PMID- 26759148
OWN - NLM
STAT- MEDLINE
DCOM- 20170405
LR  - 20220317
IS  - 1936-0568 (Electronic)
IS  - 1936-055X (Print)
IS  - 1936-055X (Linking)
VI  - 10
IP  - 3
DP  - 2016 Sep
TI  - Phosphaturic Mesenchymal Tumor Involving the Head and Neck: A Report of Five 
      Cases with FGFR1 Fluorescence In Situ Hybridization Analysis.
PG  - 279-85
LID - 10.1007/s12105-015-0678-1 [doi]
AB  - Phosphaturic mesenchymal tumor (PMT) is a rare neoplasm; however, it is the most 
      common cause of tumor-induced osteomalacia (TIO), a paraneoplastic syndrome 
      characterized by renal phosphate wasting and hypophosphatemia. A subset of PMTs 
      harbours an FGFR1 translocation although this alteration has not been 
      demonstrated in PMT involving a head and neck site. We present a series of five 
      PMTs involving the head and neck and demonstrate the diagnostic utility of 
      fluorescence in situ hybridization (FISH) for detecting FGFR1 translocations. 
      Patients' age and sex, tumor location, original diagnosis, the duration of 
      symptoms, the presence of TIO, biochemical results, and medical management were 
      reviewed. The median age at presentation was 45 (range, 24-58 years) and TIO was 
      present in three cases. Four tumors involved soft tissue and one involved bone. 
      Four out of the five tumors in our series were initially misdiagnosed. Three 
      tumors were ultimately categorized as malignant PMT (two patients developed 
      metastatic disease). FGFR1 translocation was present in two out of four cases and 
      remained unknown in one case. In summary, we report on five cases of PMTs arising 
      in the head and neck and confirm utility of FGFR1 FISH in the diagnosis of a 
      subset of PMT.
FAU - Wasserman, Jason K
AU  - Wasserman JK
AD  - Department of Pathology and Laboratory Medicine, The Ottawa Hospital - General 
      Campus, Ottawa, ON, Canada.
FAU - Purgina, Bibianna
AU  - Purgina B
AD  - Department of Pathology and Laboratory Medicine, The Ottawa Hospital - General 
      Campus, Ottawa, ON, Canada.
FAU - Lai, Chi K
AU  - Lai CK
AD  - Department of Pathology and Laboratory Medicine, The Ottawa Hospital - General 
      Campus, Ottawa, ON, Canada.
FAU - Gravel, Denis
AU  - Gravel D
AD  - Department of Pathology and Laboratory Medicine, The Ottawa Hospital - General 
      Campus, Ottawa, ON, Canada.
FAU - Mahaffey, Alyssa
AU  - Mahaffey A
AD  - Department of Pathology, Presbyterian University Hospital, University of 
      Pittsburgh Medical Center, PUH A610.3, 200 Lothrop Street, Pittsburgh, PA, 15213, 
      USA.
FAU - Bell, Diana
AU  - Bell D
AD  - Department of Head and Neck Surgery, The University of Texas MD Anderson Cancer 
      Center, Houston, TX, USA.
FAU - Chiosea, Simion I
AU  - Chiosea SI
AD  - Department of Pathology, Presbyterian University Hospital, University of 
      Pittsburgh Medical Center, PUH A610.3, 200 Lothrop Street, Pittsburgh, PA, 15213, 
      USA. chioseasi@upmc.edu.
LA  - eng
PT  - Journal Article
DEP - 20160112
PL  - United States
TA  - Head Neck Pathol
JT  - Head and neck pathology
JID - 101304010
RN  - EC 2.7.10.1 (FGFR1 protein, human)
RN  - EC 2.7.10.1 (Receptor, Fibroblast Growth Factor, Type 1)
RN  - Oncogenic osteomalacia
SB  - IM
MH  - Adult
MH  - Female
MH  - Head and Neck Neoplasms/complications/genetics/*pathology
MH  - Humans
MH  - Hypophosphatemia/etiology
MH  - In Situ Hybridization, Fluorescence
MH  - Male
MH  - Mesenchymoma/complications/genetics/*pathology
MH  - Middle Aged
MH  - Neoplasms, Connective Tissue/etiology/*pathology
MH  - Osteomalacia
MH  - Paraneoplastic Syndromes/etiology
MH  - Receptor, Fibroblast Growth Factor, Type 1/*genetics
MH  - Translocation, Genetic
MH  - Young Adult
PMC - PMC4972751
OTO - NOTNLM
OT  - FGFR1
OT  - Fluorescence in situ hybridization
OT  - Phosphaturic mesenchymal tumour
OT  - Translocation
OT  - Tumor-induced osteomalacia
EDAT- 2016/01/14 06:00
MHDA- 2017/04/06 06:00
PMCR- 2017/01/12
CRDT- 2016/01/14 06:00
PHST- 2015/10/30 00:00 [received]
PHST- 2015/12/31 00:00 [accepted]
PHST- 2016/01/14 06:00 [entrez]
PHST- 2016/01/14 06:00 [pubmed]
PHST- 2017/04/06 06:00 [medline]
PHST- 2017/01/12 00:00 [pmc-release]
AID - 10.1007/s12105-015-0678-1 [pii]
AID - 678 [pii]
AID - 10.1007/s12105-015-0678-1 [doi]
PST - ppublish
SO  - Head Neck Pathol. 2016 Sep;10(3):279-85. doi: 10.1007/s12105-015-0678-1. Epub 
      2016 Jan 12.