Publications from Projects Funded by the LMI and MDBR Programs
2025
Understanding the Lymphatic System: Tissue-on-Chip Modeling.
Polacheck WJ, Dixon JB, Aw WY. Annu Rev Biomed Eng. 2025 Jan 22. doi: 10.1146/annurev-bioeng-110222-100246. Online ahead of print.
https://pubmed.ncbi.nlm.nih.gov/39841937/
Dysfunctional mechanotransduction regulates the progression of PIK3CA-driven vascular malformations.
Aw WY, Sawhney A, Rathod M, Whitworth CP, Doherty EL, Madden E, Lu J, Westphal K, Stack R, Polacheck WJ. APL Bioeng. 2025 Feb 5;9(1):016106. doi: 10.1063/5.0234507. eCollection 2025 Mar.
https://pubmed.ncbi.nlm.nih.gov/39935869/
2024
NRASQ61R mutation drives elevated angiopoietin-2 expression in human endothelial cells and a genetic mouse model.
Pastura P, McDaniel CG, Alharbi S, Fox D, Coleman B, Malik P, Adams DM, Le Cras TD. Pediatr Blood Cancer. 2024 Jul;71(7):e31032. doi: 10.1002/pbc.31032.
https://pubmed.ncbi.nlm.nih.gov/38711167/
Factors affecting the ability of patients with complex vascular anomalies to navigate the healthcare system.
Sisk B, Lin S, Kerr AM. Orphanet J Rare Dis. 2024 Jan 18;19(1):18. doi: 10.1186/s13023-024-03018-y.
https://pubmed.ncbi.nlm.nih.gov/38238812/
The Role of Perceived Health-Related Information Adequacy in the Experiences of Parents of Children With Complex Vascular Anomalies.
Mirpuri KK, Sisk B, Bereitschaft C, Kerr AM. Pediatr Blood Cancer. 2025 Jun;72(6):e31697. doi: 10.1002/pbc.31697. Epub 2025 Apr 2.
https://pubmed.ncbi.nlm.nih.gov/40172173/
The role of primary care in rare disorders: A qualitative study of parents and patients managing complex vascular anomalies.
Kerr AM, Bereitschaft C, Sisk B. J Family Med Prim Care. 2024 May;13(5):2116-2122. doi: 10.4103/jfmpc.jfmpc_1556_23. Epub 2024 May 24.
https://pubmed.ncbi.nlm.nih.gov/38948545/
2023
Microphysiological model of PIK3CA-driven vascular malformations reveals a role of dysregulated Rac1 and mTORC1/2 in lesion formation.
Aw WY, Cho C, Wang H, Cooper AH, Doherty EL, Rocco D, Huang SA, Kubik S, Whitworth CP, Armstrong R, Hickey AJ, Griffith B, Kutys ML, Blatt J, Polacheck WJ. Sci Adv. 2023 Feb 15;9(7):eade8939. doi: 10.1126/sciadv.ade8939. Epub 2023 Feb 15.
https://pubmed.ncbi.nlm.nih.gov/36791204/
Genomic profiling informs diagnoses and treatment in vascular anomalies.
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, 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. Nat Med. 2023 Jun;29(6):1530-1539. doi: 10.1038/s41591-023-02364-x. Epub 2023 Jun 1.
https://pubmed.ncbi.nlm.nih.gov/37264205/
The Lymphatic Endothelial Cell Secretome Inhibits Osteoblast Differentiation and Bone Formation.
Solorzano E, Alejo AL, Ball HC, Robinson GT, Solorzano AL, Safadi R, Douglas J, Kelly M, Safadi FF. Cells. 2023 Oct 18;12(20):2482. doi: 10.3390/cells12202482.
https://pubmed.ncbi.nlm.nih.gov/37887326/
Communication with parents and young adult patients affected by complex vascular
malformations.
Sisk B, Bereitschaft C, Kerr A. Pediatr Blood Cancer. 2023 Mar;70(3):e30158. doi: 10.1002/pbc.30158. Epub 2022 Dec 22.
https://pubmed.ncbi.nlm.nih.gov/36545911/
Kaposiform lymphangiomatosis: Diagnosis, pathogenesis, and treatment.
McDaniel et al., 2023. Pediatr Blood Cancer. doi: 10.1002/pbc.30219.
https://pubmed.ncbi.nlm.nih.gov/36683202/
2022
NRASQ61R mutation in human endothelial cells causes vascular malformations.
Boscolo et al., 2022. Angiogenesis. 25;331-342.
https://pubmed.ncbi.nlm.nih.gov/35391614/
2021
KRAS-driven model of Gorham-Stout disease effectively treated with trametinib.
Homayun-Sepehr et al., 2021. JCI Insight. 6(15):e149831.
https://pubmed.ncbi.nlm.nih.gov/34156985/
2020
Kaposiform lymphangiomatosis treated with multimodal therapy improves coagulopathy and reduces blood angiopoietin-2 levels.
