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WenQi Yuan Department of Endocrine and Metabolic Diseases, Laboratory of Endocrine and Metabolic Diseases, Division of Endocrine and Metabolic Diseases, School of Medicine, Shanghai Clinical Center for Endocrine and Metabolic Diseases, Ruijin Hospital, Shanghai JiaoTong University, 197 Ruijin Er Lu, Shanghai 200025, People's Republic of China
Department of Endocrine and Metabolic Diseases, Laboratory of Endocrine and Metabolic Diseases, Division of Endocrine and Metabolic Diseases, School of Medicine, Shanghai Clinical Center for Endocrine and Metabolic Diseases, Ruijin Hospital, Shanghai JiaoTong University, 197 Ruijin Er Lu, Shanghai 200025, People's Republic of China

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WeiQinq Wang Department of Endocrine and Metabolic Diseases, Laboratory of Endocrine and Metabolic Diseases, Division of Endocrine and Metabolic Diseases, School of Medicine, Shanghai Clinical Center for Endocrine and Metabolic Diseases, Ruijin Hospital, Shanghai JiaoTong University, 197 Ruijin Er Lu, Shanghai 200025, People's Republic of China
Department of Endocrine and Metabolic Diseases, Laboratory of Endocrine and Metabolic Diseases, Division of Endocrine and Metabolic Diseases, School of Medicine, Shanghai Clinical Center for Endocrine and Metabolic Diseases, Ruijin Hospital, Shanghai JiaoTong University, 197 Ruijin Er Lu, Shanghai 200025, People's Republic of China

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Bin Cui Department of Endocrine and Metabolic Diseases, Laboratory of Endocrine and Metabolic Diseases, Division of Endocrine and Metabolic Diseases, School of Medicine, Shanghai Clinical Center for Endocrine and Metabolic Diseases, Ruijin Hospital, Shanghai JiaoTong University, 197 Ruijin Er Lu, Shanghai 200025, People's Republic of China
Department of Endocrine and Metabolic Diseases, Laboratory of Endocrine and Metabolic Diseases, Division of Endocrine and Metabolic Diseases, School of Medicine, Shanghai Clinical Center for Endocrine and Metabolic Diseases, Ruijin Hospital, Shanghai JiaoTong University, 197 Ruijin Er Lu, Shanghai 200025, People's Republic of China

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TingWei Su Department of Endocrine and Metabolic Diseases, Laboratory of Endocrine and Metabolic Diseases, Division of Endocrine and Metabolic Diseases, School of Medicine, Shanghai Clinical Center for Endocrine and Metabolic Diseases, Ruijin Hospital, Shanghai JiaoTong University, 197 Ruijin Er Lu, Shanghai 200025, People's Republic of China

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Yan Ge Department of Endocrine and Metabolic Diseases, Laboratory of Endocrine and Metabolic Diseases, Division of Endocrine and Metabolic Diseases, School of Medicine, Shanghai Clinical Center for Endocrine and Metabolic Diseases, Ruijin Hospital, Shanghai JiaoTong University, 197 Ruijin Er Lu, Shanghai 200025, People's Republic of China
Department of Endocrine and Metabolic Diseases, Laboratory of Endocrine and Metabolic Diseases, Division of Endocrine and Metabolic Diseases, School of Medicine, Shanghai Clinical Center for Endocrine and Metabolic Diseases, Ruijin Hospital, Shanghai JiaoTong University, 197 Ruijin Er Lu, Shanghai 200025, People's Republic of China

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Lei Jiang Department of Endocrine and Metabolic Diseases, Laboratory of Endocrine and Metabolic Diseases, Division of Endocrine and Metabolic Diseases, School of Medicine, Shanghai Clinical Center for Endocrine and Metabolic Diseases, Ruijin Hospital, Shanghai JiaoTong University, 197 Ruijin Er Lu, Shanghai 200025, People's Republic of China

