The mast cell and mast cell disease

Longley, Jack; Duffy, Thomas P.; Kohn, Steven R.

doi:10.1016/0190-9622(95)90336-4

Cited by 170 publications

(189 citation statements)

References 116 publications

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“…Systemic mastocytosis (SM) is a neoplastic disease caused by an abnormal mast cell (MC) migration, survival, proliferation and/or activation (Longley et al, 1995). Recent studies have implicated mutations that cause spontaneous activation of c-kit kinase receptors as a probable cause of the majority of SM (Longley et al, 1999).…”

Section: Introductionmentioning

confidence: 99%

Effect of tyrosine kinase inhibitor STI571 on the kinase activity of wild-type and various mutated c-kit receptors found in mast cell neoplasms

et al. 2003

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Systemic mastocytosis (SM) is a rare disease caused by an abnormal mast cell accumulation in various tissues. Two classes of constitutive activating c-kit mutations are found in SM. The most frequent class occurs in the catalytic pocket coding region with substitutions at codon 816 and the other in the intracellular juxtamembrane coding region. Therefore, kinase inhibitors that block mutated c-kit activity might be used as therapeutic agents in SM. Here, we show that STI571 inhibits both wild-type and juxtamembrane mutant c-kit kinase activity, but has no effect on the activity of the D816 V mutant. Accordingly, STI571 selectively decreases the survival of normal mast cell and of mast cell lines either with juxtamembrane c-kit mutations, but not that of tumoral mast cell from patient with SM or of mast cell lines with the D816 V mutation. Therefore, STI571 is not a good candidate to treat SM and specific kinase inhibitors should be designed to inhibit constitutive activating mutations at codon 816.

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Section: Introductionmentioning

confidence: 99%

Effect of tyrosine kinase inhibitor STI571 on the kinase activity of wild-type and various mutated c-kit receptors found in mast cell neoplasms

et al. 2003

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“…The incidence of urticaria pigmentosa has been reported to be between 1 in 1,000 and 1 in 8,000 of the population. 1 As many as 10% of patients with urticaria pigmentosa will have systemic manifestations with mast cell degranulation. 2 Factors implicated in mast cell degranulation include trauma or mechanical irritation to the skin, psychological stress, extremes of temperature, spicy foods, alcohol, histamine-releasing drugs and biological polymers found in snake and bee venom.…”

mentioning

confidence: 99%

Anesthésie ďune parturiente en travail, atteinte ďurticaire pigmentaire

Villeneuve

Kaufman

Weeks

et al. 2006

Can J Anesth/J Can Anesth

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Purpose: To report the anesthetic management of labour pain and Cesarean section in a patient with urticaria pigmentosa at risk for systemic mastocytosis.Clinical: A 37-yr-old patient with a history of urticaria pigmentosa and an allergic reaction to a local anesthetic agent was seen in consultation at 36 weeks gestation. She previously tested negative for an allergy test to lidocaine. Recommendations to avoid systemic mastocytosis included: avoidance of histamine-releasing drugs, using lidocaine for labour epidural, and regional anesthesia in case of a Cesarean section. The patient presented at term in labour. Intravenous fentanyl was used for early labour, followed by a combined spinal-epidural. The spinal contained lidocaine and fentanyl, but because of pruritus, the epidural infusion contained lidocaine only. Most likely because of tachyphylaxis to lidocaine, an epidural bolus of lidocaine with epinephrine failed to provide adequate anesthesia for a Cesarean section. The block was supplemented with nitrous oxide by mask, with fentanyl postdelivery. Postoperative pain control was managed with an epidural infusion of lidocaine and fentanyl for three days. The patient was discharged without complications four days postsurgery. Conclusion:Proper allergy testing prior to pregnancy is important to help the management of labour pain and anesthesia for Cesarean section in a patient at risk for systemic mastocytosis. U RTICARIA pigmentosa is the cutaneous manifestation of mastocytosis, a disease characterized by the proliferation and accumulation of mast cells in various organs of the body. The incidence of urticaria pigmentosa has been reported to be between 1 in 1,000 and 1 in 8,000 of the population. 1 As many as 10% of patients with urticaria pigmentosa will have systemic Objectif Obstetrical and Pediatric AnesthesiaAnesthetic management of a labouring parturient with urticaria pigmentosa [Anesthésie d'une parturiente en travail, atteinte d'urticaire pigmentaire]

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“…Mastocytosis usually occurs as a sporadic disease and is rarely familial (1)(2)(3). The skin is the organ most commonly involved, and cutaneous lesions usually consist of discrete macular and papular collections of dermal mast cells with increased melanin pigment in the overlying epidermis.…”

mentioning

confidence: 99%

Activating and dominant inactivating c-KITcatalytic domain mutations in distinct clinical forms of human mastocytosis

Longley

Metcalfe

Tharp

et al. 1999

Proc. Natl. Acad. Sci. U.S.A.

517

426

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Human mastocytosis is characterized by increased mast cells. It usually occurs as a sporadic disease that is often transient and limited in children and persistent or progressive in adults. The c-KIT protooncogene encodes KIT, a tyrosine kinase that is the receptor for mast cell growth factor. Because mutated KIT can transform cells, we examined c-KIT in skin lesions of 22 patients with sporadic mastocytosis and 3 patients with familial mastocytosis. All patients with adult sporadic mastocytosis had somatic c-KIT mutations in codon 816 causing substitution of valine for aspartate and spontaneous activation of mast cell growth factor receptor (P ‫؍‬ 0.0001). A subset of four pediatric onset cases with clinically unusual disease also had codon 816 activating mutations substituting valine, tyrosine, or phenylalanine for aspartate. Typical pediatric patients lacked 816 mutations, but limited sequencing showed three of six had a novel dominant inactivating mutation substituting lysine for glutamic acid in position 839, the site of a potential salt bridge that is highly conserved in receptor tyrosine kinases. No c-KIT mutations were found in the entire coding region of three patients with familial mastocytosis. We conclude that c-KIT somatic mutations substituting valine in position 816

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The mast cell and mast cell disease

Cited by 170 publications

References 116 publications

Effect of tyrosine kinase inhibitor STI571 on the kinase activity of wild-type and various mutated c-kit receptors found in mast cell neoplasms

Effect of tyrosine kinase inhibitor STI571 on the kinase activity of wild-type and various mutated c-kit receptors found in mast cell neoplasms

Anesthésie ďune parturiente en travail, atteinte ďurticaire pigmentaire

Activating and dominant inactivating c-KITcatalytic domain mutations in distinct clinical forms of human mastocytosis

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