Bilateral segmental neurofibromatosis with gastric carcinoma

Kajimoto, A.; Oiso, Naoki; Fukai, Kazuyoshi; Ishii, Masamitsu

doi:10.1111/j.1365-2230.2006.02247.x

Cited by 9 publications

(10 citation statements)

References 6 publications

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“…This raises the possibility that individuals with only pigmentary changes have a higher risk of gonadal mosaicism. There is a risk of malignancy associated with the mutation, and there are several reports of patients with malignant tumors associated with MNF1 (30,37,39,55,59,63,65,77,83), although the risk could be expected to be lower than in complete NF1. In the 157 case reports, 11 had a malignancy (7%).…”

Section: Discussionmentioning

confidence: 99%

Mosaic Neurofibromatosis Type 1: A Systematic Review

García-Romero

Parkin

Lara‐Corrales

2015

Pediatric Dermatology

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Confusion is widespread regarding segmental or mosaic neurofibromatosis type 1 (MNF1). Physicians should use the same terms and be aware of its comorbidities and risks. The objective of the current study was to identify and synthesize data for cases of MNF1 published from 1977 to 2012 to better understand its significance and associations. After a literature search in PubMed, we reviewed all available relevant articles and abstracted and synthetized the relevant clinical data about manifestations, associated findings, family history and genetic testing. We identified 111 articles reporting 320 individuals. Most had pigmentary changes or neurofibromas only. Individuals with pigmentary changes alone were identified at a younger age. Seventy-six percent had localized MNF1 restricted to one segment; the remainder had generalized MNF1. Of 157 case reports, 29% had complications associated with NF1. In one large case series, 6.5% had offspring with complete NF1. The terms "segmental" and "type V" neurofibromatosis should be abandoned, and the correct term, mosaic NF1 (MNF1), should be used. All individuals with suspected MNF1 should have a complete physical examination, genetic testing of blood and skin, counseling, and health surveillance.

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Section: Discussionmentioning

confidence: 99%

Mosaic Neurofibromatosis Type 1: A Systematic Review

García-Romero

Parkin

Lara‐Corrales

2015

Pediatric Dermatology

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“…Yalcin et al . speculate that the process is due to tumorigenic factors secreted by the carcinoma, which remain unknown until now …”

Section: Discussionmentioning

confidence: 99%

Bilateral segmental neurofibromatosis

et al. 2013

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“…There have been a few reports of extracutaneous manifestations such as unilateral renal agenesis,18 learning difficulties,19 malignant peripheral nerve sheath tumor,20 Lisch nodules,11 and gastric carcinoma. 21 The two cases reported here represent mosaic general ized NF1 given that they both display generalized but incomplete features of classic NF1. In the first case, there are only neurofibromas, and in the second, there are both pigmentary changes, neurofibromas, and Lisch nodules.…”

Section: Casementioning

confidence: 92%