title: Are acinic cell carcinomas of the breast and salivary glands distinct diseases?
abstract: OBJECTIVE
  Acinic cell carcinomas (AcCC) of the breast have been reported to constitute the breast counterpart of salivary gland AcCCs, based on the similarities of their histological and immunohistochemical features. Breast AcCC is a vanishingly rare form of triple-negative breast cancer (TNBC). Recent studies have demonstrated that in TNBCs, the two driver genes most frequently mutated are TP53 (82%) and PIK3CA (10%). We sought to define whether breast AcCCs would harbour TP53 and PIK3CA somatic mutations, and if so, whether these would be present in salivary gland AcCCs.
  
  
  RESULTS
  Sanger sequencing of the entire coding region of TP53 and of PIK3CA hotspot mutation sites of 10 breast and 20 salivary gland microdissected AcCCs revealed eight TP53 (80%) and one PIK3CA (10%) somatic mutations in breast AcCCs. No somatic mutations affecting these genes were found in the 20 salivary gland AcCCs analysed.
  
  
  CONCLUSIONS
  Our findings demonstrate that breast AcCCs display TP53 and PIK3CA mutations at frequencies similar to those of common types of TNBCs, whereas these genes appear not to be altered in salivary gland AcCCs, suggesting that despite their similar histological appearances, AcCCs of the breast and salivary glands probably constitute unrelated diseases.
authors: Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
authors: Salvatore
authors: S
authors: Piscuoglio
authors: Department of Pathology, University of Nottingham, Nottingham, UK.
authors: Zsolt
authors: Z
authors: Hodi
authors: Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
authors: Nora
authors: N
authors: Katabi
authors: Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY, USA.|School of Pathology, University of Milan, Milan, Italy.
authors: Elena
authors: E
authors: Guerini-Rocco
authors: Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
authors: Gabriel S
authors: GS
authors: Macedo
authors: Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
authors: Charlotte K Y
authors: CK
authors: Ng
authors: Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
authors: Marcia
authors: M
authors: Edelweiss
authors: Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY, USA.|Vall d'Hebron Institute of Oncology, Vall d'Hebron University Hospital, Barcelona, Spain.
authors: Leticia
authors: L
authors: De Mattos-Arruda
authors: Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
authors: Hannah Y
authors: HY
authors: Wen
authors: Department of Pathology, University of Nottingham, Nottingham, UK.
authors: Emad A
authors: EA
authors: Rakha
authors: Department of Pathology, University of Nottingham, Nottingham, UK.
authors: Ian O
authors: IO
authors: Ellis
authors: Department of Pathology, Robert J Tomsich Pathology and Laboratory Medicine Institute, Cleveland Clinic, Cleveland, OH, USA.
authors: Brian P
authors: BP
authors: Rubin
authors: Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
authors: Britta
authors: B
authors: Weigelt
authors: Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
authors: Jorge S
authors: JS
authors: Reis-Filho
mesh_terms: D000328:Adult; D000368:Aged; D018267:Carcinoma, Acinar Cell / Q000235:genetics* / Q000473:pathology; D058534:Class I Phosphatidylinositol 3-Kinases; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D007150:Immunohistochemistry; D008297:Male; D042282:Microdissection; D008875:Middle Aged; D009154:Mutation; D019869:Phosphatidylinositol 3-Kinases / Q000235:genetics*; D020133:Reverse Transcriptase Polymerase Chain Reaction; D012468:Salivary Gland Neoplasms / Q000235:genetics* / Q000473:pathology; D064726:Triple Negative Breast Neoplasms / Q000235:genetics* / Q000473:pathology; D016159:Tumor Suppressor Protein p53 / Q000235:genetics*; D055815:Young Adult
chemical_list: D016159:Tumor Suppressor Protein p53; D019869:Phosphatidylinositol 3-Kinases; D058534:Class I Phosphatidylinositol 3-Kinases; C484760:PIK3CA protein, human
keywords: PIK3CA; TP53; breast; salivary gland; sequencing