Thyroid Gland &lt;sup&gt;18&lt;/sup&gt;F-FDG Uptake in Neurofibromatosis Type 1

Lierop, Zoë Y. G. J. van; Jentjens, Sander; Anten, Monique; Wierts, Roel; Stumpel, Connie; Havekes, Bas; Kroonenburgh, M.J.P.G. van

doi:10.1159/000488706

Cited by 5 publications

(7 citation statements)

References 31 publications

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“…A few reports have concluded that PET/CT screening of NF1 patients would also be useful in detecting lesions other than nervous system tumors. In the analysis of FDG‐PET/CT performed on 69 NF1 patients focusing on thyroid, 4 NF1 patients were diagnosed with multinodular goiter, 2 with benign chronic lymphocytic thyroiditis, 1 with metastasis to the thyroid, and 1 with medullary thyroid cancer; 36 9 lesions other than neurogenic tumors were also found in the present study and 5 were thyroid diseases. It is also noteworthy that 3 of 9 lesions were malignant (1 liposarcoma and 2 GISTs) and required immediate surgical treatment, confirming that NF1 is a tumor predisposing syndrome.…”

Section: Discussionsupporting

confidence: 60%

“…patients focusing on thyroid, 4 NF1 patients were diagnosed with multinodular goiter, 2 with benign chronic lymphocytic thyroiditis, 1 with metastasis to the thyroid, and 1 with medullary thyroid cancer; 36 9 lesions other than neurogenic tumors were also found in the present study and 5 were thyroid diseases. It is also noteworthy that Seventy-five pNFs in 28 patients with NFI were analyzed in a previous report, and the growth rate of pNF correlated significantly positively with SUVmax (P = .003).…”

Section: Discussionsupporting

confidence: 59%

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Limitations and benefits of FDG‐PET/CT in NF1 patients with nerve sheath tumors: A cross‐sectional/longitudinal study

et al. 2021

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The purposes of this study were to re‐confirm the usefulness of PET/CT in the differentiation of benignity/malignancy of neurogenic tumors in NF1 patients, and to analyze the natural course of plexiform neurofibroma (pNF) and clarify whether PET/CT is also useful for detecting tumors other than neurogenic tumors. PET/CT was prospectively imaged in 36 NF1 patients. There were 14 malignant peripheral nerve sheath tumors (MPNSTs) in 14 patients, and 54 pNFs in 30 patients. Nine patients had both MPNST and pNF. Maximal standardized uptake value (SUVmax) was significantly higher in MPNST (median 7.6: range 4.1‐10.4) (P < .001) compared with that of pNF (median 3.7: range 1.6‐9.3). The cut‐off value of 5.8 resulted in a sensitivity of 78.6% and specificity of 88.9%. Median age was 29 y, and median maximum tumor diameter was 82 mm in 14 MPNST patients. The 5‐y overall survival rate was 46.8%. Three patients with low‐grade MPNST were alive without disease at the time of this report. In 9 patients in which pNF and MPNST co‐existed, 2 showed a higher SUVmax of pNF than that of MPNST. Natural history analysis of pNF (n = 43) revealed that no factors significantly correlated with increased tumor size. Nine lesions other than neurogenic tumors were detected by PET/CT including 5 thyroid lesions and 3 malignant neoplasms. This study revealed the usefulness and limitation of PET/CT for NF1 patients. In the future, it will be necessary to study how to detect over time the malignant transformation of pNF to MPNST, via an intermediate tumor.

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Section: Discussionsupporting

confidence: 60%

Section: Discussionsupporting

confidence: 59%

Limitations and benefits of FDG‐PET/CT in NF1 patients with nerve sheath tumors: A cross‐sectional/longitudinal study

et al. 2021

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“…Clinical presentation, notably age at diagnosis, does not seem to differ from the usual presentation. Differentiated thyroid cancer can be found through focal hypermetabolism on 18 FDG PET-CT that is initially performed to distinguish between neurofibromas and malignant peripheral nerve sheath tumors (185,186).…”

Section: Nf1mentioning

confidence: 99%

Phakomatoses and Endocrine Gland Tumors: Noteworthy and (Not so) Rare Associations

Chevalier

Dupuis²,

Jannin

et al. 2021

Front. Endocrinol.