Crane J, et al., 2020. Pediatr Blood Cancer. Jul 7:e28529.
https://pubmed.ncbi.nlm.nih.gov/32634277/
Constitutively active PIK3CA mutations are expressed by lymphatic and vascular endothelial cells in capillary lymphatic venous malformation.
Le Cras et al., 2020. Angiogenesis. 23;425-442.
https://pubmed.ncbi.nlm.nih.gov/32350708/
Lymphatics in bone arise from pre-existing lymphatics.
Monroy et al., 2020. Development. 2020 Apr 20;147(21):dev184291.
https://pubmed.ncbi.nlm.nih.gov/32188632/
Multidisciplinary guidelines for initial evaluation of complicated lymphatic anomalies-expert opinion consensus.
Iacobas et al., 2020. Pediatr Blood Cancer. Jan;67(1):e28036.
https://pubmed.ncbi.nlm.nih.gov/31617676/
Abnormal Pulmonary Lymphatic Flow in Patients With Lymphatic Anomalies and Respiratory Compromise.
Itkin et al., 2020. Chest. Mar 24:S0012-3692(20)30474-8. doi: 10.1016/j.chest.2020.02.058. PMID: 32220591
https://pubmed.ncbi.nlm.nih.gov/32220591/
2019
Somatic activating mutations in PIK3CA cause generalized lymphatic anomaly.
Rodriguez-Laguna et al., 2019 Journal of Experimental Medicine. 216;407-418.
https://www.ncbi.nlm.nih.gov/pubmed/30591517
Signaling pathways and inhibitors of cells from patients with kaposiform lymphangiomatosis.
Boscolo et al., 2019. Pediatr Blood Cancer. Aug;66(8):e27790.
https://www.ncbi.nlm.nih.gov/pubmed/31045327
2018
VEGF-C promotes the development of lymphatics in bone and bone loss.
Hominick et al., 2018. eLife 2018;7:e34323
https://www.ncbi.nlm.nih.gov/pubmed/29620526
2017
Rapamycin reversal of VEGF-C-driven lymphatic anomalies in the respiratory tract.
Baluk et al., 2017. JCI Insight. 2017 Aug 17;2(16). pii: 90103
https://www.ncbi.nlm.nih.gov/pubmed/28814666
Lymphatic Endothelial Cells Produce M-CSF, Causing Massive Bone Loss in Mice.
Wang et al., 2017. J Bone Miner Res. 32;939-950.
https://www.ncbi.nlm.nih.gov/pubmed/28052488
Angiopoietins as serum biomarkers for lymphatic anomalies.
Le Cras et al., 2017. Angiogenesis. 20;163-173.
https://www.ncbi.nlm.nih.gov/pubmed/27990590
2016
Pulmonary and pleural lymphatic endothelial cells from pediatric, but not adult, patients with Gorham-Stout disease and generalized lymphatic anomaly, show a high proliferation rate.
Mori et al., 2016. Orphanet J Rare Dis.11:67.
https://www.ncbi.nlm.nih.gov/pubmed/27194137
Meeting report for the 2016 conference on GLA and Gorham-Stout disease
Iacobas et al., 2016. IBMS BoneKEy.
A New Case and Review of Chylothorax in Generalized Lymphatic Anomaly and Gorham-Stout Disease.
Ludwig et al., 2016. Lymphology. 49;73-84.
https://www.ncbi.nlm.nih.gov/pubmed/29906363
2015
Caution is recommended prior to sildenafil use in vascular anomalies.
Rankin et al., 2015. Pediatr Blood Cancer 62;2015-2017.
http://www.ncbi.nlm.nih.gov/pubmed/25982365
Near-Infrared Fluorescence Lymphatic Imaging in Lymphangiomatosis.
Rasmussen et al., 2015. Lymphat Res Biol 13;195-201.
http://www.ncbi.nlm.nih.gov/pubmed/26287470
2014
Kaposiform Lymphangiomatosis: A Distinct Aggressive Lymphatic Anomaly
Croteau et al., 2014. J Pediatr 164;383-388.
http://www.ncbi.nlm.nih.gov/pubmed/24252784
Viewpoints on vessels and vanishing bones in Gorham-Stout disease.
Dellinger et al., 2014. Bone 63;47-52.
http://www.ncbi.nlm.nih.gov/pubmed/24583233
Pulmonary Lymphangiectasia Resulting from Vegf-C Overexpression During a Critical Period.
Yao et al., 2014. Circ Res 114;806-822.
http://www.ncbi.nlm.nih.gov/pubmed/24429550
2013
First International Conference on Generalized Lymphatic Anomaly and Gorham–Stout Syndrome
Dellinger et al., 2013. IBMS BoneKEy 10; Article number:476.