Rare Diseases Symptoms Automatic Extraction

Lymphatic endothelial differentiation in pulmonary lymphangioleiomyomatosis cells.

[lymphangioleiomyomatosis]

Pulmonary lymphangioleiomyomatosis (LAM) is a rare, low-grade neoplasm affecting almost exclusively women of childbearing age. LAM belongs to the family of perivascular epithelioid cell tumors, characterized by spindle and epithelioid cells with smooth muscle and melanocytic differentiation. LAM cells infiltrate the lungs, producing multiple, bilateral lesions rich in lymphatic channels and forming cysts, leading to respiratory insufficiency. Here we used antibodies against four lymphatic endothelial markers-podoplanin (detected by D2-40), prospero homeobox 1 (PROX1), vascular endothelial growth factor receptor 3 (VEGFR-3), and lymphatic vessel endothelial hyaluronan receptor 1 (LYVE1)-to determine whether LAM cells show lymphatic differentiation. Twelve of 12 diagnostic biopsy specimens (early-stage LAM) and 19 of 19 explants (late-stage LAM) showed immunopositivity for D2-40 in most neoplastic cells. PROX1, VEGFR-3, and LYVE1 immunoreactivity varied from scarce in the early stage to abundant in the late stage. Lymphatic endothelial, smooth muscle, and melanocytic markers were partially co-localized. These findings indicate that lymphatic endothelial differentiation is a feature of LAM and provide evidence of a previously unidentified third lineage of differentiation in this neoplasm. This study has implications for the histological diagnosis of LAM, the origin of the neoplastic cells, and potential future treatment with drugs targeting lymphangiogenesis.

Diseases presenting "early stage" symptom

  • adrenomyeloneuropathy
  • allergic bronchopulmonary aspergillosis
  • aromatase deficiency
  • cadasil
  • carcinoma of the gallbladder
  • child syndrome
  • cholangiocarcinoma
  • congenital adrenal hyperplasia
  • esophageal adenocarcinoma
  • esophageal carcinoma
  • esophageal squamous cell carcinoma
  • familial hypocalciuric hypercalcemia
  • familial mediterranean fever
  • gm1 gangliosidosis
  • harlequin ichthyosis
  • hereditary cerebral hemorrhage with amyloidosis
  • hodgkin lymphoma, classical
  • kindler syndrome
  • lymphangioleiomyomatosis
  • neonatal adrenoleukodystrophy
  • pyomyositis
  • scrub typhus
  • sneddon syndrome
  • typhoid
  • von hippel-lindau disease
  • zellweger syndrome

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