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WeiWei Zhou Department of Endocrine and Metabolic Diseases, Laboratory of Endocrine and Metabolic Diseases, Division of Endocrine and Metabolic Diseases, School of Medicine, Shanghai Clinical Center for Endocrine and Metabolic Diseases, Ruijin Hospital, Shanghai JiaoTong University, 197 Ruijin Er Lu, Shanghai 200025, People's Republic of China

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Guang Ning Department of Endocrine and Metabolic Diseases, Laboratory of Endocrine and Metabolic Diseases, Division of Endocrine and Metabolic Diseases, School of Medicine, Shanghai Clinical Center for Endocrine and Metabolic Diseases, Ruijin Hospital, Shanghai JiaoTong University, 197 Ruijin Er Lu, Shanghai 200025, People's Republic of China
Department of Endocrine and Metabolic Diseases, Laboratory of Endocrine and Metabolic Diseases, Division of Endocrine and Metabolic Diseases, School of Medicine, Shanghai Clinical Center for Endocrine and Metabolic Diseases, Ruijin Hospital, Shanghai JiaoTong University, 197 Ruijin Er Lu, Shanghai 200025, People's Republic of China
Department of Endocrine and Metabolic Diseases, Laboratory of Endocrine and Metabolic Diseases, Division of Endocrine and Metabolic Diseases, School of Medicine, Shanghai Clinical Center for Endocrine and Metabolic Diseases, Ruijin Hospital, Shanghai JiaoTong University, 197 Ruijin Er Lu, Shanghai 200025, People's Republic of China

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To analyze the genetic alterations of pheochromocytomas and evaluate the difference among malignant, extra-adrenal, and benign pheochromocytomas. Forty-three tumor samples were tested for genetic changes using multiplex ligation-dependent probe amplification. Among them, 39 samples were available for protein expression analysis by immunohistochemistry (IHC). All 43 patients (24 women and 19 men; mean age 44.6±13.6 years; range 18–75 years; 9 with malignant, 7 extra-adrenal, and 27 benign) showed multiple copy number losses or gains. The average copy number change was 13.10 in malignant, 13.93 in benign, and 13.47 in paraganglioma patients. There is no significant difference among the three groups of pheochromocytomas. However, we discovered that in the malignant pheochromocytomas, 6 of the 9 patients (67%) showed erythroblastic leukemia viral oncogene homolog 2 (ERBB-2) oncogene gain, whereas only 12 of the 34 (35%) identified change in the benign and extra-adrenal pheochromocytomas. Further, IHC confirmed that ERBB-2-positive staining was more frequent and stronger in malignant pheochromocytomas than in benign and extra-adrenal pheochromocytomas. Our study illustrates the chromosomal changes of the whole genome of Chinese pheochromocytoma patients. The results suggest that there may be certain progression of genetic events that involves chromosomes 1p, 3p, 6p, 11q, 12q, 17q, and 19q in the development of pheochromocytomas, and the activation of ERBB-2 located on chromosome 17q is an important and early event in the malignancy development of these tumor types. The overexpression of ERBB-2 identified by IHC suggested that this oncogene could be associated with the malignancy of pheochromocytomas and paragangliomas.

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Jie Cai School of Medicine, BGI-Shenzhen, Laboratory for Endocrine and Metabolic Diseases of Institute of Health Science, Shanghai Clinical Center for Endocrine and Metabolic Diseases, Ruijin Hospital, Shanghai Jiao Tong University, #197 Ruijin 2nd Road, Shanghai 200025 People's Republic of China

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Lin Li School of Medicine, BGI-Shenzhen, Laboratory for Endocrine and Metabolic Diseases of Institute of Health Science, Shanghai Clinical Center for Endocrine and Metabolic Diseases, Ruijin Hospital, Shanghai Jiao Tong University, #197 Ruijin 2nd Road, Shanghai 200025 People's Republic of China

