Multiple Endocrine Neoplasia: Spectrum of Abdominal Manifestations

Davila, Anthony; Menias, Christine O.; Alhalabi, Kinan; Lall, Chandana; Pickhardt, Perry J.; Lubner, Meghan G.; Elsayes, Khaled M.

doi:10.2214/ajr.19.22542

Cited by 7 publications

(7 citation statements)

References 80 publications

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“…Combined Ga-68 PET/CT scans have shown sensitivities and specificity of 93% and 96%, respectively [8] . This modality has also shown to be more sensitive for well-differentiated NET than 111 In octreotide scintigraphy [9] . Another major benefit to SSR imaging is its utility in determining patient candidacy for peptide receptor radionuclide therapy [7] .…”

Section: Discussionmentioning

confidence: 99%

Ga-68 DOTATATE PET/CT in a patient with Zollinger-Ellison syndrome

Jayasekera

Sartin

Bhargava

2023

Radiology Case Reports

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Section: Discussionmentioning

confidence: 99%

Ga-68 DOTATATE PET/CT in a patient with Zollinger-Ellison syndrome

Jayasekera

Sartin

Bhargava

2023

Radiology Case Reports

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“…Somatostatinomas are caused by autonomous hypersecretion of somatostatin. They are very rare tumors, with an incidence of 1 in 40 million, and almost 7% are associated with MEN1 [ 42 ]. Clinical presentation includes hyperglycemia, weight loss, anemia, and diarrhea, as well as cholelithiasis and obstructive symptoms due to their large size [ 43 ].…”

Section: Pancreatic Nets In Men1mentioning

confidence: 99%

Hereditary Syndromes Associated with Pancreatic and Lung Neuroendocrine Tumors

Papadopoulou-Marketou,

Tsoli,

Chatzellis

et al. 2024

Cancers

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Pancreatic neuroendocrine tumors (PanNETs) and lung NETs (LNETs) represent a rare but clinically significant subgroup of neoplasms. While the majority is sporadic, approximately 17% of PanNETs and a subset of LNETs develop in the context of monogenic familial tumor syndromes, especially multiple endocrine neoplasia type 1 (MEN1) syndrome. Other inherited syndromes associated with PanNETs include MEN4, von Hippel–Lindau (VHL) syndrome, neurofibromatosis type 1 (NF1), and tuberous sclerosis complex (TSC). These syndromes are highly penetrant and their clinical manifestations may vary even among members of the same family. They are attributed to genetic mutations involving key molecular pathways regulating cell growth, differentiation, and angiogenesis. Pancreatic NETs in hereditary syndromes are often multiple, develop at a younger age compared to sporadic tumors, and are associated with endocrine and nonendocrine tumors derived from multiple organs. Lung NETs are not as common as PanNETs and are mostly encountered in MEN1 syndrome and include typical and atypical lung carcinoids. Early detection of PanNETs and LNETs related to inherited syndromes is crucial, and specific follow-up protocols need to be employed to optimize diagnosis and management. Genetic screening is recommended in childhood, and diagnostic screening starts often in adolescence, even in asymptomatic mutation carriers. Optimal management and therapeutic decisions should be made in the context of a multidisciplinary team in specialized centers, whereas specific biomarkers aiming to identify patients denoted to follow a more aggressive course need to be developed.

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“…Multiple endocrine neoplasia type 1 syndrome patients present with features of hyperparathyroidism, osteitis fibrosa cystica, and hypercalcemia, leading to constipation, polydipsia, polyuria, or nephrolithiasis (related to the parathyroid tumor); hypergastrinemia from GI gastrinomas causing multiple duodenal/gastric peptic ulcers (Zollinger-Ellison syndrome); and features of pituitary adenoma. 18,19 Multiple endocrine neoplasia type 2 syndrome is characterized by medullary thyroid carcinoma (>90% in MEN-2A and MEN-2B), hyperparathyroidism (only MEN-2A), mucosal ganglioneuromas, and marfanoid habitus (only MEN-2B). Von Hippel-Lindau features include retinal (von Hippel) and cerebellar (Lindau) hemangioblastomas, renal tumors (renal cell carcinomas), pancreatic cysts, pancreatic neuroendocrine tumors (pNENs), and tumors of the reproductive tract.…”

Section: Hereditary Gep Nensmentioning

confidence: 99%

“…Type 2 PGL is not associated with PCC and typically presents as head and neck PGLs. 19 Extra-adrenal PGLs are generally more aggressive than (adrenal) PCCs and present with metastasis in up to 70% of cases. Paraganglioma type 4 has the highest risk of malignancy.…”

Section: Hereditary Gu Nensmentioning

confidence: 99%

See 1 more Smart Citation

Imaging Update for Hereditary Abdominopelvic Neuroendocrine Neoplasms

Ferreira Dalla Pria,

Sharbidre,

Virarkar

et al. 2023

J Comput Assist Tomogr

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Neuroendocrine neoplasms have shown a linear increase in incidence and prevalence in recent decades, primarily due to improved cross-sectional imaging, expanded use of endoscopic procedures, and advanced genetic analysis. However, diagnosis of hereditary neuroendocrine tumors is still challenging because of heterogeneity in their presentation, the variety of tumor locations, and multiple associated syndromes. Radiologists should be familiar with the spectrum of these tumors and associated hereditary syndromes. Furthermore, as the assessment of multiple tumor elements such as morphology, biochemical markers, and presence of metastatic disease are essential for the treatment plan, conventional anatomic and functional imaging methods are fundamental in managing and surveilling these cases. Our article illustrates the role of different cross-sectional imaging modalities in diagnosing and managing various hereditary abdominopelvic neuroendocrine tumors.

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Multiple Endocrine Neoplasia: Spectrum of Abdominal Manifestations

Cited by 7 publications

References 80 publications

Ga-68 DOTATATE PET/CT in a patient with Zollinger-Ellison syndrome

Ga-68 DOTATATE PET/CT in a patient with Zollinger-Ellison syndrome

Hereditary Syndromes Associated with Pancreatic and Lung Neuroendocrine Tumors

Imaging Update for Hereditary Abdominopelvic Neuroendocrine Neoplasms

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