Germline mutations in BAP1 predispose to melanocytic tumors
Common acquired melanocytic nevi are benign neoplasms that are composed of small uniform melanocytes and typically present as flat or slightly elevated, pigmented lesions on the skin. We describe two families with a new autosomal dominant syndrome characterized by multiple skin-colored, elevated mel...
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2011
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| Online Access: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3328403/ |
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pubmed-33284032012-04-17 Germline mutations in BAP1 predispose to melanocytic tumors Wiesner, Thomas Obenauf, Anna C. Murali, Rajmohan Fried, Isabella Griewank, Klaus G. Ulz, Peter Windpassinger, Christian Wackernagel, Werner Loy, Shea Wolf, Ingrid Viale, Agnes Lash, Alex E. Pirun, Mono Socci, Nicholas D. Rütten, Arno Palmedo, Gabriele Abramson, David Offit, Kenneth Ott, Arthur Becker, Jürgen C. Cerroni, Lorenzo Kutzner, Heinz Bastian, Boris C. Speicher, Michael R. Article Common acquired melanocytic nevi are benign neoplasms that are composed of small uniform melanocytes and typically present as flat or slightly elevated, pigmented lesions on the skin. We describe two families with a new autosomal dominant syndrome characterized by multiple skin-colored, elevated melanocytic tumors. In contrast to common acquired nevi, the melanocytic neoplasms in affected family members ranged histopathologically from epithelioid nevi to atypical melanocytic proliferations that showed overlapping features with melanoma. Some affected patients developed uveal or cutaneous melanomas. Segregating with this phenotype, we found inactivating germline mutations of the BAP1 gene. The majority of melanocytic neoplasms lost the remaining wild-type allele of BAP1 by various somatic alterations. In addition, we found BAP1 mutations in a subset of sporadic melanocytic neoplasms showing histologic similarities to the familial tumors. These findings suggest that loss of BAP1 is associated with a clinically and morphologically distinct type of melanocytic neoplasm. 2011-08-28 /pmc/articles/PMC3328403/ /pubmed/21874003 http://dx.doi.org/10.1038/ng.910 Text en Users may view, print, copy, download and text and data- mine the content in such documents, for the purposes of academic research, subject always to the full Conditions of use: http://www.nature.com/authors/editorial_policies/license.html#terms |
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Open Access Journal |
| institution_category |
Foreign Institution |
| institution |
US National Center for Biotechnology Information |
| building |
NCBI PubMed |
| collection |
Online Access |
| language |
English |
| format |
Online |
| author |
Wiesner, Thomas Obenauf, Anna C. Murali, Rajmohan Fried, Isabella Griewank, Klaus G. Ulz, Peter Windpassinger, Christian Wackernagel, Werner Loy, Shea Wolf, Ingrid Viale, Agnes Lash, Alex E. Pirun, Mono Socci, Nicholas D. Rütten, Arno Palmedo, Gabriele Abramson, David Offit, Kenneth Ott, Arthur Becker, Jürgen C. Cerroni, Lorenzo Kutzner, Heinz Bastian, Boris C. Speicher, Michael R. |
| spellingShingle |
Wiesner, Thomas Obenauf, Anna C. Murali, Rajmohan Fried, Isabella Griewank, Klaus G. Ulz, Peter Windpassinger, Christian Wackernagel, Werner Loy, Shea Wolf, Ingrid Viale, Agnes Lash, Alex E. Pirun, Mono Socci, Nicholas D. Rütten, Arno Palmedo, Gabriele Abramson, David Offit, Kenneth Ott, Arthur Becker, Jürgen C. Cerroni, Lorenzo Kutzner, Heinz Bastian, Boris C. Speicher, Michael R. Germline mutations in BAP1 predispose to melanocytic tumors |
| author_facet |
Wiesner, Thomas Obenauf, Anna C. Murali, Rajmohan Fried, Isabella Griewank, Klaus G. Ulz, Peter Windpassinger, Christian Wackernagel, Werner Loy, Shea Wolf, Ingrid Viale, Agnes Lash, Alex E. Pirun, Mono Socci, Nicholas D. Rütten, Arno Palmedo, Gabriele Abramson, David Offit, Kenneth Ott, Arthur Becker, Jürgen C. Cerroni, Lorenzo Kutzner, Heinz Bastian, Boris C. Speicher, Michael R. |
| author_sort |
Wiesner, Thomas |
| title |
Germline mutations in BAP1 predispose to melanocytic tumors |
| title_short |
Germline mutations in BAP1 predispose to melanocytic tumors |
| title_full |
Germline mutations in BAP1 predispose to melanocytic tumors |
| title_fullStr |
Germline mutations in BAP1 predispose to melanocytic tumors |
| title_full_unstemmed |
Germline mutations in BAP1 predispose to melanocytic tumors |
| title_sort |
germline mutations in bap1 predispose to melanocytic tumors |
| description |
Common acquired melanocytic nevi are benign neoplasms that are composed of small uniform melanocytes and typically present as flat or slightly elevated, pigmented lesions on the skin. We describe two families with a new autosomal dominant syndrome characterized by multiple skin-colored, elevated melanocytic tumors. In contrast to common acquired nevi, the melanocytic neoplasms in affected family members ranged histopathologically from epithelioid nevi to atypical melanocytic proliferations that showed overlapping features with melanoma. Some affected patients developed uveal or cutaneous melanomas. Segregating with this phenotype, we found inactivating germline mutations of the BAP1 gene. The majority of melanocytic neoplasms lost the remaining wild-type allele of BAP1 by various somatic alterations. In addition, we found BAP1 mutations in a subset of sporadic melanocytic neoplasms showing histologic similarities to the familial tumors. These findings suggest that loss of BAP1 is associated with a clinically and morphologically distinct type of melanocytic neoplasm. |
| publishDate |
2011 |
| url |
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3328403/ |
| _version_ |
1611521548647137280 |