Cutaneous nodular fasciitis with genetic analysis: a case series.
Nodular fasciitis is a benign self-limited myofibroblastic neoplasm, which usually involves the upper extremities and trunk of young patients. These tumors have been shown to harbor a translocation involving the MYH9 and USP6 genes, leading to overexpression of the latter. We report seven cases of nodular fasciitis with cutaneous presentations. All cases involved the dermis, with six involving the superficial subcutis, and one auricular tumor extending into cartilage. All cases showed USP6 rearrangement by fluorescence in situ hybridization; in two of three cases, the characteristic MYH9-USP6 fusion was shown by RT-PCR. All patients underwent conservative resection. Nodular fasciitis is an uncommon mesenchymal neoplasm that can occasionally present in superficial locations and is sometimes mistaken for a malignant process. Molecular testing can be useful to distinguish this entity from other cutaneous spindle cell tumors.
Department of Pathology, Regional Medical Laboratory, Tulsa, OK, USA.
Erica
E
Kumar
Department of Pathology and Laboratory Medicine, Rhode Island Hospital, Brown University, Providence, USA.
Nimesh R
NR
Patel
Department of Pathology and Laboratory Medicine, Mount Sinai Hospital, New York, NY, USA.
Elizabeth G
EG
Demicco
Leiden University Medical Center, Leiden, the Netherlands.
Judith V M G
JV
Bovee
Department of Pathology and Laboratory Medicine, Mayo Clinic, Rochester, MN, USA.
Andre M
AM
Olivera
Department of Pathology, Immunology and Pediatrics, Texas Children's Hospital/Baylor College of Medicine, Houston, TX, USA.
Dolores H
DH
Lopez-Terrada
Department of Pathology, Cleveland Clinic Hospitals, Cleveland, OH, USA.
Steven D
SD
Billings
Department of Pathology and Translational Molecular Pathology, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.
Alexander J
AJ
Lazar
Department of Pathology and Translational Molecular Pathology, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.
Wei-Lien
WL
Wang
D000293:Adolescent; D000328:Adult; D000368:Aged; D005208:Fasciitis / Q000235:genetics / Q000473:pathology*; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D008875:Middle Aged; D020409:Molecular Motor Proteins / Q000235:genetics; D047708:Myofibroma / Q000235:genetics / Q000473:pathology*; D018995:Myosin Heavy Chains / Q000235:genetics; D015514:Oncogene Proteins, Fusion / Q000235:genetics; D011518:Proto-Oncogene Proteins / Q000235:genetics; D060888:Real-Time Polymerase Chain Reaction; D012878:Skin Neoplasms / Q000235:genetics / Q000473:pathology*; D043222:Ubiquitin Thiolesterase / Q000235:genetics; D055815:Young Adult
C103814:MYH9 protein, human; D020409:Molecular Motor Proteins; D015514:Oncogene Proteins, Fusion; D011518:Proto-Oncogene Proteins; C473330:USP6 protein, human; D043222:Ubiquitin Thiolesterase; D018995:Myosin Heavy Chains
MYH9; USP6; cutaneous; nodular fasciitis