Soft Tissue Perineurioma in a Child With Neurofibromatosis Type 1

Al-Adnani, Mudher

doi:10.1177/1093526617689895

Cited by 7 publications

(4 citation statements)

References 14 publications

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“…A total of 3 published case reports exist on perineuriomas associated with NF-1, [12][13][14] citing lesions from the chest wall, lower leg, and breast, respectively. NF-1 is caused by alterations in the NF-1 gene, which is responsible for tumor suppression.…”

Section: Discussionmentioning

confidence: 99%

A Case of Multiple Perineuriomas in the Colon With Underlying Neurofibromatosis Type I

Tsuchiya

Iwaya

et al. 2021

ACG Case Rep J

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A 45-year-old woman was referred to us after a positive fecal occult blood test. Colonoscopy revealed a 20-mm polyp in the transverse colon and a 10-mm polyp in the sigmoid colon. Endoscopic mucosal resection was performed as a diagnostic treatment. Both resected polyps were histologically diagnosed as perineuriomas. She was later found to exhibit multiple café-au-lait spots on the skin and subsequently diagnosed as having neurofibromatosis type I (NF-1). Perineuriomas are rare benign peripheral nerve sheath tumors, with no reports of multiple colonic lesions in a patient with NF-1 to date. NF-1 might be associated with the onset of multiple perineuriomas.

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Section: Discussionmentioning

confidence: 99%

A Case of Multiple Perineuriomas in the Colon With Underlying Neurofibromatosis Type I

Tsuchiya

Iwaya

et al. 2021

ACG Case Rep J

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“…Interestingly, limb undergrowth or hand/foot discrepancy have been reported in 25% of patients with perineuriomas, especially in those with proximal lesions in the lower extremity [ 43 ]. Some patients with NF type 1 and 2 may develop perineuriomas, but it is unknown whether this is a true association [ 44 , 45 , 46 , 47 ].…”

Section: Epidemiology and Clinical Featuresmentioning

confidence: 99%

Diagnosis and Treatment of Peripheral and Cranial Nerve Tumors with Expert Recommendations: An EUropean Network for RAre CANcers (EURACAN) Initiative

Pellerino

Verdijk

Nichelli

et al. 2023

Cancers

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The 2021 WHO classification of the CNS Tumors identifies as “Peripheral nerve sheath tumors” (PNST) some entities with specific clinical and anatomical characteristics, histological and molecular markers, imaging findings, and aggressiveness. The Task Force has reviewed the evidence of diagnostic and therapeutic interventions, which is particularly low due to the rarity, and drawn recommendations accordingly. Tumor diagnosis is primarily based on hematoxylin and eosin-stained sections and immunohistochemistry. Molecular analysis is not essential to establish the histological nature of these tumors, although genetic analyses on DNA extracted from PNST (neurofibromas/schwannomas) is required to diagnose mosaic forms of NF1 and SPS. MRI is the gold-standard to delineate the extension with respect to adjacent structures. Gross-total resection is the first choice, and can be curative in benign lesions; however, the extent of resection must be balanced with preservation of nerve functioning. Radiotherapy can be omitted in benign tumors after complete resection and in NF-related tumors, due to the theoretic risk of secondary malignancies in a tumor-suppressor syndrome. Systemic therapy should be considered in incomplete resected plexiform neurofibromas/MPNSTs. MEK inhibitor selumetinib can be used in NF1 children ≥2 years with inoperable/symptomatic plexiform neurofibromas, while anthracycline-based treatment is the first choice for unresectable/locally advanced/metastatic MPNST. Clinical trials on other MEK1-2 inhibitors alone or in combination with mTOR inhibitors are under investigation in plexiform neurofibromas and MPNST, respectively.

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“…One pediatric patient with both soft tissue perineurioma and NF1 has been reported in the literature. 13 Differential Diagnosis-Perineuriomas should be distinguished from other benign neural neoplasms of the skin and soft tissue. Commonly considered in the differential diagnosis is schwannoma and neurofibroma.…”

Section: Commentmentioning

confidence: 99%

Cutaneous and Subcutaneous Perineuriomas in 2 Pediatric Patients

Lyon¹

2022

Cutis

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Perineuriomas are rare benign peripheral nerve sheath tumors that can present in a variety of locations with varying histologic patterns, most commonly in young to middle-aged adults; they are particularly rare in the pediatric population. Perineuriomas have a distinctive constellation of morphologic, immunohistochemical, and ultrastructural characteristics that allows for distinction from other benign peripheral nerve sheath tumors. We present 2 cases of perineuriomas that arose as cutaneous lesions in children.

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Soft Tissue Perineurioma in a Child With Neurofibromatosis Type 1

Cited by 7 publications

References 14 publications

A Case of Multiple Perineuriomas in the Colon With Underlying Neurofibromatosis Type I

A Case of Multiple Perineuriomas in the Colon With Underlying Neurofibromatosis Type I

Diagnosis and Treatment of Peripheral and Cranial Nerve Tumors with Expert Recommendations: An EUropean Network for RAre CANcers (EURACAN) Initiative

Cutaneous and Subcutaneous Perineuriomas in 2 Pediatric Patients

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