Emerging molecular markers of metastatic pheochromocytomas and paragangliomas

Goncalves, Judith; Lussey-Lepoutre, Charlotte; Favier, Judith; Gimenez-Roqueplo, Anne-Paule; Castro-Vega, Luis Jaime

doi:10.1016/j.ando.2019.04.003

Cited by 16 publications

(11 citation statements)

References 60 publications

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“…Several new biomarkers have been discovered that are helpful in differentiating metastatic from non-metastatic tumors and thus prognostication. Major reduction in expression of one putative lncRNA (long non-coding RNA, GenBank: BC063866) has been re-reported in metastatic SDHx-related tumors, which itself is an independent risk factor associated with poor clinical outcomes [84,85]. Other metastatic biomarkers identified are hypermethylation of RDBP (negative elongation factor complex member E) promoter and a six-miRNA signature that co-relate time to disease progression [86][87][88].…”

Section: Emerging Molecular Genetics and Future Perspectivesmentioning

confidence: 99%

New Insights on the Genetics of Pheochromocytoma and Paraganglioma and Its Clinical Implications

Jhawar

Arakawa

Kumar

et al. 2022

Cancers

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Pheochromocytomas (PHEOs) and paragangliomas (PGLs) are rare neuroendocrine tumors that arise from chromaffin cells. PHEOs arise from the adrenal medulla, whereas PGLs arise from the neural crest localized outside the adrenal gland. Approximately 40% of all cases of PPGLs (pheochromocytomas/paragangliomas) are associated with germline mutations and 30–40% display somatic driver mutations. The mutations associated with PPGLs can be classified into three groups. The pseudohypoxic group or cluster I includes the following genes: SDHA, SDHB, SDHC, SDHD, SDHAF2, FH, VHL, IDH1/2, MHD2, EGLN1/2 and HIF2/EPAS; the kinase group or cluster II includes RET, NF1, TMEM127, MAX and HRAS; and the Wnt signaling group or cluster III includes CSDE1 and MAML3. Underlying mutations can help understand the clinical presentation, overall prognosis and surveillance follow-up. Here we are discussing the new genetic insights of PPGLs.

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Section: Emerging Molecular Genetics and Future Perspectivesmentioning

confidence: 99%

New Insights on the Genetics of Pheochromocytoma and Paraganglioma and Its Clinical Implications

Jhawar

Arakawa

Kumar

et al. 2022

Cancers

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“…As a rare neuroendocrine tumor, PPGL were mostly benign and could be cured by surgery ( 47 ). However, due to the limitations of precise diagnostic tools and effective treatment methods, metastatic PPGL had become a major challenge in the medical field ( 48 , 49 ). Nowadays, more and more attention had been paid to the targeted therapy of PPGL ( 50 ).…”

Section: Discussionmentioning

confidence: 99%

Seven Novel Genes Related to Cell Proliferation and Migration of VHL-Mutated Pheochromocytoma

Gao

Liu

et al. 2021

Front. Endocrinol.

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Pheochromocytoma, as a neuroendocrine tumor with the highest genetic correlation in all types of tumors, has attracted extensive attention. Von Hipper Lindau (VHL) has the highest mutation frequency among the genes associated with pheochromocytoma. However, the effect of VHL on the proteome of pheochromocytoma remains to be explored. In this study, the VHL knockdown (VHL-KD) PC12 cell model was established by RNA interference (shRNA). We compared the proteomics of VHL-KD and VHL-WT PC12 cell lines. The results showed that the expression of 434 proteins (VHL shRNA/WT > 1.3) changed significantly in VHL-KD-PC12 cells. Among the 434 kinds of proteins, 83 were involved in cell proliferation, cell cycle and cell migration, and so on. More importantly, among these proteins, we found seven novel key genes, including Connective Tissue Growth Factor (CTGF), Syndecan Binding Protein (SDCBP), Cysteine Rich Protein 61 (CYR61/CCN1), Collagen Type III Alpha 1 Chain (COL3A1), Collagen Type I Alpha 1 Chain (COL1A1), Collagen Type V Alpha 2 Chain (COL5A2), and Serpin Family E Member 1 (SERPINE1), were overexpressed and simultaneously regulated cell proliferation and migration in VHL-KD PC12 cells. Furthermore, the abnormal accumulation of HIF2α caused by VHL-KD significantly increased the expression of these seven genes during hypoxia. Moreover, cell-counting, scratch, and transwell assays demonstrated that VHL-KD could promote cell proliferation and migration, and changed cell morphology. These findings indicated that inhibition of VHL expression could promote the development of pheochromocytoma by activating the expression of cell proliferation and migration associated genes.

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“…Though the majority of cases are surgically resectable, those that advance to a malignant state have an intractable clinical course. Secondary to long latency periods between the discovery of primary tumor and metastasis, patients suspected of having metastatic disease require lifelong surveillance [14]. Previous studies have demonstrated the mean time to recurrence after initial resection to be approximately 3-6 years [10,15].…”

Section: Discussionmentioning

confidence: 99%

Metastatic Acetabular Fracture: A Rare Disease Presentation of Recurrent Head and Neck Paraganglioma

Patchana

Fan

Jiganti³

et al. 2020

Cureus

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We present a case of a rare metastatic bone lesion of the acetabulum, associated with a pathologic fracture, found to be metastasis from a malignant carotid body paraganglioma upon histological analysis. We present a report of the patient's clinical course following the identification of metastatic disease to the right acetabulum, as well as a review of paragangliomas and their propensity for metastasis.

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Emerging molecular markers of metastatic pheochromocytomas and paragangliomas

Cited by 16 publications

References 60 publications

New Insights on the Genetics of Pheochromocytoma and Paraganglioma and Its Clinical Implications

New Insights on the Genetics of Pheochromocytoma and Paraganglioma and Its Clinical Implications

Seven Novel Genes Related to Cell Proliferation and Migration of VHL-Mutated Pheochromocytoma

Metastatic Acetabular Fracture: A Rare Disease Presentation of Recurrent Head and Neck Paraganglioma

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