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Your search keyword '"Lanoel, Agustina"' showing total 7 results
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7 results on '"Lanoel, Agustina"'

1. Segmental congenital vascular anomaly with atrophy, ulceration, and scarring (SeCVAUS): Case series and review of literature.

Author

Ivars, Marta, Frieden, Ilona J., Provini, Lauren, Wassef, Michel, Weibel, Lisa, Theiler, Martin, Lanoel, Agustina, Martinez‐Glez, Victor, Rodriguez‐Laguna, Lara, van der Vleuten, Carine, Guibaud, Laurent, Puttgen, Katherine, Azaña‐Defez, Jose Manuel, Chamlin, Sarah, Drolet, Beth, Torres, Natalia, Wyrzykowsky, Dariusz, Colmenero, Isabel, and Lopez‐Gutierrez, Juan Carlos

Subjects
SOMATIC mutation, NEVUS, GENETIC disorders, MISSENSE mutation, HEMANGIOMAS
Abstract

Background: Next‐generation sequencing has greatly increased our understanding of vascular birthmarks. Many port‐wine birthmarks are due to somatic mutations in GNAQ/GNA11 exon 183, but other genomic causes have been identified. Most congenital hemangiomas are due to somatic mutations in GNAQ/GNA11 at exon 209. Although genomically distinct, clinical overlap of congenital hemangiomas and port‐wine birthmarks has occasionally been described. Objective: We report a case series of a unique segmentally distributed vascular anomaly with overlapping characteristics of port‐wine birthmarks and congenital hemangiomas with other distinctive features including ulceration, atrophy, and scarring. Methods: This was a multicenter study with retrospective identification of patients via a detailed review of medical records. We also reviewed previously published cases. Results: The clinical, histological, radiological, and genomic characteristics of 19 new and 13 previously reported cases characterized by segmental distribution, sharply demarcated borders, with variable thickening are presented. All cases had central atrophy with or without episodic ulceration. Those with genomic studies (13 out of 32) had somatic activating missense mutations in GNA11 or GNAQ codon 209. Conclusions: We describe the features and propose a descriptive name segmental congenital vascular anomaly with atrophy, ulceration, and scarring (SeCVAUS) for this condition. [ABSTRACT FROM AUTHOR]

Published
2024
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2. Blue Rubber Bleb Nevus (BRBN) Syndrome Is Caused by Somatic TEK (TIE2) Mutations

Author

Soblet, Julie, Kangas, Jaakko, Nätynki, Marjut, Mendola, Antonella, Helaers, Raphaël, Uebelhoer, Melanie, Kaakinen, Mika, Cordisco, Maria, Dompmartin, Anne, Enjolras, Odile, Holden, Simon, Irvine, Alan D., Kangesu, Loshan, Léauté-Labrèze, Christine, Lanoel, Agustina, Lokmic, Zerina, Maas, Saskia, McAleer, Maeve A., Penington, Anthony, Rieu, Paul, Syed, Samira, van der Vleuten, Carine, Watson, Rosemarie, Fishman, Steven J., Mulliken, John B., Eklund, Lauri, Limaye, Nisha, Boon, Laurence M., and Vikkula, Miikka

Published
2017
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5. PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution

Author

Mirzaa, Ghayda, Timms, Andrew E., Conti, Valerio, Boyle, Evan August, Girisha, Katta M., Martin, Beth, Kircher, Martin, Olds, Carissa, Juusola, Jane, Collins, Sarah, Park, Kaylee, Carter, Melissa, Glass, Ian, Krägeloh-mann, Inge, Chitayat, David, Parikh, Aditi Shah, Bradshaw, Rachael, Torti, Erin, Braddock, Steve, Burke, Leah, Ghedia, Sondhya, Stephan, Mark, Stewart, Fiona, Prasad, Chitra, Napier, Melanie, Saitta, Sulagna, Straussberg, Rachel, Gabbett, Michael, O’Connor, Bridget C., Keegan, Catherine E., Yin, Lim Jiin, Lai, Angeline Hwei Meeng, Martin, Nicole, Mckinnon, Margaret, Addor, Marie-claude, Boccuto, Luigi, Schwartz, Charles E., Lanoel, Agustina, Conway, Robert L., Devriendt, Koenraad, Tatton-Brown, Katrina, Pierpont, Mary Ella, Painter, Michael, Worgan, Lisa, Reggin, James, Hennekam, Raoul, Tsuchiya, Karen, Pritchard, Colin C., Aracena, Mariana, Gripp, Karen W., Cordisco, Maria, Van Esch, Hilde, Garavelli, Livia, Curry, Cynthia, Goriely, Anne, Kayserilli, Hulya, Shendure, Jay, Graham, John, Guerrini, Renzo, Dobyns, William B., Mirzaa, Ghayda, Timms, Andrew E., Conti, Valerio, Boyle, Evan August, Girisha, Katta M., Martin, Beth, Kircher, Martin, Olds, Carissa, Juusola, Jane, Collins, Sarah, Park, Kaylee, Carter, Melissa, Glass, Ian, Krägeloh-mann, Inge, Chitayat, David, Parikh, Aditi Shah, Bradshaw, Rachael, Torti, Erin, Braddock, Steve, Burke, Leah, Ghedia, Sondhya, Stephan, Mark, Stewart, Fiona, Prasad, Chitra, Napier, Melanie, Saitta, Sulagna, Straussberg, Rachel, Gabbett, Michael, O’Connor, Bridget C., Keegan, Catherine E., Yin, Lim Jiin, Lai, Angeline Hwei Meeng, Martin, Nicole, Mckinnon, Margaret, Addor, Marie-claude, Boccuto, Luigi, Schwartz, Charles E., Lanoel, Agustina, Conway, Robert L., Devriendt, Koenraad, Tatton-Brown, Katrina, Pierpont, Mary Ella, Painter, Michael, Worgan, Lisa, Reggin, James, Hennekam, Raoul, Tsuchiya, Karen, Pritchard, Colin C., Aracena, Mariana, Gripp, Karen W., Cordisco, Maria, Van Esch, Hilde, Garavelli, Livia, Curry, Cynthia, Goriely, Anne, Kayserilli, Hulya, Shendure, Jay, Graham, John, Guerrini, Renzo, and Dobyns, William B.

