Impacto do tratamento do câncer sobre o estado nutricional de pacientes oncológicos: atualização da literatura / The impact of cancer treatment on the nutritional status of oncological patients: a literature update

Objetivo: O intuito deste estudo foi revisar as possíveis alterações nutricionais decorrentes do tratamento oncológicoem indivíduos adultos. Materiais e métodos: Realizou-se umarevisão bibliográfica narrativa nas bases de dados do Lilacse Scielo, bem como em livros científicos e sites de órgãospúblicos da área da saúde, utilizando como palavras chavesos termos “câncer de mama”, “tratamento do câncer demama”, “estado nutricional”, “hormonioterapia”, entre outras.Foram encontrados 28 trabalhos relevantes sobre o assuntoentre revisões, consensos, artigos originais e relatos.Resultados: A partir dessa revisão, observamos quepacientes oncológicos comumente desenvolvem alteraçõesmetabólicas devido à presença de células malignas, tendo seu quadro clínico classificado como de risco nutricional. Ao corrência de desnutrição é frequente e depende da idadedo paciente, estágio tumoral, presença de metástase, tipo detratamento oncológico aplicado, entre outros. Por outro lado,algumas evidências relatam ganho de peso nesses pacientes,o qual parece estar diretamente relacionado ao tratamentoantineoplásico, o qual poderia levar ao aumento de apetite eretenção hídrica. Conclusão: As evidências apontam para a necessidade de controle do estado nutricional de pacientesoncológicos, e a antecipada intervenção dietética nessescasos.

Objective: To review the possible nutritional alterationsresulting from oncological treatment in adults individuals. Material and methods: Bibliographical searches wereperformed in Lilacs and Scielo databases, as well as inscientific books and public health websites. The keywords“breast cancer”, “treatment of breast cancer,” “nutritionalstatus”, “hormone therapy”, and others, were used. A total of 28 relevant studies were found, including reviews,consensus, original articles and case reports. Results: Inthis review, we observed that oncological patients commonlydevelop metabolic changes due to the presence of malignantcells, and their clinical condition is classified as at nutritional risk. The occurrence of malnutrition is frequent and dependson patient age, tumor stage, presence of metastasis, type of cancer treatment, among others. On the other hand, someevidence has indicated weight gain in oncological patients, which appears to be directly related to the antineoplastictreatment. This therapy could lead to increased appetite andhydric retention. Conclusion: These findings highlight the need for monitoring the nutritional status of oncologicalpatients and setting up early dietary intervention in suchcases.

FGFR1 and PROKR2 rare variants found in patients with combined pituitary hormone deficiencies.

The genetic aetiology of congenital hypopituitarism (CH) is not entirely elucidated. FGFR1 and PROKR2 loss-of-function mutations are classically involved in hypogonadotrophic hypogonadism (HH), however, due to the clinical and genetic overlap of HH and CH; these genes may also be involved in the pathogenesis of CH. Using a candidate gene approach, we screened 156 Brazilian patients with combined pituitary hormone deficiencies (CPHD) for loss-of-function mutations in FGFR1 and PROKR2. We identified three FGFR1 variants (p.Arg448Trp, p.Ser107Leu and p.Pro772Ser) in four unrelated patients (two males) and two PROKR2 variants (p.Arg85Cys and p.Arg248Glu) in two unrelated female patients. Five of the six patients harbouring the variants had a first-degree relative that was an unaffected carrier of it. Results of functional studies indicated that the new FGFR1 variant p.Arg448Trp is a loss-of-function variant, while p.Ser107Leu and p.Pro772Ser present signalling activity similar to the wild-type form. Regarding PROKR2 variants, results from previous functional studies indicated that p.Arg85Cys moderately compromises receptor signalling through both MAPK and Ca(2) (+) pathways while p.Arg248Glu decreases calcium mobilization but has normal MAPK activity. The presence of loss-of-function variants of FGFR1 and PROKR2 in our patients with CPHD is indicative of an adjuvant and/or modifier effect of these rare variants on the phenotype. The presence of the same variants in unaffected relatives implies that they cannot solely cause the phenotype. Other associated genetic and/or environmental modifiers may play a role in the aetiology of this condition.