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Combination of Congenital and Deep Penetrating Nevus by Acquisition of β-Catenin Activation.
Am J Dermatopathol. 2020 Jun 17 [Online ahead of print]AJ

Abstract

Deep penetrating nevus (DPN) is an intradermal, sometimes compound benign melanocytic lesion, which involves the reticular dermis, occasionally reaching the subcutis, which can raise concern for melanoma both clinically and histologically. Recently, it has been genetically defined by the combination of MAPK activating and β-catenin activating mutations. We sought to investigate genetic alterations in 2 cases of combined nevi of congenital melanocytic and DPN. Case 1 was a 16-year-old woman with a pigmented lesion on the trunk since birth, which was completely excised. Histopathological examination revealed a combined congenital nevus with a DPN. Comparative genomic hybridization showed no major genetic alterations, except for gain of 6q11.1 and point mutation of B-RAF V600E. Case 2 was a 62-year-old woman with a congenital pigmented lesion on the back. The lesion was diagnosed as a combined nevus of congenital and DPN. Comparative genomic hybridization showed no genetic alterations, and the NRAS Q61K was detected in both components. DPN is in most cases part of a combined nevus. Our cases showed strong and uniform nuclear expression of β-catenin and cyclin D1 in the DPN component suggesting the evolution of the congenital nevus to the DPN clone by acquiring β-catenin activating mutation.

Authors+Show Affiliations

Department of Pathology, Hospital Universitario 12 de Octubre, Universidad Complutense, Instituto de Investigación I+12, Madrid, Spain.Department of Pathology, Hospital Universitario Puerta de Hierro, Madrid, Spain.Department of Pathology, Hospital Universitario Ramón y Cajal, Madrid, Spain.Department of Pathology, Hospital Santa Caterina, Girona, Spain.Department of Pathology, Hospital Universitario 12 de Octubre, Universidad Complutense, Instituto de Investigación I+12, Madrid, Spain.Department of Pathology, Hospital Universitario 12 de Octubre, Universidad Complutense, Instituto de Investigación I+12, Madrid, Spain.Department of Dermatology, Fundación Jimenez-Diaz, Madrid, Spain.

Pub Type(s)

Journal Article

Language

eng

PubMed ID

32568834

Citation

Garrido, Maria C., et al. "Combination of Congenital and Deep Penetrating Nevus By Acquisition of β-Catenin Activation." The American Journal of Dermatopathology, 2020.
Garrido MC, Nájera L, Navarro A, et al. Combination of Congenital and Deep Penetrating Nevus by Acquisition of β-Catenin Activation. Am J Dermatopathol. 2020.
Garrido, M. C., Nájera, L., Navarro, A., Huerta, V., Garrido, E., Rodriguez-Peralto, J. L., & Requena, L. (2020). Combination of Congenital and Deep Penetrating Nevus by Acquisition of β-Catenin Activation. The American Journal of Dermatopathology. https://doi.org/10.1097/DAD.0000000000001704
Garrido MC, et al. Combination of Congenital and Deep Penetrating Nevus By Acquisition of β-Catenin Activation. Am J Dermatopathol. 2020 Jun 17; PubMed PMID: 32568834.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Combination of Congenital and Deep Penetrating Nevus by Acquisition of β-Catenin Activation. AU - Garrido,Maria C, AU - Nájera,Laura, AU - Navarro,Antonia, AU - Huerta,Victoria, AU - Garrido,Enrique, AU - Rodriguez-Peralto,Jose-Luis, AU - Requena,Luis, Y1 - 2020/06/17/ PY - 2020/6/23/entrez PY - 2020/6/23/pubmed PY - 2020/6/23/medline JF - The American Journal of dermatopathology JO - Am J Dermatopathol N2 - Deep penetrating nevus (DPN) is an intradermal, sometimes compound benign melanocytic lesion, which involves the reticular dermis, occasionally reaching the subcutis, which can raise concern for melanoma both clinically and histologically. Recently, it has been genetically defined by the combination of MAPK activating and β-catenin activating mutations. We sought to investigate genetic alterations in 2 cases of combined nevi of congenital melanocytic and DPN. Case 1 was a 16-year-old woman with a pigmented lesion on the trunk since birth, which was completely excised. Histopathological examination revealed a combined congenital nevus with a DPN. Comparative genomic hybridization showed no major genetic alterations, except for gain of 6q11.1 and point mutation of B-RAF V600E. Case 2 was a 62-year-old woman with a congenital pigmented lesion on the back. The lesion was diagnosed as a combined nevus of congenital and DPN. Comparative genomic hybridization showed no genetic alterations, and the NRAS Q61K was detected in both components. DPN is in most cases part of a combined nevus. Our cases showed strong and uniform nuclear expression of β-catenin and cyclin D1 in the DPN component suggesting the evolution of the congenital nevus to the DPN clone by acquiring β-catenin activating mutation. SN - 1533-0311 UR - https://www.unboundmedicine.com/medline/citation/32568834/Combination_of_Congenital_and_Deep_Penetrating_Nevus_by_Acquisition_of_β-Catenin_Activation L2 - https://doi.org/10.1097/DAD.0000000000001704 DB - PRIME DP - Unbound Medicine ER -