A variety of gene polymorphisms associated with idiopathic granulomatous mastitis


Destek S. , Gul V. O. , Ahioglu S.

JOURNAL OF SURGICAL CASE REPORTS, 2016 (ESCI İndekslerine Giren Dergi) identifier identifier

  • Cilt numarası: Konu: 9
  • Basım Tarihi: 2016
  • Doi Numarası: 10.1093/jscr/rjw156
  • Dergi Adı: JOURNAL OF SURGICAL CASE REPORTS

Özet

Idiopathic granulomatous mastitis (IGM) is a rare and chronic inflammatory disorder. IGM mimics breast cancer regarding its clinical and radiological features. Etiology of IGM remains unclarified. Our patient was 37-year-old and 14 weeks pregnant. There was pain, redness and swelling in the right breast. The mass suggestive of malignancy was detected in sonography. Serum CA 125 and CA 15-3 levels were high. Genetic analysis was performed for the etiology. methylenetetrahydrofolate reductase (MTHFR) C 677 TT, beta-fibrinogen-455 G>A, plasminogen activator inhibitor (PAI)-1 5 G/5 G, angiotensin-converting enzyme (ACE) I/D mutation was found. IGM was diagnosed by cor biopsy. An association was also reported between breast cancer and mutations in MTHFR-C 677 T, PAI-1, ACE genes. Genetic polymorphisms may involve in the development of IGM as it was seen in our case. Further studies should be conducted to better clarify this plausible association.