Sporadic Research Articles

Comparison between interval and sporadic colon cancer in terms of clinicopathologic and molecular features.

205 Background: Interval colon cancer occurs due to either limitations of colonoscopy or rapidly developing new tumors, possibly reflecting molecular and environmental differences in tumorigenesis. This study aimed to compare the clinicopathologic and molecular features of interval colon cancer with those of sporadic colon cancer in Asia. Methods: This prospective, multicenter, cross‐sectional study was conducted from May 2017 to December 2021 at six university hospitals in South Korea. Interval colon cancer was defined as colon cancer diagnosed within 5 years of complete colonoscopy. We compared the clinicopathologic and molecular biological characteristics, including CpG island methylator phenotype (CIMP), KRAS, BRAF, and microsatellite instability (MSI), between patients with interval and sporadic colon cancers. Results: We compared and analyzed 28 patients with interval colon cancer and 72 patients with sporadic cancer. There was no difference in terms of sex, BMI, underlying disease, and family history in the clinical comparison between the interval and sporadic cancer groups. There was no difference in the location, shape, or stage of cancer including metastasis, between the two groups. In molecular biological analysis, CIMP was 5.1% positive for sporadic cancer and 17.9% positive for interval colon cancer, indicating an approximately 13% greater frequency in interval colon cancer (p = .036). KRAR mutation was observed in 36.7% of patients with sporadic cancers and 17.9% of those with interval colon, which was about 18% higher in sporadic cancer, but there was no statistically significant difference (p = .066). There was no difference between MSI and BRAF genotype between the sporadic and interval cancer groups. Conclusions: Unlike the findings of western studies, there was no clinical difference between sporadic and interval colon cancer. In molecular biological comparison, the CIMP positivity rate was significantly higher in patients with interval colon cancer.

Fundic Gland Polyps Lack DNA Content Abnormality Characteristic of Other Adenomatous Precursor Lesions in the Gastrointestinal Tract

Fundic gland polyps (FGPs) develop sporadically (frequently after proton pump inhibitor therapy) or in the setting of a hereditary polyposis syndrome, such as familial adenomatous polyposis (FAP). FAP-related FGPs often demonstrate low-grade dysplasia (LGD) and are frequently associated with APC mutations, even in the absence of dysplasia. Sporadic FGPs with dysplasia are molecularly similar to FAP-related FGPs and demonstrate frequent mutations in APC gene. Despite having similar molecular alterations with colorectal and other adenomatous precursor lesions in the gastrointestinal (GI) tract, FGPs rarely progress to advanced gastric neoplasia (high-grade dysplasia [HGD] or adenocarcinoma), and their role in gastric tumorigenesis remains unclear but likely limited. The clinicopathologic features of 192 patients diagnosed with FGPs, including 86 with FAP-related FGPs (33 with dysplastic FGPs and 53 with nondysplastic FGPs) and 106 with sporadic FGPs (12 with dysplastic FGPs and 94 with nondysplastic FGPs), were analyzed. DNA flow cytometry was performed on 111 FAP-related FGP biopsies, including 32 FGPs with LGD and 79 nondysplastic FGPs, to assess the presence of abnormal DNA content (ie, aneuploidy or elevated 4N fraction). Moreover, 40 sporadic FGP biopsies, including 14 dysplastic (13 LGD and 1 HGD) and 26 nondysplastic FGPs, were examined for DNA content abnormality. Patients with FAP and nondysplastic FGPs were more likely to be younger (mean age, 32 years) and present with multiple FGPs (92%, defined as having ≥2 FGPs) than those with sporadic nondysplastic FGPs (61 years and 65%, respectively; P < .001). They also recorded higher rates of previous or concurrent gastric epithelial dysplasia not occurring in a FGP (8%, P = .016), nongastric GI dysplasia (96%, P < .001), and nongastric GI malignancy (17%, P = .001) compared with those with sporadic nondysplastic FGPs (0%, 52%, and 2%, respectively). The sporadic group was more frequently associated with proton pump inhibitor therapy (78%, P < .001), gastric intestinal metaplasia (24%, P = .004), and a family history of gastric cancer (10%, P = .027) than the FAP group (19%, 6%, and 0%, respectively). Almost all FAP-related FGPs had a polypoid endoscopic appearance (98% vs 84% for sporadic FGPs; P = .009). The mean size of the largest FAP-related FGPs (0.5 cm) was similar to that of sporadic FGPs (0.7 cm) (P = .069). None of the 147 patients with FAP-related or sporadic nondysplastic FGPs were associated with subsequent detection of advanced gastric neoplasia within a mean follow-up time of 54 months (range, <1 to 277 months). However, 2 (4%) of the 45 patients with FAP-related or sporadic dysplastic FGPs developed advanced gastric neoplasia within a mean follow-up time of 59 months (range, <1 to 236 months). One (3%) of the 33 patients with FAP and dysplastic FGPs developed signet ring cell adenocarcinoma, whereas 1 (8%) of the 12 patients with sporadic dysplastic FGPs developed HGD (P = .445). However, none of the FAP-related and sporadic FGP biopsies, regardless of the presence or absence of dysplasia, demonstrated DNA content abnormality. In conclusion, FGPs lack large-scale chromosomal changes that are characteristic of the typical adenoma-carcinoma sequence involved in the development of other GI malignancies. Progression to advanced gastric neoplasia is rare in FGPs, which may be partly explained by the apparent lack of the chromosomal instability phenotype in these lesions.

