Schwannomatosis on a Single Foot

Min, Hak-Jin; Kim, Ki Chun; Jun, Sung Han; Lee, Young Gun

doi:10.1177/1938640014565047

Cited by 5 publications

(2 citation statements)

References 12 publications

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“…1). Regarding the level of evidence, the nine case reports [8][9][10][11][12][13][14][15][16] were categorized as level 4, and the six case series were categorized as level 3, 3,4,17 4, 18 or 5. 19,20 Thirty-eight individuals met the inclusion criteria for sporadic schwannomatosis (►Table 2).…”

Section: Resultsmentioning

confidence: 99%

Sporadic Schwannomatosis: A Systematic Review Following the 2005 Consensus Statement

Chick

Victor

Poujade

et al. 2018

J Neurol Surg A Cent Eur Neurosurg

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This systematic review quantified the number of individuals who meet the criteria for sporadic schwannomatosis and better described this population to facilitate the classification of neurofibromatosis in regard to the 2005 consensus statement. Unilateral or segmental distribution of nerve tumors are key aspects when dealing with multiple noncutaneous schwannomas without involvement of the vestibular nerve.

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Section: Resultsmentioning

confidence: 99%

Sporadic Schwannomatosis: A Systematic Review Following the 2005 Consensus Statement

Chick

Victor

Poujade

et al. 2018

J Neurol Surg A Cent Eur Neurosurg

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“… 2 , 3 It can involve any nerve of the foot and ankle. 1 , 4 , 5 , 6 , 7 , 8 , 9 , 10 , 11 , 12 , 13 , 14 , 15 , 16 These tumors are usually asymptomatic unless an increase in size or disruption of the nerve causes pain. 6 , 9 The symptoms of neurilemmoma on the foot and ankle are mainly related to pressure effects on the associated nerve (weakness and paresthesia) or pressure areas (e.g., at the sole).…”

mentioning

confidence: 99%

Endoscopic En-Bloc Resection of Neurilemmoma of the Foot Dorsum

Choi,

Lui

2023

Arthroscopy Techniques

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Clinical characteristics and genetic testing outcome of suspected hereditary peripheral nerve sheath tumours in a tertiary cancer institution in Singapore

Loh

Ong

Goh

et al. 2022

Hered Cancer Clin Pract

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Background Peripheral Nerve Sheath Tumors (PNST) are a diverse group of mostly benign tumours uncommon in the general population. About 5–10% of PNSTs are hereditary, predominantly arising from germline variants in NF1, NF2, SMARCB1, or LZTR1 gene. Methods We reviewed the clinical characteristics and genetic testing results of patients referred to the NCIS Adult Cancer Genetics Clinic for suspected hereditary PNST. Results 3,001 patients suspected to have various hereditary cancer syndromes were evaluated between year 2000 to March 2021. 13 (0.4%) were clinically diagnosed to have hereditary PNSTs. The majority were male (54%), with a median age at presentation to the genetics clinic of 29 years (range 19–48). 11/13 (85%) patients had multiple PNSTs, 12/13 (92%) had young onset PNSTs, 5/13 (38.5%) had personal and family history of PNST. 11/13 patients (85%) had clinical features of neurofibromatosis type 1 (NF1) including one patient who also fulfilled clinical criteria of neurofibromatosis type 2 (NF2); 2/13 (14%) had multiple schwannomas. Four patients underwent multi-gene panel testing, including one patient with clinical NF1, one patient who met both clinical NF1 and NF2 criteria, and two patients with multiple schwannomas. The patient with clinical features of NF1 was heterozygous for a pathogenic c. 2033dup variant in the NF1 gene. The patient with both NF1/NF2 features was heterozygous for a novel c.732 T > A nonsense variant in the NF2 gene. The two patients with multiple schwannomas were heterozygous for a pathogenic/likely pathogenic variant in the LZTR1 gene and are the first LZTR1-positive schwannomatosis patients reported in Asia. Conclusion Hereditary PNSTs are rare referrals to an adult cancer genetics clinic. NF1 is the most common PNST seen. LZTR1 variants may be the underlying cause in Asian patients with multiple schwannomatosis.

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Schwannomatosis on a Single Foot

Abstract: Case report, Level IV.

Cited by 5 publications

References 12 publications

Sporadic Schwannomatosis: A Systematic Review Following the 2005 Consensus Statement

Sporadic Schwannomatosis: A Systematic Review Following the 2005 Consensus Statement

Endoscopic En-Bloc Resection of Neurilemmoma of the Foot Dorsum

Clinical characteristics and genetic testing outcome of suspected hereditary peripheral nerve sheath tumours in a tertiary cancer institution in Singapore

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