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Lei Ye School of Medicine, BGI-Shenzhen, Laboratory for Endocrine and Metabolic Diseases of Institute of Health Science, Shanghai Clinical Center for Endocrine and Metabolic Diseases, Ruijin Hospital, Shanghai Jiao Tong University, #197 Ruijin 2nd Road, Shanghai 200025 People's Republic of China

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Xiaohua Jiang School of Medicine, BGI-Shenzhen, Laboratory for Endocrine and Metabolic Diseases of Institute of Health Science, Shanghai Clinical Center for Endocrine and Metabolic Diseases, Ruijin Hospital, Shanghai Jiao Tong University, #197 Ruijin 2nd Road, Shanghai 200025 People's Republic of China

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Liyun Shen School of Medicine, BGI-Shenzhen, Laboratory for Endocrine and Metabolic Diseases of Institute of Health Science, Shanghai Clinical Center for Endocrine and Metabolic Diseases, Ruijin Hospital, Shanghai Jiao Tong University, #197 Ruijin 2nd Road, Shanghai 200025 People's Republic of China

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Zhibo Gao School of Medicine, BGI-Shenzhen, Laboratory for Endocrine and Metabolic Diseases of Institute of Health Science, Shanghai Clinical Center for Endocrine and Metabolic Diseases, Ruijin Hospital, Shanghai Jiao Tong University, #197 Ruijin 2nd Road, Shanghai 200025 People's Republic of China

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Weiyuan Fang School of Medicine, BGI-Shenzhen, Laboratory for Endocrine and Metabolic Diseases of Institute of Health Science, Shanghai Clinical Center for Endocrine and Metabolic Diseases, Ruijin Hospital, Shanghai Jiao Tong University, #197 Ruijin 2nd Road, Shanghai 200025 People's Republic of China

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Fengjiao Huang School of Medicine, BGI-Shenzhen, Laboratory for Endocrine and Metabolic Diseases of Institute of Health Science, Shanghai Clinical Center for Endocrine and Metabolic Diseases, Ruijin Hospital, Shanghai Jiao Tong University, #197 Ruijin 2nd Road, Shanghai 200025 People's Republic of China

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Tingwei Su School of Medicine, BGI-Shenzhen, Laboratory for Endocrine and Metabolic Diseases of Institute of Health Science, Shanghai Clinical Center for Endocrine and Metabolic Diseases, Ruijin Hospital, Shanghai Jiao Tong University, #197 Ruijin 2nd Road, Shanghai 200025 People's Republic of China

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Yulin Zhou School of Medicine, BGI-Shenzhen, Laboratory for Endocrine and Metabolic Diseases of Institute of Health Science, Shanghai Clinical Center for Endocrine and Metabolic Diseases, Ruijin Hospital, Shanghai Jiao Tong University, #197 Ruijin 2nd Road, Shanghai 200025 People's Republic of China

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Weiqing Wang School of Medicine, BGI-Shenzhen, Laboratory for Endocrine and Metabolic Diseases of Institute of Health Science, Shanghai Clinical Center for Endocrine and Metabolic Diseases, Ruijin Hospital, Shanghai Jiao Tong University, #197 Ruijin 2nd Road, Shanghai 200025 People's Republic of China

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Guang Ning School of Medicine, BGI-Shenzhen, Laboratory for Endocrine and Metabolic Diseases of Institute of Health Science, Shanghai Clinical Center for Endocrine and Metabolic Diseases, Ruijin Hospital, Shanghai Jiao Tong University, #197 Ruijin 2nd Road, Shanghai 200025 People's Republic of China
School of Medicine, BGI-Shenzhen, Laboratory for Endocrine and Metabolic Diseases of Institute of Health Science, Shanghai Clinical Center for Endocrine and Metabolic Diseases, Ruijin Hospital, Shanghai Jiao Tong University, #197 Ruijin 2nd Road, Shanghai 200025 People's Republic of China