On the source algebra equivalence class of blocks with cyclic defect groups, I

We investigate the source algebra class of a p-block with cyclic defect groups of the group algebra of a finite group. By the work of Linckelmann this class is parametrized by the Brauer tree of the block together with a sign function on its vertices and an endo-permutation module of a defect group. We prove that this endo-permutation module can be read off from the character table of the group. We also prove that this module is trivial for all cyclic p-blocks of quasisimple groups with a simple quotient which is a sporadic group, an alternating group, a group of Lie type in defining characteristic, or a group of Lie type in cross-characteristic for which the prime p is large enough in a certain sense.

Traumatic Brain Injury Associates with an Earlier Onset in Sporadic Frontotemporal Dementia.

Currently, there are few studies considering possible modifiable risk factors of frontotemporal dementia (FTD). In this retrospective case-control study, we evaluated whether a history of traumatic brain injury (TBI) associates with a diagnosis of FTD or modulates the clinical phenotype or onset age in FTD patients. We compared the prevalence of prior TBI between individuals with FTD (N = 218) and age and sex-matched AD patients (N = 214) or healthy controls (HC; N = 100). Based on the patient records, an individual was categorized to the TBI+ group if they were reported to have suffered from TBI during lifetime. The possible associations of TBI with age of onset and disease duration were also evaluated in the whole FTD patient group or separately in the sporadic and genetic FTD groups. The prevalence of previous TBI was the highest in the FTD group (19.3%) when compared to the AD group (13.1%, p = 0.050) or HC group (12%, p = 0.108, not significant). Preceding TBI was more often associated with the sporadic FTD cases than the C9orf72 repeat expansion-carrying FTD cases (p = 0.003). Furthermore, comparison of the TBI+ and TBI- FTD groups indicated that previous TBI was associated with an earlier onset age in the FTD patients (B = 3.066, p = 0.010). A preceding TBI associates especially with sporadic FTD and with earlier onset of symptoms. The results of this study suggest that TBI may be a triggering factor for the neurodegenerative processes in FTD. However, understanding the precise underlying mechanisms still needs further studies.

Zinc Supplementation Improves ZIP14 (SLC39A14) Levels in Cerebral Cortex Suppressed by icv-STZ Injection.

Metabolic dysfunctions are critical in the pathology of Alzheimer's disease. Impaired zinc homeostasis, in particular, is a significant issue in this disease that has yet to be explained. Gene expression of ZIP14 in brain tissue has been previously reported. But to date, only one study has reported reduced ZIP14 levels in aged brain tissue. We investigated how dietary zinc deprivation and supplementation impact ZIP14 levels in the cerebral cortex in rats with sporadic Alzheimer's disease (sAH) produced by intracerebroventricular streptozotocin (icv-STZ). Impaired zinc homeostasis, in particular, is a significant issue with this condition that has yet to be elucidated. Animals were divided into 5 groups in equal numbers (n=8): Sham 1 group: icv received artificial cerebrospinal fluid (aCSF); Sham 2 group: retrieved icv aCSF and intraperitoneal (ip) saline, STZ group: received 3 mg/kg icv-STZ; STZ-Zn-Deficient group: received 3 mg/kg icv-STZ and fed a zinc-deprived diet; STZ-Zn-Supplemented: It received 3 mg/kg icv-STZ and ip zinc sulfate (5 mg/kg/day ZIP 14 levels (ng/L) in cortex tissue samples taken from animals sacrificed under general anesthesia were determined by ELISA at the final stage of the experimental applications. Decreased ZIP14 levels in the sporadic Alzheimer's group were severely by zinc deficiency. Zinc supplementation treated the reduction in ZIP14 levels. The results of the current study show that ZIP14 levels in cerebral cortex tissue, which are suppressed in the experimental rat Alzheimer model and are even more critically reduced in zinc deficiency, can be restored by zinc supplementation.

