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Inherited disorder characterized by numerous cutaneous malignant melanomas associated with tumors of the nervous system, including astrocytoma, medulloblastoma, glioblastoma multiforme, ependymoma, glioma, meningioma, and acoustic neurilemmoma.

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Melanoma and Neural System Tumor Syndrome.

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Unknown.

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Autosomal dominant. The gene has been mapped to 9p21 with germ-like mutation in the cyclin-dependent kinase inhibitor 2A (CDKN2A)

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Chromosome region 9p21 is involved in chromosomal inversions, translocations, heterozygous deletions, and homozygous deletions in a variety of malignant cell lines. These findings suggest that 9p21 contains a tumor suppressor locus that may be involved in the genesis of several tumor types.

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Clinical predictive genetic testing for mutation in the CDKN2A gene is available commercially.

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Generally, most individuals affected with this syndrome present with more nevi than normal, and the tendency to dysplastic transformation is significantly higher. The association with neural tumor may be higher, and more pancreatic cancers are associated.

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Anesthetic considerations will be determined by the presence of brain tumor and its type. Raised intracranial pressure, vascularization (e.g., medulloblastoma), and seizures. Anesthesia may be challenging when isolated limb perfusion is indicated to prevent cardiovascular instability, called “distributive shock", which is caused by the injection of tumor necrosis factor.

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No known specific implications with this condition.

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All of the following conditions are allelic variants of CDKN2A mutation.

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Melanoma-Pancreatic Cancer Syndrome: Atypical familial multiple mole that can be caused by mutations in the gene encoding cyclin-dependent kinase inhibitor-2A (CDKN2A). Standard anesthetic considerations.

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Cutaneous Malignant Melanoma: Mostly associated with fair complexion, blue eyes, multiple ephelides, and familial history of melanoma.

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Li-Fraumeni Syndrome (LFS): Childhood sarcoma that usually is family related. This association often involves brain tumors, osteosarcoma, leukemia, and adrenocortical carcinoma. Precautions before anesthesia should include proper evaluation of intracranial pathology, intracranial pressure, and cortisol functions.

Fraser M, Marentay P, Bertha R: A collaborative approach to isolated limb perfusion. AORN J 70:642, 649, 651, 1999.
Greene MH: The genetics of hereditary melanoma and nevi. 1998 Update. Cancer 86(11 suppl):2464, 1999.

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