title: Low-grade fibromatosis-like spindle cell carcinomas of the breast are molecularly exiguous.
abstract: BACKGROUND
  Low-grade fibromatosis-like spindle cell carcinomas are very rare breast carcinomas comprising <0.5% of all breast cancers. They demonstrate immunohistochemical (IHC) features of basal-like/metaplastic breast carcinomas, but the underlying molecular characteristics are unknown. We hypothesised that, as with IHC similarities, there may be common genomic alterations between spindle cell and basal-like/metaplastic carcinomas.
  
  
  RESULTS
  Genomic mutational profile and genomic copy number aberration (CNA) analyses were performed on three cases of this unusual entity, and findings were compared with that reported for basal-like/metaplastic breast carcinomas. Copy number analyses by molecular inversion probe assays of the three spindle cell carcinoma samples revealed little overall genomic CNAs with only minor changes identified (fraction of the genome altered; 1.3%-6.4%), but with a common 9p21.3 loss in 2 out of 3 samples, with CDKN2A (p16) being a likely candidate. No areas of commonality were identified in an in silico analysis compared with publically available basal-like/metaplastic carcinoma copy number data.
  
  
  CONCLUSIONS
  These tumours are characterised by low genomic instability, and share no CNAs with other metaplastic carcinomas. These findings favour this entity being a unique group genotype and belie their apparent homogeneous morphology and phenotype.
authors.affiliation: Department of Pathology, Peter MacCallum Cancer Centre, St Andrews Place, East Melbourne, Victoria, Australia.
authors.forename: Elena A
authors.initials: EA
authors.lastname: Takano
authors.affiliation: Cancer Genetics Laboratory, Peter MacCallum Cancer Centre, St Andrews Place, East Melbourne, Victoria, Australia.
authors.forename: Sally M
authors.initials: SM
authors.lastname: Hunter
authors.affiliation: Cancer Genetics Laboratory, Peter MacCallum Cancer Centre, St Andrews Place, East Melbourne, Victoria, Australia Department of Pathology, The University of Melbourne, Parkville, Victoria, Australia The Sir Peter MacCallum Department of Oncology, The University of Melbourne, Parkville, Victoria, Australia.
authors.forename: Ian G
authors.initials: IG
authors.lastname: Campbell
authors.affiliation: Department of Pathology, Peter MacCallum Cancer Centre, St Andrews Place, East Melbourne, Victoria, Australia Department of Pathology, The University of Melbourne, Parkville, Victoria, Australia.
authors.forename: Stephen B
authors.initials: SB
authors.lastname: Fox
mesh_terms: D014408:Biomarkers, Tumor / Q000032:analysis / Q000235:genetics*; D001706:Biopsy; D001943:Breast Neoplasms / Q000737:chemistry / Q000145:classification / Q000235:genetics* / Q000473:pathology; D002277:Carcinoma / Q000737:chemistry / Q000145:classification / Q000235:genetics* / Q000473:pathology; D002899:Chromosomes, Human, Pair 9; D003198:Computer Simulation; D056915:DNA Copy Number Variations; D004252:DNA Mutational Analysis; D030541:Databases, Genetic; D005260:Female; D005350:Fibroma / Q000737:chemistry / Q000145:classification / Q000235:genetics* / Q000473:pathology; D018628:Gene Dosage; D019942:Genes, p16; D020022:Genetic Predisposition to Disease; D006801:Humans; D007150:Immunohistochemistry; D008679:Metaplasia; D009154:Mutation; D060787:Neoplasm Grading; D010641:Phenotype
chemical_list: D014408:Biomarkers, Tumor
keywords: BREAST CANCER; CANCER GENETICS; HISTOPATHOLOGY