RESUMO
Microdeletions of 8p23.1 are mediated by low copy repeats and can cause congenital diaphragmatic hernia (CDH) and cardiac defects. Within this region, point mutations of the GATA4 gene have been shown to cause cardiac defects. However, the cause of CDH in these deletions has been difficult to determine due to the paucity of mutations that result in CDH, the lack of smaller deletions to refine the region and the reduced penetrance of CDH in these large deletions. Mice deficient for one copy of the Gata4 gene have been described with CDH and heart defects suggesting mutations in Gata4 can cause the phenotype in mice. We report on the SNP microarray analysis on two fetuses with deletions of 8p23.1. The first had CDH and a ventricular septal defect (VSD) on ultrasonography and a family history of a maternal VSD. Microarray analysis detected a 127-kb deletion which included the GATA4 and NEIL2 genes which was inherited from the mother. The second fetus had an incomplete atrioventricular canal defect on ultrasonography. Microarray analysis showed a 315-kb deletion that included seven genes, GATA4, NEIL2, FDFT1, CTSB, DEFB136, DEFB135, and DEFB134. These results suggest that haploinsufficiency of the two genes in common within 8p23.1; GATA4 and NEIL2 can cause CDH and cardiac defects in humans.
Assuntos
Cardiopatias Congênitas/genética , Hérnia Diafragmática/genética , Monossomia , Cromossomos Humanos Par 8 , DNA Glicosilases/genética , DNA Liase (Sítios Apurínicos ou Apirimidínicos)/genética , Feminino , Fator de Transcrição GATA4/genética , Haploinsuficiência , Cardiopatias Congênitas/diagnóstico por imagem , Comunicação Interventricular/diagnóstico por imagem , Comunicação Interventricular/genética , Hérnia Diafragmática/diagnóstico por imagem , Hérnias Diafragmáticas Congênitas , Humanos , Recém-Nascido , Análise de Sequência com Séries de Oligonucleotídeos/métodos , Polimorfismo de Nucleotídeo Único , Gravidez , Diagnóstico Pré-Natal , Ultrassonografia Pré-NatalRESUMO
BACKGROUND: Perforation of an adenocarcinoma of the appendix in a pregnant woman is rare and may present as a pelvic mass and acute appendicitis. CASE: A 30-year-old woman, gravida 3, para 2-0-0-2, presented at 26 weeks' gestation with an acute abdomen, right-sided pelvic mass and uterine contractions. Tocolysis and prompt surgical exploration revealed a perforated appendix. The patient underwent a right hemicolectomy with primary anastomosis, her postoperative course was benign, and she delivered a viable infant at term vaginally. Pathology revealed a perforated adenocarcinoma of the appendix. The patient was free of disease at 36 months. CONCLUSION: Adenocarcinoma of the appendix in pregnancy is rare, may present as an acute abdomen with a mass and is managed with right hemicolectomy.