Algebraic Properties of 𝑷𝑮𝑳𝟐 (ℂ) for Long Exact Fibration Sequence with Sporadic Extensions

A concise formulation is given regarding the constructions of the group 𝑃𝐺𝐿2 (ℂ) with its related algebraic properties with intertwined topological aspects in the long exact fibration sequences as considered over homotopy and higher order homotopy groups with further extension to sporadic groups including the monster group formulations.

ON SOME VERTEX-TRANSITIVE DISTANCE-REGULAR ANTIPODAL COVERS OF COMPLETE GRAPHS

In the present paper, we classify abelian antipodal distance-regular graphs \(\Gamma\) of diameter 3 with the following property: \((*)\) \(\Gamma\) has a transitive group of automorphisms \(\widetilde{G}\) that induces a primitive almost simple permutation group \(\widetilde{G}^{\Sigma}\) on the set \({\Sigma}\) of its antipodal classes. There are several infinite families of (arc-transitive) examples in the case when the permutation rank \({\rm rk}(\widetilde{G}^{\Sigma})\) of \(\widetilde{G}^{\Sigma}\) equals 2 moreover, all such graphs are now known. Here we focus on the case \({\rm rk}(\widetilde{G}^{\Sigma})=3\).Under this condition the socle of \(\widetilde{G}^{\Sigma}\) turns out to be either a sporadic simple group, or an alternating group, or a simple group of exceptional Lie type, or a classical simple group. Earlier, it was shown that the family of non-bipartite graphs \(\Gamma\) with the property \((*)\) such that \(rk(\widetilde{G}^{\Sigma})=3\) and the socle of \(\widetilde{G}^{\Sigma}\) is a sporadic or an alternating group is finite and limited to a small number of potential examples. The present paper is aimed to study the case of classical simple socle for \(\widetilde{G}^{\Sigma}\). We follow a classification scheme that is based on a reduction to minimal quotients of \(\Gamma\) that inherit the property \((*)\). For each given group \(\widetilde{G}^{\Sigma}\) with simple classical socle of degree \(|{\Sigma}|\le 2500\), we determine potential minimal quotients of \(\Gamma\), applying some previously developed techniques for bounding their spectrum and parameters in combination with the classification of primitive rank 3 groups of the corresponding type and associated rank 3 graphs. This allows us to essentially restrict the sets of feasible parameters of \(\Gamma\) in the case of classical socle for \(\widetilde{G}^{\Sigma}\) under condition \(|{\Sigma}|\le 2500.\)

Impact of Crohn's Disease on the Survival of Patients with Small-Bowel Adenocarcinoma in Korea: A Bicenter Cohort Study.

Owing to the low prevalence of small-bowel adenocarcinoma (SBA), data on the impact of Crohn's disease (CD) on the survival of patients with SBA are lacking. Therefore, we investigated this issue in this study. In this bicenter cohort study, patients with histologically confirmed SBA were retrospectively enrolled and classified into two groups: sporadic SBA and CD-associated SBA. Patients with duodenal SBA were excluded. Overall survival, disease-free survival, and factors associated with survival were analyzed. Of 128 patients with SBA, 115 had sporadic SBA and 13 had CD-associated SBA. Ileal involvement and poorly differentiated tumors were more common in the CD-associated SBA group than in the sporadic SBA group (ileal involvement, 53.8% vs 22.6%; poor differentiation, 46.2% vs 14.8%; both p<0.05). In survival analysis, overall survival showed no statistical difference between the sporadic SBA and CD-associated SBA groups (p=0.370). However, when stratified by stage, the adjusted overall survival of the CD-associated SBA group was lower in patients with an advanced disease stage (p=0.029). Disease-free survival showed the same tendency, albeit without clinical significance (p=0.097). CD (hazard ratio [HR], 2.308; p=0.047), older age (≥65 yr) at SBA diagnosis (HR, 2.766; p=0.001), and stage III/IV disease (HR, 3.151; p<0.001) were factors associated with mortality. The overall survival of patients with CD-associated SBA did not differ from that of patients with sporadic SBA. However, as CD is an independent risk factor for mortality, vigilant surveillance in high-risk patients may be crucial.

