Research progress on the pathogenesis of the SDHB mutation and related diseases

Liu, Chang; Zhou, Dayang; Yang, Kexin; Xu, Ning; Peng, Jibang; Zhu, Zhu

doi:10.1016/j.biopha.2023.115500

Cited by 4 publications

References 151 publications

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Diagnostic potential of SDHB mRNA contained in serum extracellular vesicles among patients with prostate cancer

Kato,

Sugihara,

Hata

et al. 2024

The Prostate

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BackgroundAndrogen receptor signaling inhibitors(ARSIs) have been used to treat patients with metastatic prostate cancer (PC) and castration‐resistant prostate cancer (CRPC). In this study, we aimed to identify novel serum extracellular vesicle (EV)‐based biomarkers to diagnose ARSI‐resistance and therapeutic targets for ARSI‐resistant CRPC.MethodsTotal RNA contained in serum EVs from 5 cases of CRPC before ARSI treatment and after acquiring ARSI‐resistance was subjected to RNA‐sequencing. The expression changes of selected RNAs contained in EVs were confirmed in 48 cases of benign prostatic hyperplasia (BPH) and 107 PC using reverse transcription‐quantitative PCR (RT‐qPCR) and compared with tissue RNA expression using public datasets.ResultsRNA‐sequencing revealed that mitochondrial oxidative phosphorylation (OXPHOS)‐related genes were increased in EVs after acquiring ARSI‐resistance. Among them, RT‐qPCR and datasets analysis demonstrated that SDHB mRNA was upregulated after acquiring ARSI‐resistance in EVs and ARSI‐exposed PC tissue compared to ARSI‐naïve EVs and tissue, respectively. SDHB mRNA levels both in EVs and tissue were increased in localized PC compared with BPH and decreased in advanced PC. Tissue expression of SDHB mRNA was significantly correlated with those of other OXPHOS‐related genes. SDHB mRNA in EVs (EV‐SDHB) was elevated among 3 out of 7 ARSI‐treating patients with stable PSA levels who later progressed to ARSI‐resistant CRPC.ConclusionsThe levels of OXPHOS‐related mRNAs in EVs correlated with those in PC tissue, among which SDHB mRNA was found to be a novel biomarker to diagnose ARSI‐resistance. EV‐SDHB may be useful for early diagnosis of ARSI‐resistance.

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Diagnostic potential of SDHB mRNA contained in serum extracellular vesicles among patients with prostate cancer

Kato,

Sugihara,

Hata

et al. 2024

The Prostate

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SDHB-Associated Pheochromocytomas: What is Their Clinical Behavior?

Szabo Yamashita,

Tame-Elorduy,

Skefos

et al. 2024

Ann Surg Oncol

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A Case of Lacrimal Gland Ductal Carcinoma: Clinical, Morphological and Genetic Characterization

Jin,

Wu,

Qian

et al. 2024

Preprint

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Lacrimal gland ductal carcinoma is a rare, highly invasive tumor associated with a poor prognosis, arising from the lacrimal gland ductal epithelium. This study presents a rare case of lacrimal gland ductal carcinoma, analyzed through histopathology, immunohistochemistry (IHC) staining, fluorescence in situ hybridization (FISH), and whole-exome sequencing (WES) following surgical excision. Pathological examination confirmed a lacrimal gland ductal carcinoma with different structure features, including a solid pattern with comedo necrosis, cribriform pattern, and trabecular pattern. IHC assays demonstrated negative expression for P63, Calponin, CK5/6, SMA, S100, CK14, CD117, and GCDFP-15 in the tumor cells, while CK (Pan), EMA, and mammaglobin were positively expressed. Additionally, AR, GATA3, and HER-2 showed focal weak positivity. FISH analysis revealed a positive PLAG1 rearrangement and a negative HMAG1 rearrangement. WES revealed mutations in BAX, RB1, USP48, SDHB, COL17A1, COL6A6, PIK3CG, PIK3C2B, POLE, and APOBEC3G, suggesting these as potential driver genes in lacrimal gland ductal carcinoma. The patient remained alive at the time of this report.

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Research progress on the pathogenesis of the SDHB mutation and related diseases

Cited by 4 publications

References 151 publications

Diagnostic potential of SDHB mRNA contained in serum extracellular vesicles among patients with prostate cancer

Diagnostic potential of SDHB mRNA contained in serum extracellular vesicles among patients with prostate cancer

SDHB-Associated Pheochromocytomas: What is Their Clinical Behavior?

A Case of Lacrimal Gland Ductal Carcinoma: Clinical, Morphological and Genetic Characterization

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