Abstract

Mosaicism is increasingly recognized as a cause of developmental disorders with the advent of next-generation sequencing (NGS). Mosaic mutations of PIK3CA have been associated with the widest spectrum of phenotypes associated with overgrowth and vascular malformations. We performed targeted NGS using 2 independent deep-coverage methods that utilize molecular inversion probes and amplicon sequencing in a cohort of 241 samples from 181 individuals with brain and/or body overgrowth. We identified PIK3CA mutations in 60 individuals. Several other individuals (n = 12) were identified separately to have mutations in PIK3CA by clinical targeted-panel testing (n = 6), whole-exome sequencing (n = 5), or Sanger sequencing (n = 1). Based on the clinical and molecular features, this cohort segregated into three distinct groups: (a) severe focal overgrowth due to low-level but highly activating (hotspot) mutations, (b) predominantly brain overgrowth and less severe somatic overgrowth due to less-activating mutations, and (c) intermediate phenotypes (capillary malformations with overgrowth) with intermediately activating mutations. Sixteen of 29 PIK3CA mutations were novel. We also identified constitutional PIK3CA mutations in 10 patients. Our molecular data, combined with review of the literature, show that PIK3CA-related overgrowth disorders comprise a discontinuous spectrum of disorders that correlate with the severity and distribution of mutations.

Published
2016

6. PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution

Author

Mirzaa, Ghayda, primary, Timms, Andrew E., additional, Conti, Valerio, additional, Boyle, Evan August, additional, Girisha, Katta M., additional, Martin, Beth, additional, Kircher, Martin, additional, Olds, Carissa, additional, Juusola, Jane, additional, Collins, Sarah, additional, Park, Kaylee, additional, Carter, Melissa, additional, Glass, Ian, additional, Krägeloh-Mann, Inge, additional, Chitayat, David, additional, Parikh, Aditi Shah, additional, Bradshaw, Rachael, additional, Torti, Erin, additional, Braddock, Steve, additional, Burke, Leah, additional, Ghedia, Sondhya, additional, Stephan, Mark, additional, Stewart, Fiona, additional, Prasad, Chitra, additional, Napier, Melanie, additional, Saitta, Sulagna, additional, Straussberg, Rachel, additional, Gabbett, Michael, additional, O’Connor, Bridget C., additional, Keegan, Catherine E., additional, Yin, Lim Jiin, additional, Lai, Angeline Hwei Meeng, additional, Martin, Nicole, additional, McKinnon, Margaret, additional, Addor, Marie-Claude, additional, Boccuto, Luigi, additional, Schwartz, Charles E., additional, Lanoel, Agustina, additional, Conway, Robert L., additional, Devriendt, Koenraad, additional, Tatton-Brown, Katrina, additional, Pierpont, Mary Ella, additional, Painter, Michael, additional, Worgan, Lisa, additional, Reggin, James, additional, Hennekam, Raoul, additional, Tsuchiya, Karen, additional, Pritchard, Colin C., additional, Aracena, Mariana, additional, Gripp, Karen W., additional, Cordisco, Maria, additional, Van Esch, Hilde, additional, Garavelli, Livia, additional, Curry, Cynthia, additional, Goriely, Anne, additional, Kayserilli, Hulya, additional, Shendure, Jay, additional, Graham, John, additional, Guerrini, Renzo, additional, and Dobyns, William B., additional

Published
2016
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7. Blue Rubber Bleb Nevus (BRBN) Syndrome Is Caused by Somatic TEK(TIE2) Mutations

Author

Soblet, Julie, Kangas, Jaakko, Nätynki, Marjut, Mendola, Antonella, Helaers, Raphaël, Uebelhoer, Melanie, Kaakinen, Mika, Cordisco, Maria, Dompmartin, Anne, Enjolras, Odile, Holden, Simon, Irvine, Alan D., Kangesu, Loshan, Léauté-Labrèze, Christine, Lanoel, Agustina, Lokmic, Zerina, Maas, Saskia, McAleer, Maeve A., Penington, Anthony, Rieu, Paul, Syed, Samira, van der Vleuten, Carine, Watson, Rosemarie, Fishman, Steven J., Mulliken, John B., Eklund, Lauri, Limaye, Nisha, Boon, Laurence M., and Vikkula, Miikka

Abstract

Blue rubber bleb nevus syndrome (Bean syndrome) is a rare, severe disorder of unknown cause, characterized by numerous cutaneous and internal venous malformations; gastrointestinal lesions are pathognomonic. We discovered somatic mutations in TEK, the gene encoding TIE2, in 15 of 17 individuals with blue rubber bleb nevus syndrome. Somatic mutations were also identified in five of six individuals with sporadically occurring multifocal venous malformations. In contrast to common unifocal venous malformation, which is most often caused by the somatic L914F TIE2 mutation, multifocal forms are predominantly caused by double (cis) mutations, that is, two somatic mutations on the same allele of the gene. Mutations are identical in all lesions from a given individual. T1105N-T1106P is recurrent in blue rubber bleb nevus, whereas Y897C-R915C is recurrent in sporadically occurring multifocal venous malformation: both cause ligand-independent activation of TIE2, and increase survival, invasion, and colony formation when expressed in human umbilical vein endothelial cells.

Published
2017
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