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Activating rearranged during transfection (RET) mutations function as the initiating causative mutation for multiple endocrine neoplasia type 2A (MEN2A). However, no conclusive findings regarding the non-RET genetic events have been reported. This is the first study, to our knowledge, examining genomic alterations in matched MEN2A-associated tumors. We performed exome sequencing and SNP array analysis of matched MEN2A tumors and germline DNA. Somatic alterations were validated in an independent set of patients using Sanger sequencing. Genes of functional interest were further evaluated. The germline RET mutation was found in all MEN2A-component tumors. Thirty-two somatic mutations were identified in the nine MEN2A-associated tumors, of which 28 (87.5%) were point mutations and 4 (12.5%) were small insertions, duplications, or deletions. We sequenced all the mutations as well as coding sequence regions of the 12 genes in an independent sample set including 35 medullary thyroid cancers (20 MEN2A) and 34 PCCs (22 MEN2A), but found no recurrent mutations. Recurrent alterations were found in 13 genes with either mutations or alterations in copy number, including an EIF4G1 mutation (p. E1147V). Mutation of EIF4G1 led to increased cell proliferation and RET/MAPK phosphorylation, while knockdown of EIF4G1 led to reduced cell proliferation and RET/MAPK phosphorylation in TT, MZ-CRC1, and PC-12 cells. We found fewer somatic mutations in endocrine tumors compared with non-endocrine tumors. RET was the primary driver in MEN2A-associated tumors. However, low-frequency alterations such as EIF4G1 might participate in MEN2A-associated tumorigenesis, possibly by regulating the activity of the RET pathway.

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Yu-fang Bi Department of Endocrinology and Metabolism, State Key Laboratory of Medical Genomics, Department of Thoracic Surgery, Shanghai Institute of Endocrine and Metabolic Diseases, Shanghai Clinical Center for Endocrine and Metabolic Diseases

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Rui-xin Liu Department of Endocrinology and Metabolism, State Key Laboratory of Medical Genomics, Department of Thoracic Surgery, Shanghai Institute of Endocrine and Metabolic Diseases, Shanghai Clinical Center for Endocrine and Metabolic Diseases

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Lei Ye Department of Endocrinology and Metabolism, State Key Laboratory of Medical Genomics, Department of Thoracic Surgery, Shanghai Institute of Endocrine and Metabolic Diseases, Shanghai Clinical Center for Endocrine and Metabolic Diseases

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Hai Fang Department of Endocrinology and Metabolism, State Key Laboratory of Medical Genomics, Department of Thoracic Surgery, Shanghai Institute of Endocrine and Metabolic Diseases, Shanghai Clinical Center for Endocrine and Metabolic Diseases

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Xiao-ying Li Department of Endocrinology and Metabolism, State Key Laboratory of Medical Genomics, Department of Thoracic Surgery, Shanghai Institute of Endocrine and Metabolic Diseases, Shanghai Clinical Center for Endocrine and Metabolic Diseases
Department of Endocrinology and Metabolism, State Key Laboratory of Medical Genomics, Department of Thoracic Surgery, Shanghai Institute of Endocrine and Metabolic Diseases, Shanghai Clinical Center for Endocrine and Metabolic Diseases

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Wei-qing Wang Department of Endocrinology and Metabolism, State Key Laboratory of Medical Genomics, Department of Thoracic Surgery, Shanghai Institute of Endocrine and Metabolic Diseases, Shanghai Clinical Center for Endocrine and Metabolic Diseases

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Ji Zhang Department of Endocrinology and Metabolism, State Key Laboratory of Medical Genomics, Department of Thoracic Surgery, Shanghai Institute of Endocrine and Metabolic Diseases, Shanghai Clinical Center for Endocrine and Metabolic Diseases

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Kan-Kan Wang Department of Endocrinology and Metabolism, State Key Laboratory of Medical Genomics, Department of Thoracic Surgery, Shanghai Institute of Endocrine and Metabolic Diseases, Shanghai Clinical Center for Endocrine and Metabolic Diseases

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Lei Jiang Department of Endocrinology and Metabolism, State Key Laboratory of Medical Genomics, Department of Thoracic Surgery, Shanghai Institute of Endocrine and Metabolic Diseases, Shanghai Clinical Center for Endocrine and Metabolic Diseases

