genetic carcinomas - occurrence in direct relatives (mother, sister, daughter) or accumulation of tumors within syndromes (Li-Fraumeni syndrome - mutation of one p53 allele, Cowden syndrome - rare, associated with hamartomas);
the gene BRCA 1 and 2 is of greatest importance for the detection of genetic susceptibility;
a woman with a BRCA 1 mutation has a lifetime risk of 55-85% for cancer (15-45% for ovarian cancer);
Most commonly, it is a palpable, painless lump in the breast (in 75% it is the first manifestation of the disease);
Optimally, however, a non-palpable lesion should be found on mammography;
other symptoms (less common) - breast pain (5%), breast enlargement (1%), skin or nipple retraction (5%), discharge (2%), superficial changes on the nipple (1%);
of particular importance is the determination of hormone receptors - by immunohistochemistry in tissue sections; the influence of estrogen and progesterone on tumor growth is assumed
molecular biology - especially determination of HER-2/neu - causes increased proliferative activity (prognostic and predictive significance);
biopsy - fine needle aspiration (FNA) - more important to differentiate between cystic and solid masses;
histology is only possible with a self-cutting needle (core biopsy) under anaesthesia (local or general).
Screening:
early diagnosis is the basis for successful treatment;
mammography screening for women 45 and older (once every two years)[1].
Histopathology
Carcinoma most commonly arises from the terminal ductal lobular unit (TDLU);
It is usually preceded by a non-invasive form - carcinoma in situ.
Carcinoma in situ
Lobular carcinoma in situ' - from mammary lobule cells, proliferation of cells in lobules that dilate;
not detectable mammographically (unlike the previous one);
often arises multicentrically, even in the contralateral breast;
more common in premenopausal women.
Ductal carcinoma in situ' - proliferation of ductal epithelium without crossing the basement membrane, may form microcalcifications (detectable mammographically), may progress to invasive ductal carcinoma;
a special form is Paget's carcinoma of the nipple - when tumor cells from the ducts invade the nipple, more often in postmenopausal women.
Invasive forms of carcinoma
There are different forms, infiltrating is divided into 2 forms - lobular and ductal.
Lobular
about 10%, often in the HZK (upper outer quadrant);
often metastasizes to serous membranes, meninges, ovaries, retroperitoneally.
Ductal
the most common (75%), often tubular, accompanied by reactive fibrosis - the tumor has a form where it is hard as a stone;
metastasizes to bone, liver and lungs;
Inflammatory (erysipeloid) carcinoma
rare (1-3%), the most aggressive form;
infiltration of the entire breast, diffuse erythema, skin induction (typical orange peel appearance);
50-70% of tumors have nodal metastases at the time of diagnosis.
Treatment
The final treatment is the result of a joint decision by a multidisciplinary team.
Surgical treatment
Since 1882, radical mastectomy with exenteration of the axilla (pectoral muscles, nerves, ...) has been performed;
Nowadays, modified radical mastectomy is more commonly performed - the breast is separated from the pectoralis fascia, the nodes are removed from the superficial stages, the nodes below the m. pectoralis minor are usually not removed;
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