Bilateral Adrenal Medullary Hyperplasia Associated With an SDHB Mutation

2011 ◽  
Vol 29 (8) ◽  
pp. e200-e202 ◽  
Author(s):  
Raymon H. Grogan ◽  
Karel Pacak ◽  
Lezlee Pasche ◽  
Thanh T. Huynh ◽  
Ralph S. Greco
2017 ◽  
Author(s):  
Edouard Mills ◽  
Pratibha Machenahalli ◽  
Ali Naqvi ◽  
Jeannie Todd
Keyword(s):  

Cancers ◽  
2021 ◽  
Vol 13 (10) ◽  
pp. 2389
Author(s):  
Yun Mi Choi ◽  
Jinyeong Lim ◽  
Min Ji Jeon ◽  
Yu-Mi Lee ◽  
Tae-Yon Sung ◽  
...  

In pheochromocytoma and paraganglioma (PPGL), germline or somatic mutations in one of the known susceptibility genes are identified in up to 60% patients. However, the peculiar genetic events that drive the aggressive behavior including metastasis in PPGL are poorly understood. We performed targeted next-generation sequencing analysis to characterize the mutation profile in fifteen aggressive PPGL patients and compared accessible data of aggressive PPGLs from The Cancer Genome Atlas (TCGA) with findings of our cohort. A total of 115 germline and 34 somatic variants were identified with a median 0.58 per megabase tumor mutation burden in our cohort. The most frequent mutation was SDHB germline mutation (27%) and the second frequent mutations were somatic mutations for SETD2, NF1, and HRAS (13%, respectively). Patients were subtyped into three categories based on the kind of mutated genes: pseudohypoxia (n = 5), kinase (n = 5), and unknown (n = 5) group. In copy number variation analysis, deletion of chromosome arm 1p harboring SDHB gene was the most frequently observed. In our cohort, SDHB mutation and pseudohypoxia subtype were significantly associated with poor overall survival. In conclusion, subtyping of mutation profile can be helpful in aggressive PPGL patients with heterogeneous prognosis to make relevant follow-up plan and achieve proper treatment.


2011 ◽  
Vol 35 (10) ◽  
pp. 1578-1585 ◽  
Author(s):  
Anthony J. Gill ◽  
Nicholas S. Pachter ◽  
Angela Chou ◽  
Barbara Young ◽  
Adele Clarkson ◽  
...  

2021 ◽  
Author(s):  
Barkavi Dhakshinamoorthy ◽  
Sath Nag ◽  
Waquar Ahmad
Keyword(s):  

Plant Disease ◽  
2015 ◽  
Vol 99 (2) ◽  
pp. 240-248 ◽  
Author(s):  
Sotirios Konstantinou ◽  
Thomas Veloukas ◽  
Michaela Leroch ◽  
George Menexes ◽  
Matthias Hahn ◽  
...  

Botrytis cinerea is a pathogen with high genetic variability that has also shown high risk for fungicide resistance development. In total, 1,169 isolates obtained from strawberry (n = 297) and tomato (n = 872) in five geographic regions of Greece were tested for their sensitivity to several botryticides. A high frequency of isolates with multiple resistance to carbendazim, cyprodinil, pyraclostrobin, and boscalid was found in isolates from strawberry. In the isolates from tomato, the predominant phenotype was that of dual resistance to carbendazim and cyprodinil in the Crete island, of single resistance to carbendazim in the region of Preveza, and of sensitive isolates in the region of Kyparissia. None of the tested isolates was found to be fludioxonil resistant. High frequencies of boscalid-resistant phenotypes were observed in the strawberry isolates, while boscalid-resistance frequency in the tomato isolates was lower. H272R was the predominant sdhB mutation, associated with resistance to boscalid, in all the sampled isolates, while other sdhB mutations were found at low frequencies. B. cinerea group S, identified by the presence of a 21-bp insertion in the transcription factor mrr1 gene, was predominant within the tomato isolates obtained from all three sampled regions, with frequencies ranging from 62 to 75% of the isolates; whereas, within strawberry isolates, B. cinerea was predominant, with frequencies of 75 to 95%. Correlations of isolate genotype and fungicide resistance profile showed that B. cinerea sensu stricto isolates were more prone to the development of resistance to boscalid compared with the Botrytis group S isolates, which may explain the observed predominance of B. cinerea sensu stricto in strawberry fields.


2020 ◽  
Vol 16 ◽  
pp. 100207 ◽  
Author(s):  
Shotaro Naganawa ◽  
Aristides A. Capizzano ◽  
Yoshiaki Ota ◽  
John Kim ◽  
Ashok Srinivasan ◽  
...  

2013 ◽  
Vol 20 (6) ◽  
pp. L23-L26 ◽  
Author(s):  
Raquel G Martins ◽  
Joana B Nunes ◽  
Valdemar Máximo ◽  
Paula Soares ◽  
Joana Peixoto ◽  
...  
Keyword(s):  

2020 ◽  
Vol 4 (Supplement_1) ◽  
Author(s):  
Jose Viana Lima ◽  
Rosa Paula Mello Biscolla ◽  
Maria Izabel Chiamolera ◽  
Marco Antonio Conde Oliveira

Abstract Introduction: The concept of malignancy for pheochromocytoma is complex and the best definition is the presence of metastases, according to WHO. Anatomopathological scoring systems are not effective in predicting metastases. Malignancy should be considered when tumors larger than 8cm (> 80g), paragangliomas (especially retroperitoneal), dopamine / methoxythyramine increase, Ki67> 6% and SDHB mutation. At 5 years, survival ranges from 50-69%. Metastases may appear 20-40 years after initial treatment of pheochromocytoma. We describe a case that metastasis was identified 33 years after pheochromocytoma excision Case report: A 57-year-old female patient with a postoperative history of 33 years of right adrenal pheochromocytoma was discharged from the endocrinologist after 10 years of follow-up. At diagnosis 33 years ago, she had symptoms of hypertension with paroxysms and weight loss that disappeared after tumor removal. 2 years investigating weight loss with general practitioner without another celebratory. On physical examination, orthostatic hypotension was highlighted. Plasma methanephrine 0.8 nmol / L (VR <0.5) and plasma normetanephrine 1.8 nmol / L (VR <0.9), chromogranin A 5.7 nmol / L (VR <3 nmol / L) and clonidine test with 36.6% suppression of metanephrines, suggesting tumor recurrence. MRI localized recurrence of the adrenals and MIBG scintigraphy with I131 that showed, respectively, in the topography next to the paracaval and retroportal right diaphragmatic crura, isointense T1 and slightly hyperintense T2 at 1.8 cm and radiopharmaceutical hypercaptation in right adrenal topography. Genetic panel by NGS did not identify germline mutation in 22 pheochromocytoma-related genes. FDG PETCT was consistent with MRI and MIBG images. Gallium PETCT68 DOTATOC detected the lesions already described, in addition to a lytic lesion in the left femoral intertrochanteric medulla. Anatomopathological approached abdominal lesion confirming pheochromocytoma metastasis in lymph node conglomerate. Currently has a negative methanephrine plasma, however chromogranin A 142 ng / mL (VR <93), and was chosen by the observant approach. Conclusion: The case of the patient illustrates that pheochromocytoma should be followed indefinitely, as metastases may appear many years later and may present different aggressiveness potentials.


1986 ◽  
Vol 59 (3) ◽  
pp. 194-194
Author(s):  
Urs A. Boelsterli ◽  
Gerhard Zbinden

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