Das Mammakarzinom des Mannes - Historie, Epidemiologie, Ätiologie, Genetik und Histopathologie

Zusammenfassung

Brustkrebs beim Mann ist eine seltene Erkrankung. Das Verhältnis von Männern zu Frauen mit Brustkrebs beträgt 1 : 100. Ätiologisch wird eine Erhöhung der Östrogen-Testosteron-Ratio und eine Exposition zu verschiedenen Noxen diskutiert. Heute sind Keimbahnmutationen in den Mismatch-Repair-Genen, im PTEN, im Androgenrezeptor-Gen, vor allem aber im BRCA2 bekannt, die zu einem geringen Prozentsatz mit dem Mammakarzinom des Mannes assoziiert sind. Weitere genetische Faktoren sind der CYP17-Polymorphismus, das PTEN-Gen (COWDEN-Syndrom), die CHEK2 1100delC-Mutation, die Mismatch-Repair-Gene hMSH2, hMLH1, hPMS1 und hPMS2 sowie das HFE-Gen. Die Majorität der Karzinome findet sich retromammillär. 5 bis 10 % sind intraduktale Karzinome, in der Regel gut differenzierte. 85-90 % der invasiven Karzinome weisen eine duktale Differenzierung auf, 2,5 % sind papilläre Karzinome. Rund Ÿ aller Karzinome sind Hormonrezeptor-positiv, mit einer Zunahme der Positivität mit steigendem Alter. Eine Her-2 / neu-Überexpression wird in gleicher Häufigfkeit wie beim weiblichen Mammakarzinom gesehen. Morphologisch ungünstige Prognosefaktoren sind eine Tumorgröße von mehr als 2 cm, G3-Karzinome, eine Rezeptornegativität, der Nachweis einer axillären Lymphknotenmetastasierung und mehr als 4 positive Lymphknoten.

Abstract

Breast carcinoma is a rare disease in men. The incidence is 1 per cent of the incidence in women. Relative hyperestrogenemia and environmental factors seem to be important for the development of the disease. In recent years, germline mutations have been observed in male breast carcinoma patients in several genes, BRCA2, the androgene receptor gene and PTEN. Suspected genetic factors include the cell-cycle checkpoint kinase (CHEK)2 protein truncating mutation 1100delC that has been shown to confer a 10-fold increase of breast cancer risk in men. The c.1-34T > C 5′ promoter region polymorphism in cytochrome P450c17 (CYP17), a key enzyme in the biosynthesis of estrogen, has been associated with male breast cancer risk, hemochromatosis gene (HFE) mutations, the mismatch repair genes (hMSH2, hMLH1,hPMS1,hPMS2) and PTEN mutations (Cowden syndrome) are associated with male breast cancer. The majority of tumors is seen retromamillarly. Ductal carcinoma in situ comprises 5-10 % of all cancers. In case of invasive growth, 85-90 % are invasive ductal carcinomas (NOS), 2.5 % are papillary tumors; lobular cancers are exceptionally rare. About Ÿ of all cancers express estrogen and progesterone receptor with increasing positivity with increasing patient age. HER-2 / neu overexpression is seen in the same frequency as in female breast cancer. Poor prognostic factors are tumor size > 2 cm, poorly differentiated tumors, receptor negativity, axillary lymph node involvement and more than four affected nodes.

Mammakarzinom - Mann - Genetik - Pathologie

male breast cancer - genetic - pathology

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