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Ting-wei Su Department of Endocrinology and Metabolism, State Key Laboratory of Medical Genomics, Department of Thoracic Surgery, Shanghai Institute of Endocrine and Metabolic Diseases, Shanghai Clinical Center for Endocrine and Metabolic Diseases

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Zhong-yuan Chen Department of Endocrinology and Metabolism, State Key Laboratory of Medical Genomics, Department of Thoracic Surgery, Shanghai Institute of Endocrine and Metabolic Diseases, Shanghai Clinical Center for Endocrine and Metabolic Diseases

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Guang Ning Department of Endocrinology and Metabolism, State Key Laboratory of Medical Genomics, Department of Thoracic Surgery, Shanghai Institute of Endocrine and Metabolic Diseases, Shanghai Clinical Center for Endocrine and Metabolic Diseases
Department of Endocrinology and Metabolism, State Key Laboratory of Medical Genomics, Department of Thoracic Surgery, Shanghai Institute of Endocrine and Metabolic Diseases, Shanghai Clinical Center for Endocrine and Metabolic Diseases

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Although there has been increased knowledge about the molecular biology of neuroendocrine tumors (NETs), little is known about thymic carcinoids and even less about those with excessive hormone disorders, such as ectopic ACTH syndrome. This study was designed to gain insights into the molecular networks underlying the tumorigenesis of thymic carcinoids with ACTH secretion. By an approach integrating cDNA microarray and methods of computational biology, we compare gene expression profile between ACTH-producing thymic carcinoids and the normal thymus. In total, there are 63 biological categories increased and 108 decreased in thymic carcinoids. Cell proliferation was stimulated, which may explain the relatively uncontrolled cell growth of the tumor. Dysregulation of the Notch-signaling pathway was likely to be underlying the neuroendocrine features of this type of tumors. Moreover, inhibition of immunity and increased neuropeptide signaling molecules (POMC and its sorting molecule CPE) made the clinical manifestation reasonable and thus validated the array data. In conclusion, thymic carcinoids have a distinct gene expression pattern from the normal thymus, and they are characterized by deregulations of a series of biofunctions, which may be involved in the development of NETs. Hence, this study has provided not only a detailed comprehension of the molecular pathogenesis of thymic carcinoids with ectopic ACTH syndrome, but also a road map to approach thymic NETs at the system level.

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Luming Wu Department of Endocrine and Metabolic Diseases, Shanghai Institute of Endocrine and Metabolic Diseases, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, People’s Republic of China

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Jing Xie Department of Pathology, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, People’s Republic of China

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Yan Qi Department of Endocrine and Metabolic Diseases, Shanghai Institute of Endocrine and Metabolic Diseases, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, People’s Republic of China

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Tingwei Su Department of Endocrine and Metabolic Diseases, Shanghai Institute of Endocrine and Metabolic Diseases, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, People’s Republic of China

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Lei Jiang Department of Endocrine and Metabolic Diseases, Shanghai Institute of Endocrine and Metabolic Diseases, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, People’s Republic of China

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Weiwei Zhou Department of Endocrine and Metabolic Diseases, Shanghai Institute of Endocrine and Metabolic Diseases, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, People’s Republic of China

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Yiran Jiang Department of Endocrine and Metabolic Diseases, Shanghai Institute of Endocrine and Metabolic Diseases, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, People’s Republic of China

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Cui Zhang Department of Endocrine and Metabolic Diseases, Shanghai Institute of Endocrine and Metabolic Diseases, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, People’s Republic of China

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Xu Zhong Department of Endocrine and Metabolic Diseases, Shanghai Institute of Endocrine and Metabolic Diseases, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, People’s Republic of China

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Yanan Cao Department of Endocrine and Metabolic Diseases, Shanghai Institute of Endocrine and Metabolic Diseases, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, People’s Republic of China