Shorter disease duration in females with sporadic frontotemporal dementia

AbstractBackgroundPrevious reported sex differences on disease duration (DD) of frontotemporal dementia (FTD) have been inconsistent and lack the comparison between genetic and sporadic FTD. Our aim was to study the difference in disease duration between males and females in genetic and sporadic FTD.MethodMortality data was obtained from 61 deceased patients with genetic FTD (52% male) and 117 deceased patients with sporadic FTD (64% male) from the international FTD cohort previously reported by de Boer et al., 2021. The age at symptom onset (AAO), age at death (AAD) and the DD (defined as the time between age at symptom onset and age at death) were compared between males and females in the genetic and sporadic FTD group using Mann Whitney U tests.ResultGenetic FTD did not show significant sex differences in AAO, AAD and DD (p = 0.3, p = 0.3, p = 0.8 respectively, Figure 1). In sporadic FTD, the AAO and AAD did not significantly differ between males and females (p = 0.8 and p = 0.2 respectively). The DD in the sporadic FTD group was significantly shorter in females (median DD 7.0 years) in comparison to males (median DD 8.0 years, p = 0.01, Figure 2).ConclusionIn this study we show that females with sporadic FTD have a shorter disease duration than males whereas in genetic FTD the disease duration does not differ between sex. These findings suggest the existence of sex‐related differences in the disease course of sporadic FTD. We urge the need for international epidemiological FTD studies to further explore the role of sex in both genetic and sporadic FTD.

On soluble subgroups of sporadic groups

Let G be an almost simple sporadic group and let H be a soluble subgroup of G. In this paper we prove that H ∩ Hx ∩ Hy = 1 for some elements x, y ∈ G, which is equivalent to the bound b(G, H) ⩽ 3 with respect to the base size for the natural action of G on the set of cosets of H. This bound is best possible. In this setting, our main result establishes a strong form of a more general conjecture of Vdovin on the intersection of conjugate soluble subgroups of finite groups. The proof uses a combination of computational and probabilistic methods.

Modular quasi-Hopf algebras and groups with one involution

In a previous paper the authors constructed a class of quasi-Hopf algebras Dω(G,A) associated to a finite group G, generalizing the twisted quantum double construction. We gave necessary and sufficient conditions, cohomological in nature, that the corresponding module category Rep(Dω(G,A)) is a modular tensor category. In the present paper we verify the cohomological conditions for the class of groups G which contain a unique involution, and in this way we obtain an explicit construction of a new class of modular quasi-Hopf algebras. We develop the basic theory for general finite groups G, and also a parallel theory concerned with the question of when Rep(Dω(G,A)) is super-modular rather than modular. We give some explicit examples involving binary polyhedral groups and some sporadic simple groups.

Fusion systems realizing certain Todd modules

Abstract We study a certain family of simple fusion systems over finite 3-groups, ones that involve Todd modules of the Mathieu groups 2 ⁢ M 12 2M_{12} , M 11 M_{11} , and A 6 = O 2 ⁢ ( M 10 ) A_{6}=O^{2}(M_{10}) over F 3 \mathbb{F}_{3} , and show that they are all isomorphic to the 3-fusion systems of almost simple groups. As one consequence, we give new 3-local characterizations of Conway’s sporadic simple groups.

Almost elusive classical groups

Let G be a transitive permutation group acting on a finite set Ω with | Ω | ⩾ 2 . An element of G is said to be a derangement if it has no fixed points on Ω, and by a theorem of Jordan from 1872, G contains such an element. In particular, by a theorem of Fein, Kantor and Schacher, G contains a derangement of prime power order. Nevertheless there exist groups in which there are no derangements of prime order, these groups are called elusive groups. Defining a natural extension of this we say G is almost elusive if it contains a unique conjugacy class of derangements of prime order. In recent work with Burness, we reduced the problem of determining the almost elusive quasiprimitive groups to the almost simple and 2-transitive affine cases. Additionally we classified the primitive almost elusive almost simple groups with socle an alternating group , a sporadic group or a group of Lie type with (twisted) Lie rank equal to 1. In this paper we complete the classification of the primitive almost elusive almost simple classical groups.

On the binary codes of length 552 which admit the simple group Co3 as a transitive permutation group

In this this paper all binary codes of length 552 which admit the sporadic simple group as an imprimitive transitive permutation group are determined. Our aim is to understand the results also by using theoretical arguments and to discuss the combinatorial properties of the codes as well as their relation to some special properties of the Leech lattice group . For all codes (with two exceptions) we obtain the weight enumerators and in many interesting cases the classification of codewords under the action of the group of code automorphisms . The exceptional codes are both self-dual and have minimum weight 12.

