Soft tissue angiomatosis: another PIK3CA-related disorder

被引:7
作者
Boccara, Olivia [1 ,2 ]
Galmiche-Rolland, Louise [3 ]
Dadone-Montaudie, Berengere [4 ]
Ariche-Maman, Sonia [5 ]
Coulet, Florence [6 ]
Eyries, Melanie [6 ]
Pannier, Stephanie [7 ]
Soupre, Veronique [8 ]
Molina, Thierry [3 ]
Pedeutour, Florence [4 ]
Fraitag, Sylvie [3 ]
机构
[1] Univ Paris, Hop Univ Necker Enfants Malad, AP HP, Dept Dermatol,Paris Ctr,Inst Imagine, Paris, France
[2] Univ Paris, Hop Univ Necker Enfants Malad, AP HP,Paris Ctr,Inst Imagine, Reference Ctr Genodermatoses & Rare Skin Dis MAGE, Paris, France
[3] Hop Univ Necker Enfants Malad, AP HP, Dept Pathol, Paris, France
[4] Univ Cote Azur, CHU Nice, Lab Solid Tumour Genet, IRCAN,CNRS UMR 7284,INSERM U1081, Nice, France
[5] Hop Univ Necker Enfants Malad, AP HP, Dept Pediat Radiol, Paris, France
[6] Univ Paris 06, Grp Hosp Pitie Salpetriere, AP HP, Genet, Paris, France
[7] Hop Univ Necker Enfants Malad, AP HP, Dept Orthoped Surg, Paris, France
[8] Hop Univ Necker Enfants Malad, AP HP, Maxillofacial Surg & Stomatol Dept, Paris, France
关键词
PIK3CA-related overgrowth syndrome; PTEN hamartoma of soft tissue; PTEN hamartoma tumour syndrome; soft tissue angiomatosis; OVERGROWTH SPECTRUM PROS; ACTIVATING MUTATIONS; VASCULAR ANOMALIES; DIAGNOSIS; RECOMMENDATIONS; FEATURES;
D O I
10.1111/his.14021
中图分类号
Q2 [细胞生物学];
学科分类号
071009 ; 090102 ;
摘要
Aim Angiomatosis of soft tissue (AST) is a rare, high-flow, intramuscular vascular anomaly. In the context of PTEN hamartoma tumour syndrome (PHTS), this AST is referred to as PTEN hamartoma of soft tissue. Given that AST is observed in patients with no history of PHTS, we hypothesised that non-syndromic AST arises as a consequence of a somatic mutation. Methods and results Thirteen patients with histologically confirmed AST were retrospectively studied. Details of the patients' personal and family medical histories and symptoms were retrieved from their medical records. The histological analyses were reviewed and a tissue sample was used for genetic testing. Somatic mutations in the PIK3CA gene (p.Glu542Lys; p.Glu545Lys; p.His1047Arg) were identified in the tissue samples from seven patients, all of whom had unremarkable medical histories and had presented with a single lesion located in the lower limb. Five pathogenic variations in the PTEN gene (mutations: p.Lys263Arg; c.1026+2T>A; p.Ala126Thr; p.Leu108Arg; deletion, log ratio -0.55) were identified in the lesions of four patients; two of the latter had multifocal lesions. All four patients displayed macrocephaly, three boys presented with penile freckles, but none had a family history of PHTS. There were no histological differences between the PIK3CA and PTEN groups. Conclusions AST can be related to either PTEN or PIK3CA mutations and may be multifocal in PHTS. AST appears to be a manifestation of PHTS that occurs in early childhood. The patient's medical history and clinical presentation should prompt the physician to perform specific genetic testing.
引用
收藏
页码:540 / 549
页数:10
相关论文
共 44 条
  • [21] Phenotypic and molecular characterization of five patients with PIK3CA-related overgrowth spectrum (PROS)
    Ili, Ezgi Gokpinar
    Tasdelen, Elifcan
    Durmaz, Ceren Damla
    Altiner, Sule
    Tuncali, Timur
    Martinez-Glez, Victor
    Karabulut, Halil Gurhan
    Vural, Secil
    Ceylaner, Serdar
    Acar, Mustafa Oguz
    Ruhi, Hatice Ilgin
    [J]. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2022, 188 (06) : 1792 - 1800
  • [22] Causal somatic mutations in urine DNA from persons with the CLOVES subgroup of the PIK3CA-related overgrowth spectrum
    Michel, M. E.
    Konczyk, D. J.
    Yeung, K. S.
    Murillo, R.
    Vivero, M. P.
    Hall, A. M.
    Zurakowski, D.
    Adams, D.
    Gupta, A.
    Huang, A. Y.
    Chung, B. H. Y.
    Warman, M. L.
