The MYB-NFIB gene fusion-a novel genetic link between adenoid cystic carcinoma and dermal cylindroma

• We have recently shown that the recurrent t(6;9)(q22 approximately 23;p23 approximately 24) translocation in adenoid cystic carcinoma (ACC) of the breast and head and neck results in a fusion of the two transcription factor genes MYB and NFIB. Here we demonstrate, for the first time, that benign sporadic, dermal cylindromas also express the MYB-NFIB gene fusion. RT-PCR and immunohistochemical analyses revealed that eight of 12 analysed tumours (67%) expressed MYB-NFIB fusion transcripts and/or stained positive for MYB protein. Nucleotide sequence analyses confirmed that the composition of the chimeric transcript variants identified was identical to that in ACC, suggesting a similar molecular mechanism of activation of MYB in cylindroma as in ACC. In contrast, no evidence for the presence of the MYB-NFIB fusion was found in other types of basaloid skin and salivary gland tumours, indicating that the fusion indeed has a restricted expression pattern. Our findings broaden the spectrum of neoplasms associated with MYB oncogene activation and reveal a novel genetic link between ACC and dermal cylindroma. These results, together with our previous observations, further strengthen the evidence for common molecular pathways of importance for the development of both benign and malignant breast, salivary and adnexal tumours.

Ämnesord

MEDICIN OCH HÄLSOVETENSKAP  -- Medicinska och farmaceutiska grundvetenskaper -- Cell- och molekylärbiologi (hsv//swe)

MEDICAL AND HEALTH SCIENCES  -- Basic Medicine -- Cell and Molecular Biology (hsv//eng)

Nyckelord

Aged

Aged

80 and over

Carcinoma

Adenoid Cystic/*genetics/metabolism/pathology

Chromosomes

Human

Pair 6/genetics

Chromosomes

Human

Pair 9/genetics

Female

Humans

Male

Middle Aged

Oncogene Proteins

Fusion/*genetics

Proto-Oncogene Proteins c-myb/metabolism

Reverse Transcriptase Polymerase Chain Reaction/methods

Salivary Gland Neoplasms/metabolism

Skin Neoplasms/*genetics/metabolism/pathology

Translocation

Genetic

Publikations- och innehållstyp

ref (ämneskategori)

art (ämneskategori)