Article
Endocrinology & Metabolism
Celso E. Gomez-Sanchez, Desmare van Rooyen, William E. Rainey, Kazutaka Nanba, Amy R. Blinder, Radhakrishna Baliga
Summary: Aldosterone-producing adenoma is a rare cause of hypertension in children. This study describes a novel somatic KCNJ5 p.I157S mutation in an aldosterone-producing adenoma from a 16-year-old black female. Prompt diagnosis and early identification of gene mutations can lead to appropriate therapy and reduce cardiovascular sequelae.
FRONTIERS IN ENDOCRINOLOGY
(2022)
Review
Biochemistry & Molecular Biology
Takumi Kitamoto, Tetsuo Nishikawa
Summary: Hypertension caused by primary aldosteronism poses a greater risk of severe cardiovascular complications compared to essential hypertension. The discovery of the KCNJ5 somatic mutation and the presence of CYP11B2-positive aldosterone-producing micronodules have significantly advanced our understanding of the pathogenesis of primary aldosteronism.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Oncology
Yi-Yao Chang, Chien-Ting Pan, Zheng-Wei Chen, Cheng-Hsuan Tsai, Shih-Yuan Peng, Chin-Chen Chang, Bo-Ching Lee, Che-Wei Liao, Kang-Yung Peng, Yu-Wei Chiu, Chia-Hung Chou, Vin-Cent Wu, Li-Yu Daisy Liu, Chi-Sheng Hung, Yen-Hung Lin
Summary: This study investigated the impact of KCNJ5 mutations in APA patients, finding that patients with KCNJ5 mutations showed greater improvement in arterial stiffness after adrenalectomy compared to those without mutations. These results suggest that KCNJ5 mutations may play a role in influencing cardiovascular outcomes in APA patients.
Article
Endocrinology & Metabolism
Linghui Kong, Jin Zhang, Lei Dong, Jianzhong Xu, Ping-Jin Gao, Ji-Guang Wang, Limin Zhu
Summary: This case report describes a 29-year-old female patient who underwent complete adrenalectomy for left aldosterone-producing adenoma in 2004 and partial right adrenalectomy for recurrent primary aldosteronism in 2018. Sanger sequencing revealed that both left and right adenomas carried the same aldosterone-driver KCNJ5 gene mutation.
FRONTIERS IN ENDOCRINOLOGY
(2021)
Article
Peripheral Vascular Disease
Shinji Kishimoto, Kenji Oki, Tatsuya Maruhashi, Masato Kajikawa, Aya Mizobuchi, Takahiro Harada, Takayuki Yamaji, Yu Hashimoto, Kenichi Yoshimura, Yukiko Nakano, Chikara Goto, Farina Mohamad Yusoff, Ayumu Nakashima, Yukihito Higashi
Summary: This study aimed to evaluate the effects of KCNJ5 mutation on vascular function and vascular structure in aldosterone-producing adenoma (APA) and the effects of adrenalectomy on these factors in APA patients with and without KCNJ5 mutation. The study found that APA patients had lower flow-mediated vasodilation (FMD) and nitroglycerine-induced vasodilation (NID) compared to patients with essential hypertension (EHT). After adrenalectomy, FMD and NID significantly improved in APA patients with KCNJ5 mutation, while only NID improved in APA patients without KCNJ5 mutation.
HYPERTENSION RESEARCH
(2023)
Article
Biochemistry & Molecular Biology
Kang-Yung Peng, Hung-Wei Liao, Jeff S. Chueh, Chien-Yuan Pan, Yen-Hung Lin, Yung-Ming Chen, Peng-Ying Chen, Chun-Lin Huang, Vin-Cent Wu
Summary: Mutated KCNJ5 channel plays a crucial role in the pathogenesis of aldosterone-producing adenoma, disrupting potassium ion selectivity and increasing autonomous aldosterone production. Immunohistochemical and patch-clamp experiments confirmed the functional properties of the mutation, while macrolide antibiotics were ineffective in interfering with the aberrant electrophysiological properties induced by the mutation.