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Phakomatoses encompass a group of rare genetic diseases, such as von Hippel-Lindau syndrome (VHL), neurofibromatosis type 1 (NF1), tuberous sclerosis complex (TSC) and Cowden syndrome (CS). These disorders are due to molecular abnormalities on the RAS-PI3K-Akt-mTOR pathway for NF1, TSC and CS, and to hypoxia sensing for VHL. Phakomatoses share some phenotypic traits such as neurological, ophthalmological and cutaneous features. Patients with these diseases are also predisposed to developing multiple endocrine tissue tumors, e.g., pheochromocytomas/paragangliomas are frequent in VHL and NF1. All forms of phakomatoses except CS may be associated with digestive neuroendocrine tumors. More rarely, thyroid cancer and pituitary or parathyroid adenomas have been reported. These susceptibilities are noteworthy, because their occurrence rate, prognosis and management differ slightly from the sporadic forms. The aim of this review is to summarize current knowledge on endocrine glands tumors associated with VHL, NF1, TSC, and CS, especially neuroendocrine tumors and pheochromocytomas/paragangliomas. We particularly detail recent advances concerning prognosis and management, especially parenchyma-sparing surgery and medical targeted therapies such as mTOR, MEK and HIF-2 α inhibitors, which have shown truly encouraging results.

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“…7,15 Thyroid morphology and function studied in 17 patients with NF-1 showed nodular goiter in 10 patients, and after those 10 patients have undergone thyroidectomy, thyroid cancer was found in 2 cases (11.76%), indicating that thyroid disease may be underestimated in the context of NF-1. 1,11 Although thyroid cancer is rarely reported in the literature, it might be detected incidentally in patients by ultrasonography especially when it is a small nodule, as the case reported by Bu Kyung Kim, which promotes the need for screening in NF-1 patients. 16,17 Precocious puberty was noticed in a 15-year-old boy who also had optic chiasm glioma and was diagnosed at the age of 6 years old.…”

Section: Resultsmentioning

confidence: 99%

Prevalence of Associated Endocrine Diseases in Patients with Neurofibromatosis Type 1

et al. 2022

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Background Neurofibromatosis type 1 (NF-1) is an autosomal dominant neurocutaneous disorder that increases the risk of developing benign and malignant tumors. Several associated endocrine diseases in NF-1 patients have been explained in the literature. Thus, this study aims to assess the endocrine manifestations as there no previous local data have discussed this association. Methods A retrospective cross-sectional study was conducted at KAMC and KASCH, Riyadh, Saudi Arabia by including all patients genetically confirmed with NF1 from 2004 until 2019 using a consecutive non-probability sampling technique. The included data were demographics, consanguinity, genetic variant mutations as well as associated endocrine diseases. Results The prevalence of patients with associated endocrine diseases was estimated to be 19.4%. Short stature showed the highest frequency of associated endocrine diseases followed by subclinical hypothyroidism. Positive consanguinity, sporadic mutation, and pathogenic variant showed high frequencies. Conclusion The coexistence of endocrine diseases was found in NF-1 patients. Therefore, screening for endocrine abnormality in patients with NF-1 by comprehensive history and physical exam as well as investigations to minimize complications and the late presentation should be considered; however, further studies are necessary to address the need.

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Thyroid Gland <sup>18</sup>F-FDG Uptake in Neurofibromatosis Type 1

Cited by 5 publications

References 31 publications

Limitations and benefits of FDG‐PET/CT in NF1 patients with nerve sheath tumors: A cross‐sectional/longitudinal study

Limitations and benefits of FDG‐PET/CT in NF1 patients with nerve sheath tumors: A cross‐sectional/longitudinal study

Phakomatoses and Endocrine Gland Tumors: Noteworthy and (Not so) Rare Associations

Prevalence of Associated Endocrine Diseases in Patients with Neurofibromatosis Type 1

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