Do juxtaposed compound nevus and neurofibroma with melanocytic differentiation share an identical cell of origin in NF1?

Harder, Anja; Tippmar, Mario; Baschinskij, Sergej; Rancso, Christoph; Janda, Jan; Mairinger, Thomas

doi:10.1684/ejd.2015.2643

Cited by 1 publication

(2 citation statements)

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“…Previously, melanocytic hyperplasia and microscopic nevocytic nests over neurofibroma have been reported 6,7. A juxtaposed nevus over a large neurofibroma in an NF1 patient was reported, but its appearance was lentigo‐like 8. The current case was distinct from the previous cases because the melanocytic nevi were macroscopically and histopathologically apparent and coexisted with GCM/PNF.…”

Section: Discussionmentioning

confidence: 58%

“…Previously, the association of large congenital melanocytic nevi and NF1 was a subject of controversy, but such cases are now regarded as either GCM with PNF or congenital melanocytic nevi with satellitosis 2. There have been some reports of melanocytic hyperplasia over neurofibroma, but visible melanocytic nevi have not been reported 6‐8…”

Section: Introductionmentioning

confidence: 99%

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Genetic analyses of mosaic neurofibromatosis type 1 with giant café‐au‐lait macule, plexiform neurofibroma and multiple melanocytic nevi

Hida

Idogawa

Okura

et al. 2020

The Journal of Dermatology

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Neurofibromatosis type 1 (NF1) is a genodermatosis caused by heterozygous germ line variations in the NF1 gene. A second-hit NF1 aberration results in the formation of caf e-au-lait macules, cutaneous neurofibroma and plexiform neurofibroma (PNF). Mosaic NF1 (mNF1), caused by a postzygotic NF1 mutation, is characterized by localized or generalized NF1-related manifestations. Although NF1 and mNF1 are associated with pigmentary skin lesions, clinically recognizable melanocytic nevi that developed over PNF have not been reported. Here, we report the first case of multiple melanocytic nevi that developed on a giant caf e-au-lait macule and PNF. The PNF had biallelic NF1 deletions, a whole deletion of NF1 and a novel intragenic deletion involving exons 25-30. The deletions were not detected in the blood, which resulted in the diagnosis of mNF1. Furthermore, the nevus cells had not only biallelic NF1 deletions but also NRAS Q61R, a common mutation found in congenital melanocytic nevi. These analyses revealed the coexistence of the two different mosaic diseases, mNF1 and congenital melanocytic nevi. For a diagnosis of cases with atypical NF1-like symptoms, genetic analyses using blood and lesional tissues are useful and aid in genetic counseling.

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Section: Discussionmentioning

confidence: 58%

Section: Introductionmentioning

confidence: 99%