Article
Endocrinology & Metabolism
Kazuki Nakai, Katsunori Manaka, Junichiro Sato, Maki Takeuchi, Yuto Yamazaki, Hironobu Sasano, Yuya Tsurutani, Jun Saito, Tetsuo Nishikawa, Taroh Ri, Masaomi Nangaku, Noriko Makita
Summary: This study investigates the association between the size and aldosterone-producing ability of aldosterone-producing adenomas. The results suggest that larger tumors have higher aldosterone-producing ability, and there are differences in pathology and gene mutations.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2022)
Article
Biochemistry & Molecular Biology
Jacopo Pieroni, Yuto Yamazaki, Xin Gao, Yuta Tezuka, Hiroko Ogata, Kei Omata, Yoshikiyo Ono, Ryo Morimoto, Yasuhiro Nakamura, Fumitoshi Satoh, Hironobu Sasano
Summary: The study revealed that in aldosterone-producing adenomas and idiopathic hyperaldosteronism, cells in the zona glomerulosa exhibited significantly higher levels of senescence compared to other regions. Additionally, laboratory findings of primary aldosteronism were significantly correlated with specific gene mutations.
Review
Endocrinology & Metabolism
Fatin Athirah Pauzi, Elena Aisha Azizan
Summary: Primary aldosteronism is a common curable form of secondary hypertension, often caused by the overproduction of aldosterone in the adrenal glands. The detection of aldosterone synthase through immunohistochemistry can identify aldosterone-producing cell clusters, potentially contributing to hyperaldosteronism.
FRONTIERS IN ENDOCRINOLOGY
(2021)
Review
Endocrinology & Metabolism
Kazutaka Nanba, William E. Rainey
Summary: Primary aldosteronism is a common cause of secondary hypertension, and recent studies have revealed that most aldosterone-producing adenomas harbor somatic mutations in aldosterone-driver genes. These mutations alter intracellular ion homeostasis and enhance aldosterone production, with evidence suggesting that race and sex impact the somatic mutation spectrum of APA.
EUROPEAN JOURNAL OF ENDOCRINOLOGY
(2021)
Article
Biochemistry & Molecular Biology
Shogo Harashima, Yuto Yamazaki, Naoki Motomura, Yoshikiyo Ono, Kei Omata, Yuta Tezuka, Ryo Morimoto, Yasuhiro Nakamura, Fumitoshi Satoh, Hiroyoshi Suzuki, Go Eun Kwon, Man Ho Choi, Hironobu Sasano
Summary: This study analyzed the histological characteristics, cholesterol metabolism, and differences related to gene mutations in aldosterone-producing adenomas (APAs). The results showed that mutated KCNJ5 genes in APAs were associated with higher plasma aldosterone concentration and more lipid droplets in compact tumor cells compared to non-mutated APAs. Additionally, cholesterol uptake and synthesis were found to be different between clear and compact tumor cells, with mutated KCNJ5 APAs showing enhanced cholesterol ester uptake and de novo synthesis.
JOURNAL OF STEROID BIOCHEMISTRY AND MOLECULAR BIOLOGY
(2022)
Article
Peripheral Vascular Disease
Vin-Cent Wu, Kang-Yung Peng, Yu-Ping Kuo, Hsuan Liu, Bertrand Chin-Ming Tan, Yen-Hung Lin, Tai-Shuan Lai, Yung-Ming Chen, Jeff S. Chueh
Summary: In patients with unilateral primary aldosteronism, the coexistence of aldosterone-producing micronodules/nodules may have a negative impact on clinical success, as these patients are more likely to have persistent hypertension post-adrenalectomy. This may be explained by the attenuated HTR2B-mediated PLC/IP3/Ca2(+) pathway in Group A adenomas, as revealed by pathway enrichment analysis based on RNA-seq data.
Article
Endocrinology & Metabolism
Yi-Ju Chen, Kang-Yung Peng, Jeff S. Chueh, Hung-Wei Liao, Tsung-Yi Hsieh, Vin-Cent Wu, Shuo-Meng Wang
Summary: This study reported a PA patient with concomitant ACS, showing that bilateral APM may coexist with histopathologically classical and non-classical PA adenomas with different somatic mutations.
