Rare Diseases Symptoms Automatic Extraction

Towards personalised therapy for lymphangioleiomyomatosis: lessons from cancer.

[lymphangioleiomyomatosis]

Lymphangioleiomyomatosis (LAM) is a rare cystic, destructive lung disease occurring almost exclusively in females. Bi-allelic inactivating tuberous sclerosis complex (TSC) gene mutations occur in LAM cells, resulting in activation of the mTORC1 pathway. Pivotal clinical trials have demonstrated that inhibition of mTORC1 with sirolimus can induce a partial response of TSC-associated tumours and decrease the rate of lung function decline in females with LAM. Many parallels have been identified between LAM pathogenesis and neoplasia. Here, we highlight three key nodes through which advances in cancer therapy can streamline future innovation in clinical LAM research with parallels to breast and prostate cancer. These include: 1) hormonally targeted therapies to achieve true disease-free complete remissions; 2) the use of vascular endothelial growth factor-D and other plasma biomarkers to streamline early-phase clinical trials; and 3) the utilisation of histological and molecular features of biopsy material to enable patient stratification and personalised therapies.

Diseases presenting "cancer" symptom

  • achondroplasia
  • acute rheumatic fever
  • adrenal incidentaloma
  • alpha-thalassemia
  • benign recurrent intrahepatic cholestasis
  • cadasil
  • canavan disease
  • carcinoma of the gallbladder
  • cholangiocarcinoma
  • coats disease
  • congenital adrenal hyperplasia
  • congenital diaphragmatic hernia
  • cowden syndrome
  • cushing syndrome
  • cutaneous mastocytosis
  • dedifferentiated liposarcoma
  • dystrophic epidermolysis bullosa
  • epidermolysis bullosa simplex
  • erdheim-chester disease
  • erythropoietic protoporphyria
  • esophageal adenocarcinoma
  • esophageal carcinoma
  • esophageal squamous cell carcinoma
  • familial hypocalciuric hypercalcemia
  • familial mediterranean fever
  • gm1 gangliosidosis
  • heparin-induced thrombocytopenia
  • hereditary cerebral hemorrhage with amyloidosis
  • hirschsprung disease
  • hodgkin lymphoma, classical
  • inclusion body myositis
  • junctional epidermolysis bullosa
  • kabuki syndrome
  • kallmann syndrome
  • kindler syndrome
  • lamellar ichthyosis
  • liposarcoma
  • locked-in syndrome
  • lymphangioleiomyomatosis
  • monosomy 21
  • neuralgic amyotrophy
  • oculocutaneous albinism
  • oligodontia
  • oral submucous fibrosis
  • papillon-lefèvre syndrome
  • pendred syndrome
  • pleomorphic liposarcoma
  • primary effusion lymphoma
  • proteus syndrome
  • pyomyositis
  • pyruvate dehydrogenase deficiency
  • severe combined immunodeficiency
  • sneddon syndrome
  • systemic capillary leak syndrome
  • triple a syndrome
  • von hippel-lindau disease
  • waldenström macroglobulinemia
  • well-differentiated liposarcoma
  • werner syndrome
  • wiskott-aldrich syndrome
  • wolf-hirschhorn syndrome
  • x-linked adrenoleukodystrophy

This symptom has already been validated