Pediatric primary hyperparathyroidism: Surgical pathology and long-term outcomes in sporadic and familial cases

BackgroundPrimary Hyperparathyroidism (PHPT) is rare in pediatric patients. Data regarding surgical outcomes are scarce. MethodsSingle-center retrospective review (1994–2020) of patients ≤21 years undergoing surgery for PHPT. Results66 patients were identified (61% female, 17 ± 3 years). 71% of patients were symptomatic at diagnosis. 32% of patients had known familial syndromes, most commonly MEN-1. 23% of patients without a known mutation had genetic testing, 22% positive. 56% of the total and 19% of the familial cohort underwent focused exploration. Single gland disease was found in 19% of familial vs 85% of sporadic cases, p < 0.00001. Persistence was 9%, all in the sporadic group, p = 0.11. Recurrence was 15%: 38% in the familial vs 2% in the sporadic groups, p=0.0004. Time to recurrence was 59 months (Q1-38, Q3-95), familial 61 vs 124 months sporadic, p=0.001. ConclusionPediatric PHPT is frequently sporadic, although 5% of apparent sporadic cases are secondary to syndromes. Familial cases have higher rates of recurrence, requiring closer follow-up.

Comparison Between Sporadic and Multiple Endocrine Neoplasia Type 1-Associated Insulinoma.

The differences between sporadic and multiple endocrine neoplasia type 1 (MEN-1)-associated insulinoma are not well described. Herein, we compared demographics, neoplasm characteristics, presentation, and survival in patients with sporadic vs MEN-1 insulinomas including benign and malignant disease. A retrospective study identified insulinoma patients. MEN-1 was defined based on genetic testing or clinically in patients with 2 or more primary MEN-1 tumor types. A total of 311 patients were identified: 84% benign and 16% malignant. The incidence of malignancy was similar (18% vs 16%, MEN-1 vs sporadic, p = 0.76). Within malignant patients, the median (interquartile range) age was 33 (25 ,44) years in MEN-1 vs 54 (41, 70) years in sporadic insulinoma (p = 0.04). There was no difference in sex or tumor size between MEN-1 and sporadic malignant insulinoma (p &gt; 0.05). Of the 260 patients with benign insulinoma, 7% had MEN-1 syndrome. MEN-1 patients presented with insulinoma at a younger age: median (interquartile range) age was 38 (24, 49) years vs 52 (43, 65) years (p &lt; 0.01). Resection of benign insulinoma was performed in 78% of the MEN-1 and 94% of the sporadic group (p = 0.03). Resected benign tumors were larger in the MEN-1 group: 2.0 (1.65, 2.45) cm vs 1.5 (1.2, 2.0) cm, respectively (p = 0.03). Concurrent insulinomas were more common in MEN-1 (17% vs 2%; p &lt; 0.01). MEN-1 patients present with insulinoma at younger age and have larger benign pancreatic lesions at the time of resection compared with sporadic neoplasms. Younger patients and those with multifocal pancreatic neuroendocrine tumor in the setting of endogenous hyperinsulinism should be evaluated for MEN-1.

Supersingular conjectures for the Fricke group

A proof is given of several conjectures from a recent paper of Nakaya concerning the supersingular polynomial [Formula: see text] for the Fricke group [Formula: see text], for [Formula: see text]. One of these conjectures gives a formula for the square of [Formula: see text] (mod [Formula: see text]) in terms of a certain resultant, and the other relates the primes [Formula: see text] for which [Formula: see text] splits into linear factors (mod [Formula: see text]) to the orders of certain sporadic simple groups.

Characteristics and distribution of intracranial aneurysms in Autosomal Dominant Polycystic Kidney Disease patients compared to the general population

