Case Series: Variants in Four Patients with Metastatic Pheochromocytoma.

Few reports have highlighted the rare presence of somatic variants in clinically aggressive, metastatic pheochromocytoma/paraganglioma (PCC/PGL); however, none have addressed detailed clinical presentation (including biochemistry and imaging) and management of these patients. Here, we address these clinical features and management based on four PCC patients with somatic variants from our National Institutes of Health PCC/PGL cohort. A total of 192 patients underwent exome sequencing (germline, somatic, or both), and four males were found to have somatic variants (with additional somatic and oncogenic variants in patients 2 and 4, respectively).

Diagnostic performance of [Ga]DOTATATE PET/CT, [F]FDG PET/CT, MRI of the spine, and whole-body diagnostic CT and MRI in the detection of spinal bone metastases associated with pheochromocytoma and paraganglioma.

Objective: To compare the diagnostic performance of [Ga]DOTATATE PET/CT, [F]FDG PET/CT, MRI of the spine, and whole-body CT and MRI for the detection of pheochromocytoma/paraganglioma (PPGL)-related spinal bone metastases.

Materials And Methods: Between 2014 and 2020, PPGL participants with spinal bone metastases prospectively underwent [Ga]DOTATATE PET/CT, [F]FDG PET/CT, MRI of the cervical-thoracolumbar spine (MRI), contrast-enhanced MRI of the neck and thoraco-abdominopelvic regions (MRI), and contrast-enhanced CT of the neck and thoraco-abdominopelvic regions (CT). Per-patient and per-lesion detection rates were calculated.

Paediatric phaeochromocytoma and paraganglioma: A clinical update.

Paediatric phaeochromocytomas and paragangliomas (PPGLs), though rare tumours, are associated with significant disability and death in the most vulnerable of patients early in their lives. However, unlike cryptogenic and insidious disease states, the clinical presentation of paediatric patients with PPGLs can be rather overt, allowing early diagnosis, granted that salient findings are recognized. Additionally, with prompt and effective intervention, prognosis is favourable if timely intervention is implemented.

Pulmonary function and structure abnormalities in children and young adults with osteogenesis imperfecta point to intrinsic and extrinsic lung abnormalities.

Purpose: Pulmonary disease is the major cause of morbidity and mortality in osteogenesis imperfecta (OI). We investigated the contribution of intrinsic lung factors to impaired pulmonary function in children and young adults with OI types III, IV, VI.

Methods: Patients with type III (n=8), IV (n=21), VI (n=5), VII (n=2) or XIV (n=1) OI (mean age 23.

PD-L1 expression and association with genetic background in pheochromocytoma and paraganglioma.

Metastatic pheochromocytomas and paragangliomas (PPGLs) are rare neuroendocrine tumors associated with poor prognosis and limited therapeutic options. Recent advances in oncology-related immunotherapy, specifically in targeting of programmed cell death-1 (PD-1)/programmed death-ligand 1 (PD-L1) pathways, have identified a new treatment potential in a variety of tumors, including advanced and rare tumors. Only a fraction of patients being treated by immune checkpoint inhibitors have shown to benefit from it, displaying a need for strategies which identify patients who may most likely show a favorable response.

Immune signature of pheochromocytoma and paraganglioma in context of neuroendocrine neoplasms associated with prognosis.

Purpose: To understand prognostic immune cell infiltration signatures in neuroendocrine neoplasms (NENs), particularly pheochromocytoma and paraganglioma (PCPG), we analyzed tumor transcriptomic data from The Cancer Genome Atlas (TCGA) and other published tumor transcriptomic data of NENs.

Methods: We used CIBERSORT to infer immune cell infiltrations from bulk tumor transcriptomic data from PCPGs, in comparison to gastroenteropancreatic neuroendocrine tumors (GEPNETs) and small cell lung carcinomas (SCLCs). PCPG immune signature was validated with NanoString immune panel in an independent cohort.

Recurrent Disease in Patients With Sporadic Pheochromocytoma and Paraganglioma.

Context: Long-term follow-up has been recommended for patients with pheochromocytoma or paraganglioma (PPGL) due to potential for recurrent disease. However, the need to follow patients with sporadic PPGL has recently become controversial.

Objective: To investigate the prevalence of recurrence among patients with sporadic compared with hereditary PPGL and to identify predictors of recurrence for sporadic disease.

Performances of Functional and Anatomic Imaging Modalities in Related Metastatic Pheochromocytoma and Paraganglioma.

The study identifies the importance of positron emission tomographic (PET) and anatomic imaging modalities and their individual performances in detecting succinate dehydrogenase A (-related metastatic pheochromocytoma and paraganglioma (PPGL). The detection rates of PET modalities-Ga-DOTATATE, F-FDG, and F-FDOPA-along with the combination of computed tomography (CT) and magnetic resonance imaging (MRI) are compared in a cohort of 11 patients with metastatic PPGL in the setting of a germline mutation. The imaging detection performances were evaluated at three levels: overall lesions, anatomic regions, and a patient-by-patient basis.

Supportive management of patients with pheochromocytoma/paraganglioma undergoing noninvasive treatment.

Purpose Of Review: Many publications review perioperative management of pheochromocytomas/paragangliomas (PPGLs); however, a large population, including 10-20% of metastatic PPGL patients, have inoperable disease. This has necessitated the development of noninvasive treatments (e.g.

A long noncoding RNA-microRNA expression signature predicts metastatic signature in pheochromocytomas and paragangliomas.

Purpose: In hopes of discovering new markers for metastatic or aggressive phenotypes of pheochromocytomas and paragangliomas (PCPG), we analyzed the noncoding transcriptome from patient gene expression data in The Cancer Genome Atlas.

Methods: Differential expression of miRNAs was observed between PCPG molecular subtypes. We specifically characterized candidate miRNAs that are upregulated in pseudohypoxic PCPGs with mutations in succinate dehydrogenase complex subunits, B and/or D (SDHB and/or SDHD, respectively), which are mutations associated with unfavorable clinical outcomes.

Osteogenesis Imperfecta: The Impact of Genotype and Clinical Phenotype on Adiposity and Resting Energy Expenditure.

Context: Mutations in type I collagen or collagen-related proteins cause osteogenesis imperfecta (OI). Energy expenditure and body composition in OI could reflect reduced mobility or intrinsic defects in osteoblast differentiation increasing adipocyte development.

Objective: This study compares adiposity and resting energy expenditure (REE) in OI and healthy controls (HC), for OI genotype- and Type-associated differences.

Sporadic Primary Pheochromocytoma: A Prospective Intraindividual Comparison of Six Imaging Tests (CT, MRI, and PET/CT Using Ga-DOTATATE, FDG, F-FDOPA, and F-FDA).

. Recent professional society guidelines for radionuclide imaging of sporadic pheochromocytoma (PHEO) recommend F-fluorodihydroxyphenylala-nine (F-FDOPA) as the radiotracer of choice, deeming Ga-DOTATATE and FDG to be second- and third-line agents, respectively. An additional agent, F-fluorodopamine (F-FDA), remains experimental for PHEO detection.