RESUMO
Brazil is the largest country in South America and the most genetically heterogeneous. The aim of the present study was to determine the prevalence of germline pathogenic variants (PVs) in Brazilian patients with breast cancer (BC) who underwent genetic counseling and genetic testing at a tertiary Oncology Center. We performed a retrospective analysis of the medical records of Brazilian patients with BC referred to genetic counseling and genetic testing between August 2017 and August 2019. A total of 224 unrelated patients were included in this study. Premenopausal women represented 68.7% of the cohort. The median age at BC diagnosis was 45 years. Multigene panel testing was performed in 219 patients, five patients performed single gene analysis or family variant testing. Forty-eight germline PVs distributed among 13 genes were detected in 20.5% of the patients (46/224). Eighty-five percent of the patients (91/224) fulfilled NCCN hereditary BC testing criteria. Among these patients, 23.5% harbored PVs (45/191). In the group of patients that did not meet NCCN criteria, PV detection rate was 3% (1/33). A total of 61% of the patients (28/46) harbored a PV in a high-penetrance BC gene: 19 (8.5%) BRCA1/2, 8 (3.5%) TP53, 1 (0.5%) PALB2. Moderate penetrance genes (ATM, CHEK2) represented 15.2% (7/46) of the positive results. PVs detection was statistically associated (p<0.05) with BC diagnosis before age 45, high-grade tumors, bilateral BC, history of multiple primary cancers, and family history of pancreatic cancer. According to the current hereditary cancer guidelines, 17.4% (39/224) of the patients had actionable variants. Nine percent of the patients (20/224) had actionable variants in non-BRCA genes, it represented 43.5% of the positive results and 51.2% of the actionable variants. Considering the observed prevalence of PVs in actionable genes beyond BRCA1/2 (9%, 20/224), multigene panel testing may offer an effective first-tier diagnostic approach in this population.
Assuntos
Neoplasias da Mama/diagnóstico , Marcadores Genéticos , Mutação em Linhagem Germinativa , Proteína BRCA1/genética , Proteína BRCA2/genética , Brasil , Neoplasias da Mama/genética , Quinase do Ponto de Checagem 2/genética , Proteína do Grupo de Complementação N da Anemia de Fanconi/genética , Feminino , Aconselhamento Genético , Predisposição Genética para Doença , Humanos , Pré-Menopausa , Estudos Retrospectivos , Centros de Atenção Terciária , Proteína Supressora de Tumor p53/genéticaRESUMO
Necrotizing fasciitis is an aggressive infection that affects subcutaneous and superficial fascia by necrosis, more often found in the abdominal wall, perineum and extremities. Rare cases have been described in the breast and the literature points to breastfeeding and previous breast procedures as risk factors for this condition. We present a 27-year-old patient in postpartum period who presented a right nipple fissure associated to breastfeeding, that evolved to a local aggressive infection with extensive necrosis of fascia and mammary parenchyma characterized as necrotizing fasciitis. Our aim is to highlight the importance of early diagnosis, especially to differentiate from puerperal mastitis which has a different pathophysiology and treatment, as well as the need for appropriate therapy consisting of surgical debridement and broad spectrum antibiotics in order to avoid further complications and death
Fasciíte necrotizante é uma infecção agressiva que acomete o subcutâneo e fáscias superficiais por necrose, mais frequentemente encontrada em parede abdominal, períneo e extremidades. Raros casos foram descritos na mama e a literatura aponta a amamentação e procedimentos mamários prévios como fatores de riscos para essa condição. Apresentamos uma paciente no puerpério, de 27 anos, que apresentou uma fissura no mamilo direito associada à amamentação e que evoluiu com infecção local agressiva, com necrose extensa de fáscias e parênquima mamário caracterizada como fasciíte necrotizante. O trabalho visa apresentar a importância do diagnóstico precoce, principalmente com diferenciação para as mastites puerperais que possuem fisiopatologia e tratamento distintos, assim como a necessidade do tratamento adequado com desbridamento cirúrgico e antibioticoterapia de amplo espectro para evitar maiores complicações e o óbito
RESUMO
PURPOSE: Finding an intrathoracic or axillary mass in a breast cancer patient should raise suspicion of a pulmonary or mediastinal nodal metastasis or axillary recurrence. Surprisingly, noncaseating epithelioid cell granuloma can be found in this type of lesion, as in sarcoidosis or a sarcoid-like reaction. METHODS: This series included eight breast cancer patients in whom a late sarcoid-like reaction developed: as an intrathoracic lesion in six, and as an ipsilateral axillary lesion in two. The latency period from oncological surgery to the diagnosis of sarcoidosis was 40 months and the average follow-up after the diagnosis of sarcoidosis was 63.38 months. RESULTS: None of the patients suffered relapse or oncological events during the period of this study. CONCLUSION: To avoid misdiagnosis and overtreatment, pathological examination should always be carried out. We do not recommend any specific treatment for sarcoidosis in a breast cancer patient, but routine oncological follow-up is appropriate. A larger series with statistical analysis is necessary to evaluate the prognosis.