Autosomal Polycystic Kidney Disease (ADPKD) is the most common genetic condition associated with intracranial aneurysms (IA). The aim of this study is to compare sporadic (SPO) and ADPKD aneurysms in term of distribution and multiplicity. ADPKD-patients with IA from the Geneva @neurIST, the UCAS and the Novosibirsk cohort, and from a review of the literature (2016-2019) were included. ADPKD-patients were compared to SPO-patients from the @neurIST and the UCAS cohort. IA-locations were defined as : internal carotid artery (ICA), middle cerebral artery (MCA), anterior- and posterior communicating artery (Acom and Pcom), pericallosal artery (Peri), posterior circulation (PCir), and other locations (Oth). Binary factors were compared using the Fisher exact test or Mann-Whitney U-test. Continuous variables were compared using a two-tailed non-paired student t-test. The difference in distribution among IA-locations were assessed by Pearson's residuals. 6606 SPO-patients were compared to 841 ADPKD-patients, and 7709 SPO-IA were compared to 1089 ADPKD-IA. 78.9 % of APDK-patients suffered from hypertension and 46.6 % of SPO-patient ( p < 0.001). ADPKD-patients had more multiple IA than SPO patients ( p < 0.001). APKD-IA are diagnosed with smaller diameters than SPO-patients (mean 4.7 mm ± 1.6 ; mean 6.3 mm ± 0.9) without reaching the significant level. ADPDK-IAs were found more along the ICA and the Acom (Pearson's residual > 2). Pcom, Peri and Pcir IAs were more frequent in SPO than in ADPKD-cases (Pearson's residual > 3). No difference was found regarding the frequencies the MCA location. More PCir and Oth IA were observed in the SPO-group. In contrario to SPO-IA, ADPKD-IAs differ from non-PKD-IA in that they are more commonly located in the anterior circulation and in large-caliber arteries. The ADPKD-population more often presents with multiple IAs compared to the SPO-individuals. Because of these particularities, these IA should not be considered as “standard” IA and should receive a specific treatment plan

OPTICAL BIOPSY AND ARTIFICIAL INTELLIGENCE AS A DIAGNOSTIC TOOL OF SMOKERS: A PILOT STUDY

<h3>Objectives</h3> Compare saliva between smoking and nonsmoking patients by Fourier transform infrared (FT-IR) spectroscopy as an optical biopsy technique and associate with data processing methods based on artificial intelligence. It will be possible to investigate biochemical changes at the molecular level and in the future use it for early diagnosis of oral cancer. <h3>Study Design</h3> This study was approved by the research ethics committee and was conducted using FT-IR spectroscopy coupled with and attenuated total reflection accessory. Volunteers were divided into 3 groups; however, only 10 patients were analyzed as a pilot study. In the control group, saliva of volunteers who had never tried tobacco (5 samples) was collected. The smoking group consisted of patients over 40 years old who smoke more than one pack of cigarettes a day (1 sample). The sporadic smoking group included patients who smoke sporadically (4 samples). <h3>Results</h3> In all groups, the structural components DNA, RNA, lipids, proteins, and amide were assessed. The spectra showed different intensities in the respective structural components mentioned above, so that subtle differences could prove that the saliva of smoking patients exhibits differences from saliva of nonsmoking patients. <h3>Conclusions</h3> Optical biopsy and artificial intelligence could be used in the medical field.

Succinate: A Serum Biomarker of SDHB-Mutated Paragangliomas and Pheochromocytomas.

Pheochromocytomas and paragangliomas (PPGL) are rare neuroendocrine tumors that are frequently associated with succinate dehydrogenase (SDH) germline mutations. When mutated, SDH losses its function, thus leading to succinate accumulation. In this study, we evaluated serum succinate levels as a new metabolic biomarker in SDHx-related carriers. Retrospective monocentric study of 88 PPGL patients (43 sporadic, 35 SDHB, 10 SDHA/C/D), 17 tumor-free familial asymptomatic carriers (13 SDHB, 4 SDHC/D), and 60 healthy controls. Clinical, biological, and imaging data were reviewed. Serum succinate levels (n = 280) were quantified by an ultra-performance liquid chromatography coupled to a tandem mass spectrometry method and correlated to SDHx mutational status, disease extension, and other biological biomarkers. Serum succinate levels > 7 μM allowed identification of tumor-free asymptomatic SDHB-mutated cases compared to a healthy control group (100% specificity; 85% sensitivity). At PPGL diagnosis, SDHB-mutated patients had a significantly increased median succinate level (14 μM) compared to sporadic patients (8 μM) (P < 0.01). Metastatic disease extension was correlated to serum succinate levels (r = 0.81). In the SDHB group, patients displaying highest tumor burdens showed significant increased succinate levels compared to the sporadic group (P < 0.0001). In this pilot study, we showed that serum succinate level is an oncometabolic biomarker that should be useful to identify SDHB-related carriers. Succinate levels are also a marker of metabolic tumor burden in patients with a metastatic PPGL and a potential marker of treatment response and follow-up.