Identification of hereditary breast and ovarian cancer germline variants in Granada (Spain): NGS perspective.

The aim of this study was to assess the prevalence of germline variants in cancer-predisposing genes by either targeted (BRCA1/2) or multigene NGS panel in a high-risk Hereditary Breast and Ovarian Cancer (HBOC) cohort. Samples from 824 Caucasian probands were retrospectively collected and the impact of genetic diagnosis and genetic variants epidemiology in this cohort was evaluated. Performance of risk-reducing prophylactic measures, such as prophylactic mastectomy and/or prophylactic oophorectomy, was assessed through clinical follow-up of patients with a positive genetic result. Pathogenic variants predisposing to HBOC were identified in 11.9% (98/824) individuals at BRCA2 (47/98), BRCA1 (24/98), PALB2 (8/51), ATM (7/51), CHEK2 (6/51) MSH6, (2/51), RAD51C (2/51) and TP53 (2/386). Of them, 11 novel pathogenic variants and 12 VUS were identified, characterized, and submitted to ClinVar. Regarding clinical impact, the risk of developing basal or Her2 breast cancer was increased 15.7 times or 37.5 times for BRCA1 and MSH6 pathogenic variants respectively. On the contrary, the risk of developing basal or luminal A breast cancer was reduced to 81% or 77% for BRCA2 and BRCA1 pathogenic variants, respectively. Finally, 53.2% of individuals testing positive for class IV/V variants underwent prophylactic surgery (mastectomy, oophorectomy or both) being significantly younger at the cancer diagnosis than those undertaking prophylactic measures (p = 0.008). Of them, 8 carried a pathogenic/likely pathogenic variant in other genes different from BRCA1 and BRCA2, and the remaining (46.7%) decided to continue with clinical follow-up. No differences in pathogenicity or risk of developing cancer were found for BRCA1/2 between targeted and multigene sequencing strategies; however, NGS was able to resolve a greater proportion of high-risk patients.

Sarcoma de células dendríticas foliculares: una entidad poco frecuente / Follicular dendritic cell sarcoma: an unsual entity

Los sarcomas de células dendríticas foliculares son neoplasias linfoides extremadamente raras. Afectan primordialmente a ganglios linfáticos con compromiso extranodal ocasional. El diagnóstico defini-tivo requiere inmunohistoquímica. Su comportamiento clínico, el tratamiento, así como su evolución resultan poco conocidos. Presentamos el caso de un paciente al que se le diagnosticó un sarcoma dendrítico folicular con afectación axilar.

Folicular dendritic cell sarcoma is an extremelly rare lymphoid neoplasm. Lymph nodes are predominantly afected, but occasionallu extranodal compromise is seen. Definitive diagnosis requires confirmaton by inmunohistochemistry. The clinical features and management are not well know. We present the case follicular dendritic cell sarcoma with axilary afectaton.

[Syncrhonous carcinosarcoma of the extrahepatic bile duct and gallbladder.] / Carcinosarcoma sincrónico de la vesícula y la via biliar extrahepática.

Carcinosarcoma is a malignant neoplasm characterized for intermingled epithelial and mesenchymal components. CASE REPORT: A preoperative suspected diagnosis will allow a radical therapy avoiding a very bad prognosis. We report on a male patient who was operated in our Service with diagnosis of synchronous carcinosarcoma of gallbladder and extrahepatic bile duct and a review of the Medical Literature. DISCUSSION: A gallblader carcinosarcoma showing extension into common bile duct is very rare, a carcinosarcoma of the bile duct is exceptional, and a synchronous carcinosarcoma ofthe bile duct and gallbladder has not been reported previously.

[Axillary hidrosadenitis due to Leishmania: Case report and literature review]. / Hidrosadenitis axilar por Leishmania: presentación de un caso y revisión de la bibliografía.

BACKGROUND: Hidradenitis is a disorder where abscesses appear after the infection of the apocrine sweat glands. It is located normally in the axillae, groin, perineal region, and the scalp. CLINICAL CASE: A 37 year old male was referred by his GP to the General Surgery Department with axillary hidradenitis which had evolved over the years. The physical examination shows signs of hidradenitis in both axillae, with a noticeable suppurative hidradenitis in the right armpit. En bloc extirpation was performed to remove the whole affected area. The pathological examination revealed a cutaneous leishmaniasis. Subsequently, fucidin was administered topically, as well as local infiltrations of one millilitre of Glucantime™. DISCUSSION: Hidradenitis normally appears in intertriginous areas and its manifestation is accompanied by recurrent subcutaneous nodules. The incidence rate in females is three times higher than in males. The isolated Hidradenitis caused by Leishmania is a rare condition presented only in endemic areas or in immunocompromised patients, such as HIV-infected patients. Clinical manifestations can be different and the diagnosis can be confirmed through haematoxylin-eosin. The main pattern displays a disorganised granuloma without necrosis. Systemic or topical treatment can be applied. Immunotherapy treatment is the most common. CONCLUSIONS: Hidradenitis caused by Leishmania in HIV-negative patients is a rare condition. Therefore it is important to perform a good histological diagnosis and to administer the right treatment.