Idiopathic Granulomatous Mastitis - a new approach in diagnostics and treatment.

Idiopathic granulomatous mastitis (IGM) is a rare inflammatory breast disease mimicking carcinoma and puerperal or non-puerperal mastitis. The primary purpose of this prospectively performed case control study was to compare clinical and imaging signs of IGM with the reference group of nonspecific, non- puerperal mastitis (NM) to identify the most typical clinical and imaging signs essential for a correct differential diagnosis. The secondary purpose was to present a new approach to non-invasive treatment. Thirty-nine women with histologically proven IGM and twenty-six patients with nonspecific mastitis underwent clinical examination, breast ultrasound (US), mammography (MG) and MRI examination. The most typical signs were selected for each group, and method and were statistically evaluated. The effectivity of colchicine, vitamin E and ribwort plantain tincture in treatment was assessed by clinical examination and imaging. Typical clinical signs of IGM included unilateral acute onset of breast edema, redness, palpable masses, missing fever, lymphadenopathy, no response to antibiotics or surgical interventions. Ultrasound revealed: "finger-like" structures (100%), ductectasias (76.9%), abscesses (76.9%), and lymphadenopathy (15.4%), while in MRI skin and tissue edema (100%), multicentric lesions (100%), abscesses (76.9%), ring enhancement (84.6%), lymphadenopathy (15.4%) and small enhancing lymph nodes (38.5%) were observed. Among the clinical signs, fistulas, hypoechoic mass, ductectasias and diffusion weighted images (DWI) restriction were significantly more frequent in patients with IGM than in those with NM. Treatment effectivity yielded 100% with a complete response between 6-19 months, depending on the disease extent. Targeted questions together with imaging can speed up selection for proper treatment with colchicine, vitamin E and local treatment. Long lasting use of antibiotics and repeated surgical interventions should be avoided.

Detection of driver mutations in FFPE samples from patients with verified malignant melanoma.

Malignant melanoma is an oncological disease characterized by etiologic heterogeneity and it has increasing incidence and mortality in the Slovak Republic. While it is treated surgically in combination with chemotherapy, targeted therapy, and immunotherapy, malignant melanomas can ulcerate and are susceptible to infections. These are highly aggressive cancers with metastasis, and recent studies have shown the presence of mutations in RAC1, PPP6C and STK19 genes in melanoma patients. Mutations in these genes are driver mutations; important in oncogenesis and providing selective advantage to tumor cells. The aim of our study is to establish a method to detect driver mutations in formalin-fixed, paraffin embedded (FFPE) tissue DNA. We applied Sanger sequencing to detect driver somatic mutations in RAC1, PPP6C, STK19 and BRAF genes in patients with malignant melanoma. Confirmation of BRAF V600E mutation was obtained by allele-specific PCR. The BRAF V600E mutation was present in 15 of 113 patients (13.2%) and the driver mutation in 7 of 113 patients (6.2 %). Our results demonstrate that Sanger sequencing analysis detects mutations in FFPE clinical samples. The identification of these somatic driver mutations in samples with verified malignant melanomas enabled development of a molecular classification of melanomas, and our study provides evidence of diversity of novel driver mutations implicated in malignant melanoma pathogenesis. These findings could have very important implications for targeted therapy.

Generalized melanosis with malignant melanoma metastasizing to skin--a pathological study with S-100 protein and HMB-45.

A patient with primary malignant melanoma localized to the right gluteal region is described. Four years later and after intercurrent influenza, disseminated metastases of malignant melanoma to the skin occurred. After a further 6 months melanodermia developed and lasted until the death of the patient (6 months later). Autopsy revealed melanosis of the visceral organs. Histology taken from internal organs using S-100 protein and HMB-45 melanoma methods confirmed metastases of malignant melanoma to the skin, oral cavity, palatal tonsils, nasal and nasopharyngeal mucosae, lungs, myocardium and brain. The authors discuss the mechanism of melanosis--a rare sign in patients with metastasizing malignant melanoma.

[Von Recklinghausen's neurofibromatosis with intracranial stenosis of the internal carotid artery and orbito-sphenoidal bone dysplasia (author's transl)]. / Neurofibromatosis v. Recklinghausen mit intrakranialer Stenose der A. carotis interna bei orbito-sphenoidaler Knochendysplasie.

A patient with fibromatosis of the skull and a so-called "parophthalmicus syndrome" is described in whom there was hypoplasia and stenosis of the homolateral internal carotid artery and aplasia of the ophthalmic artery. The vascular changes in this phakomatosis are discussed. We suggest that the vascular changes in the carotid be included in the extended parophthalmicus syndrome.