5p13.1

CD118,LIF-R,SJS2,STWS,SWS

Stüve-Wiedemann syndrome

SWS / SJS2

Stüve-Wiedemann syndrome is a severe autosomal recessive condition characteried by bowing of the long bones, with cortical thickening, flared metaphyses with coarsened trabecular pattern, camptodactyly, respiratory distress, feeding difficulties, and hyperthermic episodes responsible for early lethality.

ACTH-secreting pituitary adenomas

LIFR was expressed in all ACTH-secreting adenomas and non functioning adenomas. No LIFR mutations were found (Heutling et al., 2004).

Pancreatic carcinoma

Pancreatic carcinoma cells expressed LIF, LIFR and gP130 mRNAs. LIF upregulates LIFR mRNA expression and antisense oligonucleotide of LIFR suppresses cell proliferation. The results may be of potential value in immunotherapy for pancreatic carcinoma (Kamohara et al., 2007).

Neuroblastoma

Growth factors (EGF, FGF) cause a decrease in LIFR levels in neuroblastoma cells that correlated with the activation of extracellular signal-regulated kinase (Erk1/Erk2). The decrease in LIFR is due to an increase in the rate of protein degradation and is blocked by inhibitors of lysosomal degradation (Port et al., 2008).

Glioblastoma multiforme (GBM)

Glioblastoma multiforme (GBM) represents an extremely chemoresistant tumour type. The authors analysed the expression of selected neural and non-neural differentiation markers including LIFR. They found that LIFR expression was associated with chemosensitivity of tumour cells to several chemotherapeutic agents. However, its role in glioma pathogenesis and response to therapy remains to be elucidated.