Table 3

Summary of genomic features reported in adenoid cystic carcinomas of breast and salivary glands

AdCC salivary glandAdCC breast
TP53 mutation40–100% (higher prevalence in solid variants)45 *NA
p53 nuclear expressionReported between 17%46–48 and 87%4850% (049–100%50 †)
Other mutationsContradictory information about KIT mutations. Most studies failed to identify mutations, while one study using FFPE tissues reported multiple mutations51PTEN and PIK3CA (case report)52
Aneuploidy16% (cribriform variant) to 67% (solid variant)53<10%54
Recurrent translocation and cloned fusion transcriptt(6;9)(q22–23;p23–24)9 55 56 MYB-NFIB9t(6;9)(q22–23;p23–24) MYB-NFIB9
Translocations in single cases

  • t(6;12)(p21;q13)‡ 57

  • t(6;14)(q22;q11)58

  • t(6;9)(q23–q25;p22–p24)55 59

  • t(6;15)(q25;q15)60

  • t(1;9)(q21;p21–22)55

  • der(9)i(9)(q10)inv(9)(q12q13)55

  • der(X)t(X;9)(p21;p22–23)55

NA
Gains7p15.2, 17q21–2561; 8p, 9q, 14q, 15q, 16q, 20p, 20q§6p, 8q, 14q, 16q, 20p, 20q§
AmplificationsERBB1, CCND1 and PIK3CA and their co-amplification (by PCR method)62; CCND1, MDM2, CTTN (by FISH)61 63Not reported
Losses/deletions1p32–p3664; 6q, 9p, 12q65; 1p35, 6q22–25, 8q12–13, 9p21, 12q12–13 and 17p11–13612q, 6q, 15p, 16q, 19q**
TranscriptomeUp-regulation of genes related to morphogenesis, neurogenesis, proliferation, apoptosis, extracellular matrix proteins and basement membrane,66 transcription factors (SOX-4)66 67Basal-like subtype49
Oncogenes overexpressed¶c-KIT (CD117),68–70 CCND1, Cortactin,63 MDM261 and pAKT61 71c-KIT (CD117)49 51 72–74

  • ↵* Performed with nucleic acids extracted from FFPE tissues.

  • ↵† p53 immunohistochemical analysis using pressure cooking antigen retrieval.

  • ↵‡ Translocation described in one case of AdCC and one case of polymorphous low-grade adenocarcinomas.

  • ↵§ Fulford, Reis-Filho and Lakhani (unpublished observations).

  • ↵ As defined by immunohistochemistry.

  • AdCC, adenoid cystic carcinoma; IHC, immunohistochemistry; NA, not applicable.