Prevalence of the CTNNB1 mutation genotype in surgically resected fibromatosis of the breast.
OBJECTIVE
To investigate CTNNB1 mutation and β-catenin expression in resected breast fibromatosis and to identify potential molecular markers of fibromatosis of the breast.


RESULTS
We selected 12 patients with fibromatosis of the breast who underwent surgical resection and were confirmed by histological examination. Ultrasonography findings for 10 patients were reviewed and only two cases were suspicious for fibromatosis on imaging. On core needle biopsy for pre-operative diagnoses, only three cases were histologically suspicious for fibromatosis. Mutations in exon 3 of CTNNB1 were detected by direct DNA sequencing in nine (75.0%) cases: all were c.121G>A (p.T41A), which was much more frequent in breast fibromatoses than in other soft tissue lesions. Nuclear β-catenin expression was observed in all cases and the level of expression was higher in cases with mutation. In eight of nine cases, the matched biopsy specimen showed the same CTNNB1 mutation status as the pre-operative specimen.


CONCLUSIONS
In the majority of cases, clinical presentation and breast imaging are highly suspicious for carcinoma. Definitive pre-operative pathological diagnosis by core needle biopsy is difficult. CTNNB1 mutation and nuclear β-catenin expression are frequently detected in sporadic breast fibromatoses, suggesting their potential as a useful tool to distinguish breast fibromatoses from other neoplasms.
Department of Pathology, Gachon University Gil Hospital, Incheon, Korea.
Taeeun
T
Kim
Eun Ah
EA
Jung
Ji Young
JY
Song
Ji Hyeon
JH
Roh
Jong Sun
JS
Choi
Jee Eun
JE
Kwon
So Young
SY
Kang
Eun Yoon
EY
Cho
Jung Hee
JH
Shin
Suk-Jin
SJ
Nam
Jung Hyun
JH
Yang
Yoon-La
YL
Choi
D000293:Adolescent; D000328:Adult; D000368:Aged; D014408:Biomarkers, Tumor / Q000378:metabolism; D001940:Breast / Q000378:metabolism / Q000473:pathology; D001943:Breast Neoplasms / Q000175:diagnosis / Q000453:epidemiology* / Q000235:genetics*; D003937:Diagnosis, Differential; D005091:Exons / Q000235:genetics; D005260:Female; D018226:Fibroadenoma / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics; D005350:Fibroma / Q000175:diagnosis / Q000453:epidemiology* / Q000235:genetics*; D005838:Genotype; D006801:Humans; D008327:Mammography; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D003557:Phyllodes Tumor / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics; D015995:Prevalence; D012189:Retrospective Studies; D055815:Young Adult; D051176:beta Catenin / Q000235:genetics* / Q000378:metabolism
D014408:Biomarkers, Tumor; C495270:CTNNB1 protein, human; D051176:beta Catenin