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Guide for Primary Care Doctors

Guide for Primary Care Doctors

References
  1. Trenor CC, Chaudry G (2014) Complex lymphatic anomalies. Semin Pediatr Surg 23: 186–190 Crossref Pub MedWeb of Science® Google Scholar
  2. ISSVA Classification: https://www.issva.org/classification
  3. Mäkinen T, Boon LM, Vikkula M, Alitalo K. Lymphatic Malformations: Genetics, Mechanisms and Therapeutic Strategies. Circ Res. 2021;129(1):136-154. doi:10.1161/CIRCRESAHA.121.318142
  4.  Keppler-Noreuil KM, Sapp JC, Lindhurst MJ, Parker VER, Blumhorst C, Darling T, et al. Clinical delineation and natural history of the PIK3CA-related overgrowth spectrum. Am J Med Genet A. (2014) 164:1713–33. doi: 10.1002/ajmg.a.36552 PubMed Abstract | CrossRef Full Text Google Scholar
  5. Hebron KE, Hernandez ER, Yohe ME. The RASopathies: from pathogenetics to therapeutics. Dis Model Mech. 2022 Feb 1;15(2):dmm049107. doi: 10.1242/dmm.049107. Epub 2022 Feb 18. PMID: 35178568; PMCID: PMC8862741
  6. Rodriguez-Laguna L, Agra N, Ibanez K, Oliva-Molina G, Gordo G, Khurana N, Hominick D, Beato M, Colmenero I, Herranz G et al (2019) Somatic activating mutations in PIK3CA cause generalized lymphatic anomaly. J Exp Med 216: 407–418 CrossrefCAS PubMed Web of Science® | Google Scholar
  7. Homayun-Sepehr N, McCarter AL, Helaers R, Galant C, Boon LM, Brouillard P, Vikkula M, Dellinger MT. KRAS-driven model of Gorham-Stout disease effectively treated with trametinib. JCI Insight. 2021 Aug 9;6(15):e149831. doi: 10.1172/jci.insight.149831. PMID: 34156985; PMCID: PMC8410066.
  8. McDaniel CG, Adams DM, Steele KE, et al. Kaposiform lymphangiomatosis: Diagnosis, pathogenesis, and treatment. Pediatr Blood Cancer. 2023;70(4):e30219. doi:10.1002/pbc.30219
  9. Liu M, Smith CL, Biko DM, et al. Genetics etiologies and genotype phenotype correlations in a cohort of individuals with central conducting lymphatic anomaly. Eur J Hum Genet. 2022;30(9):1022-1028. doi:10.1038/s41431-022-01123-9
  10. Iacobas I, Adams DM, Pimpalwar S, et al. Multidisciplinary guidelines for initial evaluation of complicated lymphatic anomalies—expert opinion consensus. Pediatr Blood Cancer. 2020;67(1):e28036. doi:10.1002/pbc.28036
  11. Ricci KW, Iacobas I. How we approach the diagnosis and management of complex lymphatic anomalies. Pediatr Blood Cancer. 2022;69(S3):e28985. doi:10.1002/pbc.28985
  12. Adams DM, Trenor CC, Hammill AM, Vinks AA, Patel MN, Chaudry G, Wentzel MS, Mobberley-Schuman PS, Campbell LM, Brookbank C et al (2016) Efficacy and safety of sirolimus in the treatment of complicated vascular anomalies. Pediatrics 137: 1–10 Crossref Web of Science® | Google Scholar
  13. Li D, Sheppard SE, March ME, Battig MR, Surrey LF, Srinivasan AS, Matsuoka LS, Tian L, Wang F, Seiler C, Dayneka J, Borst AJ, Matos MC, Paulissen SM, Krishnamurthy G, Nriagu B, Sikder T, Casey M, Williams L, Rangu S, O'Connor N, Thomas A, Pinto E, Hou C, Nguyen K, Pellegrino da Silva R, Chehimi SN, Kao C, Biroc L, Britt AD, Queenan M, Reid JR, Napoli JA, Low DM, Vatsky S, Treat J, Smith CL, Cahill AM, Snyder KM, Adams DM, Dori Y, Hakonarson H. Genomic profiling informs diagnoses and treatment in vascular anomalies. Nat Med. 2023 Jun;29(6):1530-1539. doi: 10.1038/s41591-023-02364-x. Epub 2023 Jun 1. PMID: 37264205.
  14. McGraw JR, Itkin M, Kovach SJ 3rd. Lymphangiography-Guided Thoracic Duct Surgical Lymphovenous Bypass for Distal Thoracic Duct Occlusion. J Vasc Interv Radiol. 2023 Aug;34(8):1472-1473. doi: 10.1016/j.jvir.2023.04.004. PMID: 37500207.
  15. Ghaffarpour N, Baselga E, Boon LM, et al. The VASCERN-VASCA working group diagnostic and management pathways for lymphatic malformations. Eur J Med Genet. 2022;65(12):104637. doi:10.1016/j.ejmg.2022.104637

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