No abstract

HAP is common but over-diagnosed in older hospitalised patients.

The Philadelphia negative myeloproliferative neoplasms include polycythaemia vera (PV), essential thrombocytopenia (ET) and primary myelofibrosis (PMF). Patients with these conditions were mainly thought to harbourJAK2V617Fmutations or anMyeloproliferative leukaemia(MPL) substitution. In 2013, two revolutionary studies identified recurrent mutations in a gene that encodes the protein calreticulin (CALR). This mutation was detected in patients with PMF and ET with non-mutatedJAK2orMPLbut was absent in patients with PV. TheCALRgene encodes the calreticulin protein, which is a multifactorial protein, mainly located in the endoplasmic reticulum in chromosome 19 and regulates calcium homeostasis, chaperones and has also been implicated in multiple cellular processes including cell signalling, regulation of gene expression, cell adhesion, autoimmunity and apoptosis. Somatic 52 bp deletions and recurrent 52 bp insertion mutations inCALRwere detected and all resulted in frameshift and clusters in exon 9 of the gene. This review will summarise the current knowledge on theCALRgene and mutation of the gene in pathological conditions and patient phenotypes.

A 43-year-old man developed an abnormal scar 6 months following excision of a leiomyoma from his left shoulder. The scar was elevated, irregular in shape, pink-red in colour, hard in consistency and it was extending beyond the margins of the original wound. A diagnosis of a keloid scar was considered and the patient was managed as such. He underwent a planned procedure for intralesional excision of the keloid scar. The histopathological examination showed a diagnosis of leiomyosarcoma. This case report presents a delayed diagnosis of dermal leiomyosarcoma mimicking a keloid scar. The patient subsequently underwent wider excision of the tumour with curative intention.

Method Up to 140 EU sites will enrol 1000 patients. Safety data are recorded at routine clinic visits for 2 years. Adverse drug reactions (ADR: a noxious, unintended drug response at therapeutic doses) and serious ADRs (SADR: ADRs that are lifethreatening; cause death, disability, congenital anomaly; require hospitalisation or an intervention to prevent permanent impairment) are collected. Results Data from 530 patients enrolled by 68 sites in 7 countries are included. Age was 69 ± 8.8 years (mean ± SD); IPF diagnosis duration was 1.8 ± 3.51 years; 81% were men. Median time in study was 5.5 months; total exposure was 284 person-years. Of 311 patients with ADRs, 85 discontinued due to ADR and 41 discontinued for other reasons. Approximately 1/3 of patients with ADRs had their dose adjusted.