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Lymphatic Malformation (LM)

Lymphatic malformation (LM) is a rare disorder characterized by abnormal growth and development of the lymphatic system. Our company is at the forefront of drug and therapy development services for lymphatic malformation, aiming to provide innovative solutions to global pharmaceutical companies.

Introduction to Lymphatic Malformation (LM)

Lymphatic malformation (LM), also known as lymphangiomas or cystic hygromas, is a congenital disorder that primarily affects the lymphatic system. The incidence of lymphatic malformation is 1/6000 ~ 16 000. The lymphatic system plays a crucial role in maintaining fluid balance, immune function, and lipid absorption. In LM, there is an abnormal formation or proliferation of lymphatic vessels, leading to the development of fluid-filled cysts or masses. These cysts can occur in various parts of the body, including the head, neck, and extremities.

  • Subtypes of Lymphatic Malformation (LM)
    LM is typically classified into four subtypes: macrocystic, microcystic, mixed, and infiltrating. Macrocystic lymphatic malformations consist of large cystic spaces, while microcystic lymphatic malformations are characterized by numerous small cysts. Mixed lymphatic malformations exhibit a combination of macrocysts and microcysts while infiltrating lymphatic malformations involve abnormal lymphatic tissue infiltrating surrounding structures.

Pathogenesis of Lymphatic Malformation (LM)

The exact cause of lymphatic malformation (LM) is not yet fully understood. However, it is believed to arise from developmental abnormalities during embryogenesis. A key factor implicated in LM development is the disruption of signaling pathways involved in lymphatic vessel formation and maintenance.

Recent research has identified genetic mutations in various genes associated with LM, including PIK3CA, AKT1, TEK, and FLT4. These mutations can lead to aberrant activation of signaling pathways such as PI3K-AKT-mTOR and RAS-MAPK, which play crucial roles in lymphatic vessel development. Additionally, environmental factors and certain medications taken during pregnancy have been suggested as potential contributors to LM formation.

Signaling pathways and targets of lymphatic malformation (LM).Fig. 1 Signaling pathways in lymphatic malformation (LM). (Mäkinen T., et al., 2021)

Targets of Lymphatic Malformation (LM) Therapy

PI3K-AKT-mTOR Pathway

The PI3K-AKT-mTOR pathway is frequently dysregulated in LM. Inhibitors targeting this pathway, such as rapamycin (sirolimus), have shown promise in reducing symptoms and lesion size in LM cases.

RAS-MAPK Pathway

Activation of the RAS-MAPK pathway has been implicated in certain types of LM. Inhibitors of this pathway, such as MEK inhibitors like trametinib, hold potential for treating LM associated with RAS-MAPK pathway activation.

Mutated Gene

Specific genetic mutations, such as those in the PIK3CA gene, have been identified in LM. Targeted therapies aimed at correcting or mitigating the effects of these mutations may prove beneficial in LM therapeutics.

Targeted Therapies for Lymphatic Malformation (LM)

  • mTOR Targeted Therapy: Rapamycin (sirolimus) and other mTOR inhibitors have shown promising results in reducing symptoms and lesion size in cases with LM. These drugs target the dysregulated PI3K-AKT-mTOR pathway, providing potential therapeutic benefits.
  • PI3K Targeted Therapy: Inhibition of the PI3K pathway, which is frequently activated in LM, is an emerging therapeutic strategy. Drugs like alpelisib, a p110α-specific PI3K inhibitor, have demonstrated efficacy in treating related conditions and may hold promise for LM cases.
  • MEK Targeted Therapy: Targeting the RAS-MAPK pathway using MEK inhibitors, such as trametinib, has shown potential in rescuing lymphatic phenotypes in animal models. Trials are needed to evaluate their efficacy in LM cases.

Our Services

Our company is dedicated to providing cutting-edge diagnostics and therapy development services for lymphatic malformation (LM). We provide comprehensive solutions that combine advanced diagnostics and personalized therapeutic strategies.

Therapy Development Platforms

Animal Models of Lymphatic Malformation (LM)

Animal models are indispensable tools in preclinical research and the advancement of therapeutic interventions. Our company possesses expertise in the creation and refinement of animal models specifically designed to faithfully replicate the complex pathophysiology of LM.

Xenograft Model Development
Our company offers expertise in developing xenograft models using human LM lymphatic endothelial cells (LM-LECs). These models provide a bridge between in vitro studies and the complexity of in vivo environments, facilitating the investigation of LM biology and the testing of potential pharmacological interventions.
Optional cells CD34(Neg)CD31(Pos) LM lymphatic endothelial cells
Genetic Engineering Model Development
Our company specializes in the development of accurate mouse models that mimic somatic mosaicism, utilizing the Cre/loxP technology for inducible and cell-type-specific expression of causative mutations.
Optional Models Pik3caH1047R Model (Vegfr3-CreERT2 or Prox1-CreERT2 recombinase)
Optional Species Mouse, Rat, Non-human primates, Others

Furthermore, we offer a wide range of personalized animal models tailored to meet various requirements. If you are interested in our services, please do not hesitate to contact us for further information and details regarding pricing and related services.


  • Mäkinen T., et al. "Lymphatic malformations: genetics, mechanisms and therapeutic strategies." Circulation research 129.1 (2021): 136-154.

All of our services and products are intended for preclinical research use only and cannot be used to diagnose, treat or manage patients.

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