Mosaic Generalized Neurofibromatosis 1: Report of Two Cases

Hardin, Jori; A, Behm; Haber, Richard M.

doi:10.2310/7750.2013.13116

Cited by 8 publications

(4 citation statements)

References 17 publications

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“…Mutations occurring later in development during embryogenesis may affect fewer cell types or specific tissues. The proband's children might have a risk of classic NF1 if the affected individuals display gonosomal mosaicism (Hardin et al, 2014;Garcia-Romero et al, 2016). However, there was no molecular proof revealing the proband to be an NF1 gonosomal mosaic because the proband refused to provide his semen.…”

Section: Discussionmentioning

confidence: 99%

Molecular Diagnosis of Neurofibromatosis by Multigene Panel Testing

Zhang

Wu²,

Cai³

et al. 2021

Front. Genet.

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Neurofibromatosis (NF) is an autosomal genetic disorder for which early and definite clinical diagnoses are difficult. To identify the diagnosis, five affected probands with suspected NF from unrelated families were included in this study. Molecular analysis was performed using multigene panel testing and Sanger sequencing. Ultradeep sequencing was used to analyze the mutation rate in the tissues from the proband with mosaic mutations. Three different pathogenic variants of the NF1 gene were found in three probands who mainly complained of café-au-lait macules (CALMs), including one frameshift variant c.5072_5073insTATAACTGTAACTCCTGGGTCAGGGAGTACACCAA:p.Tyr1692Ilefs in exon 37, one missense variant c.3826C > T:p.Arg1276Ter in exon 28, and one splicing variant c.4110 + 1G > T at the first base downstream of the 3′-end of exon 30. One NF1 gene mosaic variant was found in a proband who complained of cutaneous neurofibroma with the frameshift variant c.495_498del:p.Thr165fs in exon 5, and ultradeep sequencing showed the highest mutation rate of 10.81% in cutaneous neurofibromas. A frameshift variant, c.36_39del:p.Ser12fs in exon 1 of the NF2 gene, was found in a proband who presented with skin plaques and intracranial neurogenic tumors. All of these pathogenic variants were heterozygous, one was not reported, and one not in Chinese before. This study expands the pathogenic variant spectrum of NF and demonstrates the clinical diagnosis.

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Section: Discussionmentioning

confidence: 99%

Molecular Diagnosis of Neurofibromatosis by Multigene Panel Testing

Zhang

Wu²,

Cai³

et al. 2021

Front. Genet.

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“…reported that SN should not be regarded as a distinct entity from neurofibromatosis I. [4] They believe cases previously referred to as unilateral or bilateral SN are now best referred to as mosaic generalized or mosaic localized neurofibromatosis. [3]…”

Section: Discussionmentioning

confidence: 99%

Segmental neurofibromatosis with deep schwannoma

Smith

Buhalog

Fiala

2016

Indian Dermatol Online J

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An elderly patient presented with two clusters of asymptomatic fleshy and pedunculated papules. Biopsy of the papules was consistent with neurofibromas. Decades prior she had undergone a surgery for the excision of a large schwannoma. Given her lack of other neurofibromatosis findings, the patient was diagnosed with multisegmental neurofibromatosis (multi-SN) with deep schwannoma, a possible new phenotype of SN. Because this entity may be associated with internal malignancy, it is important to screen and educate these patients as well as to provide regular follow-up.

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“…Patients typically have neurofibromas and/or café au lait macules in a single unilateral segment of the body. It occurs as the result of a postzygotic mutation in the NF1 gene, causing somatic mosaicism [1][2][3][4][13][14][15][16].…”

Section: A B C Dmentioning

confidence: 99%

“…Segmental neurofibromatosis is a variant of neurofibromatosis 1 [1][2][3][4]. Patients with neurofibromatosis 1 have an increased risk for developing malignancy [5][6][7][8].…”

Section: Introductionmentioning

confidence: 99%

Segmental neurofibromatosis and cancer: report of triple malignancy in a woman with mosaic Neurofibromatosis 1 and review of neoplasms in segmental neurofibromatosis

Cohen

2016

DOJ

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BackgroundSegmental neurofibromatosis, referred to as mosaic neurofibromatosis 1, patients present with neurofibromas or café au lait macules or both in a unilateral segment of the body. PurposeA woman with segmental neurofibromatosis and triple cancer (renal cell carcinoma, mixed thyroid carcinoma, and lentigo maligna) is described and cancers observed in patients with segmental neurofibromatosis are reviewed. MethodsPubMed was used to search the following terms, separately and in combination: cancer, malignancy, mosaic, neoplasm, neurofibroma, neurofibromatosis, segment, segmental, tumor. ResultsMalignancy (13 cancers) has been observed in 11 segmental neurofibromatosis patients; one patient had three different cancers. The most common neoplasms were of neural crest origin {malignant peripheral nerve sheath tumor (3 patients) and melanoma (3 patients)] and gastrointestinal tract origin [colon (1 patient) and gastric (1 patient)]. Breast cancer, Hodgkin lymphoma, lung cancer, kidney cancer, and thyroid cancer each occurred in one patient. ConclusionsSimilar to patients with von Recklinghausen neurofibromatosis 1, individuals with segmental neurofibromatosis also have a genodermatosis-associated increased risk of developing cancer.

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Mosaic Generalized Neurofibromatosis 1: Report of Two Cases

Cited by 8 publications

References 17 publications

Molecular Diagnosis of Neurofibromatosis by Multigene Panel Testing

Molecular Diagnosis of Neurofibromatosis by Multigene Panel Testing

Segmental neurofibromatosis with deep schwannoma

Segmental neurofibromatosis and cancer: report of triple malignancy in a woman with mosaic Neurofibromatosis 1 and review of neoplasms in segmental neurofibromatosis

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