FRONTIERS IN ENDOCRINOLOGY
(2022)
Article
Endocrinology & Metabolism
Bo-Ching Lee, Victor Jing-Wei Kang, Chien-Ting Pan, Jia-Zheng Huang, Yu-Li Lin, Yi-Yao Chang, Cheng-Hsuan Tsai, Chia-Hung Chou, Zheng-Wei Chen, Che-Wei Liao, Yu-Wei Chiu, Vin-Cent Wu, Chi-Sheng Hung, Chin-Chen Chang, Yen-Hung Lin
Summary: KCNJ5 mutation carriers had less calcification burden of the aorta, thickened aortic wall, and less wall thickness progression than non-carriers.
FRONTIERS IN ENDOCRINOLOGY
(2022)
Article
Endocrinology & Metabolism
Liling Zhao, Jinjing Wan, Yujun Wang, Wenjun Yang, Qi Liang, Jinrong Wang, Ping Jin
Summary: This study presents a rare case of co-existing Cushing's syndrome and primary aldosteronism caused by bilateral adrenocortical adenomas secreting aldosterone and cortisol. Through clinical examinations and pathological analysis, it was found that the heterogeneity of tumor cell compositions and a mutation in the KCNJ5 gene may have led to different hormone secretions in the bilateral adrenal adenomas.
FRONTIERS IN ENDOCRINOLOGY
(2023)
Article
Endocrinology & Metabolism
Kazhan Mollazadegan, Britt Skogseid, Johan Botling, Tobias Akerstrom, Barbro Eriksson, Staffan Welin, Anders Sundin, Joakim Crona
Summary: This retrospective study investigated the treatment patterns and outcomes for patients with secondary panNET-G3. The results found that both platinum-etoposide chemotherapy and conventional panNET therapies had relatively short median overall survival and progression-free survival. The study highlights the challenges in treating this type of tumor.
ENDOCRINE CONNECTIONS
(2022)
Meeting Abstract
Oncology
J. Isaksson, A. Berglund, K. Louie, A. Hamidian, A. Edsjo, M. Johansson, A. Hallqvist, G. Wagenius, L. Willen, J. Botling
ANNALS OF ONCOLOGY
(2022)
Article
Oncology
Anand Khadse, Vilde D. Haakensen, Laxmi Silwal-Pandit, Julian Hamfjord, Patrick Micke, Johan Botling, Odd Terje Brustugun, Ole Christian Lingjaerde, Aslaug Helland, Elin H. Kure
Summary: LOH in KRAS is associated with prognosis in early-stage lung adenocarcinoma, especially in cases with mutations. Patients with both KRAS mutation and LOH have a better prognosis compared to those with only KRAS mutation.
FRONTIERS IN ONCOLOGY
(2022)
Article
Surgery
Iurii Snopok, Richard Viebahn, Martin Walz, Panagiota Zgoura, Pier Francesco Alesina
Summary: This study compared the outcomes of minimally invasive video-assisted parathyroidectomy (MIVAP) and conventional surgery for renal hyperparathyroidism (rHPT). The results showed that MIVAP had a smaller incision, shorter operation duration, and shorter duration of stay compared to conventional surgery, but had a smaller drop in postoperative parathyroid hormone (PTH) levels. MIVAP was superior to conventional surgery in terms of aesthetic outcomes and cost effectiveness, while conventional surgery showed better control of PTH levels and health scores on follow-up.
UPDATES IN SURGERY
(2022)
Article
Surgery
Matilda Anneback, Edward McHale Sjodin, Per Hellman, Peter Stalberg, Olov Norlen
Summary: This retrospective cohort study investigated the potential benefit of preoperative active vitamin D supplementation on hypocalcaemia and its symptoms after thyroidectomy. The study found that preoperative alfacalcidol treatment was associated with reduced biochemical hypocalcaemia and duration of hospital stay.
