Supplementary Material for: Adrenocortical carcinoma with a renal vein thrombus extending to the inferior vena cava successfully resected with the left kidney and distal pancreatectomy: A case report

Introduction: Adrenocortical carcinoma (ACC) is an extremely rare and aggressive tumor, and its clinical characteristics are poorly defined because of its rarity. Case presentation: We report a 64-year-old man who presented with upper abdominal pain and weight loss. Computed tomography revealed a 15 cm left adrenal tumor compressing the pancreas ventrally and a tumor thrombus in the inferior vena cava (IVC) originating from the left renal vein. Positron emission tomography–computed tomography revealed 18F-fluorodeoxyglucose uptake only in the tumor and tumor thrombus, and radical surgery was planned. Intraoperatively, the tumor was visible on the posterior stomach wall, and the tumor adhered to the pancreas and left kidney. We excised the tumor with part of the pancreas and the left kidney and excised the thrombus from the IVC after clamping. The final diagnosis was ACC, tumor-node-metastasis grade T3N1M0, stage III. The patient received chemotherapy and radiotherapy postoperatively; however, two liver metastases appeared 6 months after surgery. Chemotherapy was continued, and no exacerbation of the liver metastases was observed. Posterior segment resection of the liver was performed 16 months after the initial surgery. Conclusion: This report of a rare case of ACC involving the pancreas with tumor thrombus extension to the IVC stresses that this combination of conditions does not preclude radical surgery. However, more data are needed regarding chemotherapy and radiotherapy, as well as relapse treatment, and further research on ACC is essential for a favorable prognosis

Supplementary Material for: Novel Nonsense Mutation in the <b><i>NLRP7</i></b> Gene Associated with Recurrent Hydatidiform Mole

<b><i>Aim:</i></b> This study aimed to clarify the genetic and epigenetic features of recurrent hydatidiform mole (RHM) in Japanese patients. <b><i>Methods:</i></b> Four Japanese isolated RHM cases were analyzed using whole-exome sequencing. Villi from RHMs were collected by laser microdissection for genotyping and DNA methylation assay of differentially methylated regions (DMRs). Single nucleotide polymorphisms of <i>PEG3</i> and <i>H19</i> DMRs were used to confirm the parental origin of the variants. <b><i>Results:</i></b> A novel homozygous nonsense mutation in <i>NLRP7</i> (c.584G>A; p.W195X) was identified in 1 patient. Genotyping of one of her molar tissue revealed that it was biparental but not androgenetic in origin. Despite the fact that the RHM is biparental, maternally methylated DMRs of <i>PEG3</i>, <i>SNRPN</i> and <i>PEG10</i> showed complete loss of DNA methylation. A paternally methylated DMR of <i>H19</i> retained normal methylation. <b><i>Conclusions:</i></b> This is the first Japanese case of RHM with a novel homozygous nonsense <i>NLRP7</i> mutation and a specific loss of maternal DNA methylation of DMRs. Notably, the mutation was identified in an isolated case of an ethnic background that has not previously been studied in this context. Our data underscore the involvement of <i>NLRP7</i> in RHM pathophysiology and confirm that DNA methylation of specific regions is critical