    [J]. CLINICAL GENETICS, 2018, 93 (05) : 1075 - 1080
  • [23] Molecular characterization of 13 patients with PIK3CA-related overgrowth spectrum using a targeted deep sequencing approach
    de Kock, Leanne
    Cuillerier, Alexanne
    Gillespie, Meredith
    Couse, Madeline
    Hartley, Taila
    Mears, Wendy
    Bernier, Francois P.
    Chudley, Albert E.
    Frosk, Patrick
    Nikkel, Sarah M.
    Innes, A. Micheil
    Lauzon, Julie
    Thomas, Maryann
    Guerin, Andrea
    Armour, Christine M.
    Weksberg, Rosanna
    Scott, James N.
    Watkins, Debra
    Harvey, Shirley
    Cytrynbaum, Cheryl
    Kernohan, Kristin D.
    Boycott, Kym M.
    [J]. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2024, 194 (03)
  • [24] Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variants
    Mussa, Alessandro
    Leoni, Chiara
    Iacoviello, Matteo
    Carli, Diana
    Ranieri, Carlotta
    Pantaleo, Antonino
    Buonuomo, Paola Sabrina
    Bagnulo, Rosanna
    Ferrero, Giovanni Battista
    Bartuli, Andrea
    Melis, Daniela
    Maitz, Silvia
    Loconte, Daria Carmela
    Turchiano, Antonella
    Piglionica, Marilidia
    De Luisi, Annunziata
    Susca, Francesco Claudio
    Bukvic, Nenad
    Forleo, Cinzia
    Selicorni, Angelo
    Zampino, Giuseppe
    Onesimo, Roberta
    Cappuccio, Gerarda
    Garavelli, Livia
    Novelli, Chiara
    Memo, Luigi
    Morando, Carla
    Della Monica, Matteo
    Accadia, Maria
    Capurso, Martina
    Piscopo, Carmelo
    Cereda, Anna
    Di Giacomo, Marilena Carmela
    Saletti, Veronica
    Spinelli, Alessandro Mauro
    Lastella, Patrizia
    Tenconi, Romano
    Dvorakova, Veronika
    Irvine, Alan D.
    Resta, Nicoletta
    [J]. JOURNAL OF MEDICAL GENETICS, 2023, 60 (02) : 163 - 173
  • [25] Characterization of a severe case of PIK3CA-related overgrowth at autopsy by droplet digital polymerase chain reaction and report of PIK3CA sequencing in 22 patients
    Piacitelli, Andrew M.
    Jensen, Dana M.
    Brandling-Bennett, Heather
    Gray, Megan Mariner
    Batra, Maneesh
    Gust, Juliane
    Thaker, Ameet
    Paschal, Catherine
    Tsuchiya, Karen
    Pritchard, Colin C.
    Perkins, Jonathan
    Mirzaa, Ghayda M.
    Bennett, James T.
    [J]. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2018, 176 (11) : 2301 - 2308
  • [26] PIK3CA-Related Overgrowth Spectrum (PROS): Diagnostic and Testing Eligibility Criteria, Differential Diagnosis, and Evaluation
    Keppler-Noreuil, Kim M.
    Rios, Jonathan J.
    Parker, Victoria E. R.
    Semple, Robert K.
    Lindhurst, Marjorie J.
    Sapp, Julie C.
    Alomari, Ahmad
    Ezaki, Marybeth
    Dobyns, William
    Biesecker, Leslie G.
    [J]. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2015, 167 (02) : 287 - 295
  • [27] Clinical profile of overgrowth syndromes consistent with PROS (PIK3CA-related overgrowth syndromes)-A case series
    Mathew, Lydia
    George, Renu
    Sudhakar, Sniya
    Keshava, Shyamkumar N.
    Fouzia, N. A.
    [J]. INDIAN DERMATOLOGY ONLINE JOURNAL, 2020, 11 (05) : 738 - 746
  • [28] Evaluation and management of the lateral marginal vein in Klippel-Trenaunay and other PIK3CA-related overgrowth syndromes
    Fereydooni, Arash
    Nassiri, Naiem
    [J]. JOURNAL OF VASCULAR SURGERY-VENOUS AND LYMPHATIC DISORDERS, 2020, 8 (03) : 482 - 493
  • [29] Uncovering somatic mosaic variants of PIK3CA-related overgrowth disorders - three cases with different clinical presentations
    Tooming, M.
    Mertsina, P.
    Kahre, T.
    Teek, R.
    Vainumae, I.
    Lilles, S.
    Wojcik, M. H.
    Ilves, P.
    Ounap, K.
    [J]. FRONTIERS IN GENETICS, 2025, 15
  • [30] Mapping the PIK3CA-related overgrowth spectrum (PROS) patient and caregiver journey using a patient-centered approach
    Rodriguez-Laguna, Lara
    Davis, Kristen
    Finger, Mellenee
    Aubel, Dawn
    Vlamis, Robin
    Johnson, Craig
    [J]. ORPHANET JOURNAL OF RARE DISEASES, 2022, 17 (01)