A study of geno-pheno associations in PGL identified possible factors that affect tumor risk.

Evaluating Patterns of SDHx Tumor Presentation by Gene and Variant Type: A Retrospective Analysis of a Large Clinical Cohort

Malignant carotid body tumors (MCBT) are rare and diagnosed after detection of nodal or distant metastases. This systematic review (SR) focuses on MCBT initially approached by surgery. Preferred Reporting Items for SR and Meta-Analysis (MA) guided the articles search from 2000 to 2023 on PubMed, Scopus, and Web of Science. Among 3548 papers, 132 (337 patients) were considered for SR; of these, 20 (158 patients) for MA. Malignancy rate was 7.3%, succinate dehydrogenase (SDH) mutation 17%, age at diagnosis between 4th and 6th decades, with a higher prevalence of females. MCBTs were mostly Shamblin III, with nodal and distant metastasis in 79.7% and 44.7%, respectively. Malignancy should be suspected if CBT >4 cm, Shamblin III, painful or otherwise symptomatic, at the extremes of age, bilateral, with multifocal disease, and SDHx mutations. Levels II-III clearance should be performed to exclude nodal metastases and adjuvant treatments considered on a case-by-case basis.

Malignant carotid body tumors: What we know, what we do, and what we need to achieve. A systematic review of the literature.

Carotid body paraganglioma is a rare neuroendocrine tumor presenting with low-grade histological and clinical features. However, the tumor has the potential to produce distant metastasis, and due to its rarity, little information is available regarding chemotherapy for such metastatic lesions. Here, we report a case of carotid body paraganglioma with development of pulmonary and bone metastases 10 years after radical surgery for the primary lesion in the neck. The lesions showed a good response to cyclophosphamide, vincristine, and dacarbazine chemotherapy. A beneficial therapeutic outcome by chemotherapy is extremely rare in patients with metastatic carotid body paraganglioma.

Successful Response to Cyclophosphamide, Vincristine, and Dacarbazine Chemotherapy in a Patient with Metastatic Carotid Body Paraganglioma.

Objective Patients with SDHx germline mutations (SDH A, AF2, B, C, D) are at risk for paragangliomas (PGLs), renal cell carcinoma, and gastrointestinal stromal tumors. The aim of this study was to evaluate age of SDHx tumor diagnosis in those with pathogenic variants (PVs), notably tumor detection after the age of 50 years. Study design Longitudinal retrospective observational analysis PATIENTS: Individuals with SDHx PVs MEASUREMENTS: Demographic, clinical, genetic, screening, and tumor detection and treatment data was abstracted from the electronic medical record. Descriptive analysis was utilized. Results A total of 165 patients with SDHx PVs from 34 families were evaluated. Sixty-eight patients (41.2%) had at least one known SDHx related tumor in their history, identified through symptoms, screening, or incidentally. The average age of SDHx related tumor diagnosis was 32.0 years. Age of diagnosis varied by gene. Nine patients (n=50; 18.0%) were identified with a tumor after the age of 50, identified via baseline screening after PV identification, or due to symptoms prior to molecular SDHx diagnosis. Conclusions Though tumors were identified in individuals above the age of 50, they were all identified on baseline screening or due to symptoms, confirming baseline screening is essential. Given the slow growing nature of PGLs, these tumors might have been discovered prior to age 50 if molecular diagnosis and baseline screening had occurred earlier. Considering discontinuing screening after age 50 may be warranted if baseline screen imaging is negative and the individual does not have a prior tumor history. This article is protected by copyright. All rights reserved.

Paraganglioma and other tumor detection rates in individuals with SDHx pathogenic variants by age of diagnosis and after the age of 50.

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Paraganglioma and other tumor detection rates in individuals with SDHx pathogenic variants by age of diagnosis and after the age of 50.