomarkers, Tumor)
RN  - 0 (H3-3A protein, human)
RN  - 0 (Histones)
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Aged
MH  - Alberta
MH  - Biomarkers, Tumor/*genetics
MH  - Bone Cysts, Aneurysmal/*genetics/mortality/pathology/therapy
MH  - Bone Neoplasms/*genetics/mortality/pathology/therapy
MH  - Child
MH  - Chondroblastoma/*genetics/mortality/pathology/therapy
MH  - *DNA Mutational Analysis
MH  - Diagnosis, Differential
MH  - Disease-Free Survival
MH  - Female
MH  - Genetic Predisposition to Disease
MH  - Giant Cell Tumor of Bone/*genetics/mortality/pathology/therapy
MH  - Histones/*genetics
MH  - Humans
MH  - Kaplan-Meier Estimate
MH  - Male
MH  - Middle Aged
MH  - *Mutation
MH  - Osteoclasts/*pathology
MH  - Phenotype
MH  - Predictive Value of Tests
MH  - Tennessee
MH  - Time Factors
MH  - Young Adult
OTO - NOTNLM
OT  - Aneurysmal bone cysts
OT  - Chondroblastoma
OT  - Giant cell tumor of bone
OT  - H3F3A
OT  - H3F3B
OT  - Point mutation
EDAT- 2017/09/09 06:00
MHDA- 2017/12/05 06:00
CRDT- 2017/09/09 06:00
PHST- 2017/02/16 00:00 [received]
PHST- 2017/08/10 00:00 [revised]
PHST- 2017/08/23 00:00 [accepted]
PHST- 2017/09/09 06:00 [pubmed]
PHST- 2017/12/05 06:00 [medline]
PHST- 2017/09/09 06:00 [entrez]
AID - S0046-8177(17)30316-7 [pii]
AID - 10.1016/j.humpath.2017.08.030 [doi]
PST - ppublish
SO  - Hum Pathol. 2017 Oct;68:119-127. doi: 10.1016/j.humpath.2017.08.030. Epub 2017 
      Sep 4.