Review
Endocrinology & Metabolism
Katharina Wang, Joakim Crona, Felix Beuschlein, Ashley B. Grossman, Karel Pacak, Svenja Noelting
Summary: Molecular targeted therapy plays an important role in the treatment of metastatic pheochromocytomas and paragangliomas. Some therapies are already in use with promising results, while others are still under evaluation in clinical trials. The development of molecular targeted therapies is of great significance for future tumor treatment.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2022)
Article
Oncology
Teijo Pellinen, Lassi Paavolainen, Alfonso Martin-Bernabe, Renata Papatella Araujo, Carina Strell, Artur Mezheyeuski, Max Backman, Linnea La Fleur, Oscar Bruck, Jonas Sjolund, Erik Holmberg, Katja Valimaki, Hans Brunnstrom, Johan Botling, Pablo Moreno-Ruiz, Olli Kallioniemi, Patrick Micke, Arne Ostman
Summary: This study used multiplex fluorescence immunohistochemistry to study the tumor microenvironment in non-small cell lung cancer (NSCLC) and identified multiple cancer-associated fibroblast (CAF) subsets. The results showed that CAFs play a significant role in NSCLC progression and may have potential as biomarkers or therapeutic targets.
JNCI-JOURNAL OF THE NATIONAL CANCER INSTITUTE
(2023)
Article
Surgery
Josefine Kjaer, Sara Smith, Per Hellman, Peter Stalberg, Joakim Crona, Staffan Welin, Olov Norlen
Summary: This study aimed to determine the survival rates of patients with stage IV neuroendocrine pancreatic tumors who met the criteria for liver transplantation. The results showed a 5-year survival rate of 64.7% for stage IV pan-NET patients, and the survival rates for patients meeting the Milan, ENETS, and UNOS criteria were 64.9%, 85.7%, and 55.4% respectively.
WORLD JOURNAL OF SURGERY
(2023)
Article
Endocrinology & Metabolism
Suman Ghosal, Katerina Hadrava Vanova, Ondrej Uher, Shaoli Das, Mayank Patel, Leah Meuter, Thanh-Truc Huynh, Abhishek Jha, Sara Talvacchio, Marianne Knue, Tamara Prodanov, Martha A. Zeiger, Naris Nilubol, David Taieb, Joakim Crona, Uma T. Shankavaram, Karel Pacak
Summary: In this study, we analyzed transcriptomic data from NENs to identify immune cell infiltration signatures, particularly in PCPG. We validated the immune signature of PCPG using an independent cohort. We identified five dominant immune clusters in PCPG, associated with different immune cell types. Furthermore, we developed a prognostic immune score model that could predict non-aggressive and non-metastatic diseases.
Meeting Abstract
Oncology
E. Thunnissen, A. Borczuk, M. B. Beasly, M. Tsao, K. Kerr, S. Dacic, Y. Minami, A. Nicholson, B. Lissenberg-Witte, A. Roden, M. Papotti, C. Poleri, B. Travis, D. Jain, G. Pelosi, J. H. Chung, J. Botling, L. Bubendorf, M. Mino-Kenudson, N. Motoi, S. Lantuejoul, W. Cooper, D. Hwang, A. Moreira, M. Noguchi
JOURNAL OF THORACIC ONCOLOGY
(2022)
Meeting Abstract
Oncology
A. Lindberg, A. Grandon, H. Yu, V. Thurfjell, A. Cederholm, A. Klemm, H. Brunnstrom, J. Botling, P. Micke, C. Strell
JOURNAL OF THORACIC ONCOLOGY
(2022)
Meeting Abstract
Oncology
J. Mattsson, V. Thurfjell, T. Goldmann, R. Krupar, H. Brunnstrom, K. Lamberg, M. Gulyas, J. Botling, P. Micke
JOURNAL OF THORACIC ONCOLOGY
(2022)
Meeting Abstract
Oncology
M. Backman, H. Elfving, H. Brunnstrom, J. S. M. Mattsson, J. Isaksson, L. La Fleur, K. Karre, F. Ponten, K. Lamberg, C. Lindskog, M. Gulyas, C. Strell, J. Botling, A. Mezheyeuski, P. Micke
JOURNAL OF THORACIC ONCOLOGY
(2022)
Meeting Abstract
Oncology
Tahsin M. Khan, Elizabeth A. Hedges, Alexander Rossi, Tamara Prodanov, Henri Timmers, Joakim Crona, Tobias Akerstrom, Karel Pacak, Naris Nilubol
ANNALS OF SURGICAL ONCOLOGY
(2022)