RESUMO
BACKGROUND: Nonimmune hydrops fetalis (NIHF) is still a challenging diagnosis. The differential diagnosis is extensive and the success of identifying a cause depends on the thoroughness of efforts to establish a diagnosis. For the early diagnosis of NIHF, a virtual gene panel diagnostic tool was developed. The female premature baby in question was delivered via emergency cesarean at 30 + 1 weeks of gestational age (GA) due to rapidly developing NIHF to a healthy mother. The family history was noncontributory. METHODS: DNA of the family was extracted and sequenced by the virtual hydrops panel with whole-exome sequencing. RESULTS: The hydrops panel revealed Noonan syndrome (NS) with a germline mutation in PTPN11 c.218C>T (p.Thr73Ile). CONCLUSION: The diagnosis of our patient was rapidly confirmed by the hydrops panel. The variant of c.218C>T (p.Thr73Ile) has not yet been described in literature relating to NIHF. Only a few case reports of this variant are known. This particular mutation is associated with Noonan syndrome, congenital heart defect and persistent thrombocytopenia. Few reveal juvenile myelomonocytic leukemia.
Assuntos
Hidropisia Fetal/diagnóstico , Síndrome de Noonan/diagnóstico , Proteína Tirosina Fosfatase não Receptora Tipo 11/genética , Trombocitopenia/diagnóstico , Feminino , Testes Genéticos/métodos , Humanos , Hidropisia Fetal/genética , Recém-Nascido , Mutação , Síndrome de Noonan/genética , Trombocitopenia/genética , Sequenciamento do Exoma/métodosRESUMO
BACKGROUND: Many patients with solid tumours suffer from anaemia, as a consequence of the disease itself or its treatment. Anaemia affects the quality of life and can have a negative impact on overall survival. The aim of the current study was to analyse the impact of haemoglobin levels on the prognosis of patients with primary breast cancer. PATIENTS AND METHODS: Retrospective data from 249 women treated for operable breast tumours were included in our study. Haemoglobin (Hb) levels independently of anticancer therapy were compared for the prognostic influence on disease-free and overall survival. RESULTS: A significant correlation between higher minimum Hb level during chemotherapy and the disease-free and overall survival was found. Pre-treatment haemoglobin levels had no prognostic influence on the disease-free and overall survival. CONCLUSION: The present data showed that anaemia during adjuvant chemotherapy to be a negative prognostic indicator for survival of patients with breast cancer.