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Weiqing Wang Department of Endocrine and Metabolic Diseases, Shanghai Institute of Endocrine and Metabolic Diseases, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, People’s Republic of China
Shanghai National Clinical Research Center for Metabolic Diseases, Key Laboratory for Endocrine and Metabolic Diseases of the National Health Commission of the PR China, Shanghai Key Laboratory for Endocrine Tumor, State Key Laboratory of Medical Genomics, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, People's Republic of China

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Adrenal incidentalomas are the most frequent human neoplasms. Recent genomic investigations on functional adrenocortical tumors have demonstrated that somatic mutations in PRKACA and KCNJ5 responsible for the development of adrenocortical adenomas (ACAs) are associated with hypercortisolism and aldosteronism, respectively. Several studies have identified CTNNB1 mutations in ACAs and have been mostly involved in the tumorigenesis of non-functional ACA (NFACA). However, integrated genomic characterization of NFACAs is lacking. In the current study, we utilized pan-genomic methods to comprehensively analyze 60 NFACA samples. A total of 1264 somatic mutations in coding regions among the 60 samples were identified, with a median of 15 non-silent mutations per tumor. Twenty-two NFACAs (36.67%) had genetic alterations in CTNNB1. We also identified several somatic mutations in genes of the cAMP/PKA pathway and KCNJ5. Histone modification genes (KMT2A, KMT2C, and KMT2D) were altered in 10% of cases. Germline mutations of MEN1 and RET were also found. Finally, by comparison of our transcriptome data with those available in the TCGA, we illustrated the molecular characterization of NFACA. We revealed the genetic profiling and molecular landscape of NFACA. Wnt/β-catenin pathway activation as shown ssby nuclear and/or cytoplasmic β-catenin accumulation is frequent, occurring in about one–third of ACA cases. cytochrome P450 enzymes could be markers to reveal the functional status of adrenocortical tumors. These observations strongly suggest the involvement of the Wnt/β-catenin pathway in benign adrenal tumorigenesis and possibly in the regulation of steroid secretion.

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Luming Wu Department of Endocrine and Metabolic Diseases, Shanghai Institute of Endocrine and Metabolic Diseases, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, People’s Republic of China

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Jing Xie Department of Pathology, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, People’s Republic of China

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Yan Qi Department of Endocrine and Metabolic Diseases, Shanghai Institute of Endocrine and Metabolic Diseases, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, People’s Republic of China

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Tingwei Su Department of Endocrine and Metabolic Diseases, Shanghai Institute of Endocrine and Metabolic Diseases, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, People’s Republic of China

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Lei Jiang Department of Endocrine and Metabolic Diseases, Shanghai Institute of Endocrine and Metabolic Diseases, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, People’s Republic of China

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Weiwei Zhou Department of Endocrine and Metabolic Diseases, Shanghai Institute of Endocrine and Metabolic Diseases, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, People’s Republic of China

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Yiran Jiang Department of Endocrine and Metabolic Diseases, Shanghai Institute of Endocrine and Metabolic Diseases, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, People’s Republic of China

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Cui Zhang Department of Endocrine and Metabolic Diseases, Shanghai Institute of Endocrine and Metabolic Diseases, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, People’s Republic of China

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Xu Zhong Department of Endocrine and Metabolic Diseases, Shanghai Institute of Endocrine and Metabolic Diseases, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, People’s Republic of China

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Yanan Cao Department of Endocrine and Metabolic Diseases, Shanghai Institute of Endocrine and Metabolic Diseases, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, People’s Republic of China

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Weiqing Wang Department of Endocrine and Metabolic Diseases, Shanghai Institute of Endocrine and Metabolic Diseases, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, People’s Republic of China
Shanghai National Clinical Research Center for Metabolic Diseases, Key Laboratory for Endocrine and Metabolic Diseases of the National Health Commission of the PR China, Shanghai Key Laboratory for Endocrine Tumor, State Key Laboratory of Medical Genomics, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, People's Republic of China

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