1.Progress of neuroendocrine prostate cancer induced by antiandrogens
Xiangnan NIU ; Lele ZHANG ; Anhao FENG ; Yangang ZHANG
Cancer Research and Clinic 2021;33(9):716-720
Patients with castration-resistant prostate cancer (CRPC) who received a novel androgen receptor pathway inhibitor (ARPI) often show drug resistance in response to treatment. Tumors acquire androgen receptor (AR)-independent subtypes, so that cancer cells no longer depend on AR pathway to continue to grow. More and more studies have shown that after CRPC patients received ARPI treatment, some patients not only failed to achieve the clinical benefit but also experienced the evolution of tumor progression, that is, neuroendocrine prostate cancer (NEPC). NEPC is closely related to poor prognosis. So far, rare effective and reliable drugs have been found clinically to treat NEPC. This article aims to summarize the mechanism of NEPC and the molecular targets, and provide references for the diagnosis and treatment of NEPC patients.
2.Case report of acromesomelic dysplasia Maroteaux type caused by the NPR2 gene mutation
Jie SUN ; Lihong JIANG ; Pengli BAO ; Lele NIU ; Jiaqi ZHENG ; Geli LIU ; Rongxiu ZHENG
Chinese Journal of Applied Clinical Pediatrics 2022;37(12):944-946
Clinical data of a child with acromesomelic dysplasia Maroteaux type (AMDM) treated in the Department of Pediatrics, Tianjin Medical University General Hospital at November 2018 was retrospectively analyzed.The female child aged 3 years and 3 months old with 83 cm height (-3.84 SD) had clinical manifestations of disproportionate short stature, disproportionate shortening of forearms and forelegs, and stubby fingers and toes.Gene sequencing identified compound heterozygous mutations, c.1640T>A(p.Val547Asp)/c.682G>A(p.Gly228Ser), in the NPR2 gene, which have not been reported in the Human Gene Mutation Database.Their protein function was predicted harmful.The child was diagnosed as AMDM.During the follow-up until 4 years and 8 months old, the child was 90 cm tall (-4.35 SD), with a growth velocity of 4.9 cm/year.She was treated with recombinant human growth hormone (rhGH) treatment for 9 months and regularly followed up.The child was now 98.2 cm height (-3.07 SD) and she had a growth velocity of 10.9 cm/year.This case report enriched the gene mutation spectrum of AMDM.Treatment with rhGH can effectively improve the height of the child, but the long-term effect needs further follow-up and observation.