RESUMEN
BACKGROUND/AIM: Several cases of concurrent reduction of expression of polycystin 1 (PKD1) and Tuberous Sclerosis Complex 2 (TSC2) that are contiguous in chromosome 16p13 have been previously reported. This study newly addresses the concurrent reduction of expression of PKD1, TSC2 and NTHL1, which is adjacent to TSC2 and is a tumor suppressor gene. MATERIALS AND METHODS: We investigated the mRNA expression levels of PKD1, TSC2, PKD2, TSC1 and NTHL1 in blood and renal cell carcinoma (RCC) tissues in a proband with autosomal dominant polycystic kidney disease (ADPKD), tuberous sclerosis complex (TSC) and multiple pathologically diverse RCCs, including clear cell, papillary and chromophobe types. Additionally, we investigated germline variants in blood using whole exome sequencing (WES) in the proband and her four siblings. RESULTS: mRNA expression levels of PKD1, TSC2 and NTHL1 were reduced in the proband's blood and RCCs, compared with control groups. WES identified one novel variant with amino acid changes in the PKD1 exon in the three subjects with ADPKD, including the proband. Moreover, two variants in the TSC2 intron specific to the proband were also identified. CONCLUSION: In this study, we report a novel pathogenic variant in the PKD1 exon which likely led to ADPKD, and two variants in the TSC2 intron, which might have led to reduction in the expression of both TSC2 and NTHL1, consequently leading to TSC and multiple pathologically diverse RCCs.
Asunto(s)
Carcinoma de Células Renales , Desoxirribonucleasa (Dímero de Pirimidina) , Neoplasias Renales , Riñón Poliquístico Autosómico Dominante , Canales Catiónicos TRPP , Proteína 2 del Complejo de la Esclerosis Tuberosa , Femenino , Humanos , Carcinoma de Células Renales/genética , Desoxirribonucleasa (Dímero de Pirimidina)/genética , Neoplasias Renales/genética , Riñón Poliquístico Autosómico Dominante/genética , ARN Mensajero/genética , Proteína 2 del Complejo de la Esclerosis Tuberosa/genética , Proteínas Supresoras de Tumor/genética , Canales Catiónicos TRPP/genéticaRESUMEN
Placenta accreta spectrum (PAS) is a rare complication that can lead to life-threatening postpartum hemorrhage. PAS can sometimes occur unexpectedly, without placenta previa;such cases can lead to higher maternal mortality and morbidity than expected cases. Here, the authors report a case of unexpected PAS caused by assisted reproductive technology (ART) in a woman with adenomyosis. The patient was a 37-year-old Japanese primipara woman who presented to our hospital at 11 weeks gestation, later returning to her parents' house to give birth. The woman had adenomyosis and underwent adenomyomectomy, which was followed by an ART pregnancy. The patient was admitted to our hospital because of a life-threatening preterm birth, with a short cervix and no evidence of placenta previa. Despite strict perinatal management, preterm rupture of the membrane (PROM) occurred. During laparotomy, the small intestine, rectum, and both right and left ovaries were clumped together and severely adhered to the surface of the uterus. After delivery, manual partial removal of the placenta was performed, resulting in heavy bleeding from the implantation site, which was diagnosed as an unexpected PAS. Following several uterine compression efforts, we successfully preserved the uterus.