A PIK3CA mutation in an acquired capillary malformation

被引:2
|
作者
Rosenthal, Jaclyn [1 ]
Sibbald, Cathryn [2 ]
Jen, Melinda [3 ]
Deardorff, Matthew A. [4 ]
Treat, James [3 ]
机构
[1] Univ Penn, Perelman Sch Med, Philadelphia, PA 19104 USA
[2] Hosp Sick Children, Dept Paediat, Sect Dermatol, Toronto, ON, Canada
[3] Childrens Hosp Philadelphia, Sect Dermatol, Philadelphia, PA 19104 USA
[4] Childrens Hosp Philadelphia, Div Human Genet, Philadelphia, PA 19104 USA
关键词
genetic diseases; mechanisms; vascular malformation;
D O I
10.1111/pde.14068
中图分类号
R75 [皮肤病学与性病学];
学科分类号
100206 ;
摘要
Acquired capillary malformations are rare vascular anomalies composed of dilated capillaries in the skin. We present a pediatric case of an acquired capillary malformation as a novel presentation of the PIK3CA-related overgrowth syndromes. Using next-generation sequencing, we identified a PIK3CA p.Val344Met mutation within the acquired capillary malformation with possible prognostic and therapeutic significance.
引用
收藏
页码:246 / 247
页数:2
相关论文
共 50 条
  • [1] A novel PIK3CA mutation in Megalencephaly - capillary malformation syndrome with extreme
    Smeland, M. F.
    Nystad, M.
    Leknessund, A.
    Hickson, N.
    Sjavik, K.
    Jorgensen, A.
    Prescott, T.
    [J]. EUROPEAN JOURNAL OF HUMAN GENETICS, 2018, 26 : 957 - 958
  • [2] Somatic activating PIK3CA mutation and unifocal venous malformation
    Dereure, O.
    [J]. ANNALES DE DERMATOLOGIE ET DE VENEREOLOGIE, 2016, 143 (04): : 328 - 329
  • [3] Diffuse capillary malformation with overgrowth contains somatic PIK3CA variants
    Goss, Jeremy A.
    Konczyk, Dennis J.
    Smits, Patrick
    Sudduth, Christopher L.
    Bischoff, Joyce
    Liang, Marilyn G.
    Greene, Arin K.
    [J]. CLINICAL GENETICS, 2020, 97 (05) : 736 - 740
  • [4] Detection of a mosaic PIK3CA mutation in dental DNA from a child with megalencephaly capillary malformation syndrome
    McDermott, John H.
    Byers, Helen
    Clayton-Smith, Jill
    [J]. CLINICAL DYSMORPHOLOGY, 2016, 25 (01) : 16 - 18
  • [6] PIK3CA Mutation Detection by Pyrosequencing
    Baker, C.
    [J]. JOURNAL OF MOLECULAR DIAGNOSTICS, 2010, 12 (06): : 902 - 902
  • [7] Rare mutation of PIK3CA in meningiomas
    Jesse Chung-sean Pang
    Nellie Yuk Fei Chung
    Norman Hok Ling Chan
    Wai Sang Poon
    Teresa Thomas
    Ho-keung Ng
    [J]. Acta Neuropathologica, 2006, 111 : 284 - 285
  • [8] Rare mutation of PIK3CA in meningiomas
    Pang, JCS
    Chung, NYF
    Chan, NHL
    Poon, WS
    Thomas, T
    Ng, HK
    [J]. ACTA NEUROPATHOLOGICA, 2006, 111 (03) : 284 - 285
  • [9] Neonatal death expands the phenotype of megalencephaly capillary malformation syndrome with transient hypoinsulinaemic, hypoketotic hypoglycaemia due to a PIK3CA mutation
    Boonen, S. E.
    Christesen, H.
    Bertelsen, B.
    Borgwardt, L.
    Dayani, G.
    Nielsen, J. E. K.
    [J]. EUROPEAN JOURNAL OF HUMAN GENETICS, 2019, 27 : 1880 - 1881
  • [10] Mutation of the PIK3CA oncogene in human cancers
    Karakas, B
    Bachman, KE
    Park, BH
    [J]. BRITISH JOURNAL OF CANCER, 2006, 94 (04) : 455 - 459