RT Journal Article
SR Electronic
T1 Malignant myoepithelioma arising in adenomyoepithelioma of the breast and coincident multiple gastrointestinal stromal tumours in a patient with neurofibromatosis type 1
JF Journal of Clinical Pathology
JO J Clin Pathol
FD BMJ Publishing Group Ltd and Association of Clinical Pathologists
SP 653
OP 655
DO 10.1136/jcp.2008.063628
VO 62
IS 7
A1 L Hegyi
A1 K Thway
A1 R Newton
A1 P Osin
A1 A Nerurkar
A1 A J Hayes
A1 C Fisher
YR 2009
UL http://jcp.bmj.com/content/62/7/653.abstract
AB A 41-year-old female patient with neurofibromatosis type 1 (NF-1) presented with a breast lump and anaemia related to gastrointestinal bleeding. She was found to have malignant myoepithelioma of the breast and simultaneously multiple gastrointestinal stromal tumours (GISTs) of the small bowel. Molecular studies showed a silent germline mutation in exon 9 of the KIT gene of both tumours. The common gene mutations characteristic of sporadic GISTs were not identified in these tumours, consistent with the literature, suggesting that gene mutations in GISTs are either absent or late events in patients with NF-1.