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    Unusual Cancers of Childhood Treatment (PDQ®): Treatment - Health Professional Information [NCI] - Other Rare Childhood Cancers

    Other rare childhood cancers include multiple endocrine neoplasia syndromes and Carney complex, skin cancer, chordoma, and cancer of unknown primary site. The prognosis, diagnosis, classification, and treatment of these other rare childhood cancers are discussed below. It must be emphasized that these cancers are seen very infrequently in patients younger than 15 years, and most of the evidence is derived from case series.

    Multiple Endocrine Neoplasia (MEN) Syndromes and Carney Complex

    MEN syndromes are familial disorders that are characterized by neoplastic changes that affect multiple endocrine organs.[1] Changes may include hyperplasia, benign adenomas, and carcinomas. There are two main types of MEN syndrome: type 1 and type 2. MEN type 2 can be further subdivided into three subtypes: type 2A, type 2B, and familial medullary thyroid carcinoma. (Refer to the PDQ summary on Genetics of Endocrine and Neuroendocrine Neoplasias for more information about MEN syndromes.)

    Clinical presentation and diagnostic evaluation of MEN syndromes

    The most salient clinical and genetic alterations of the MEN syndromes are shown in Table 5.

    Table 5. MEN Syndromes with Associated Clinical and Genetic Alterations

    Syndrome Clinical Features/Tumors Genetic Alterations
    MEN type 1: Werner syndrome[2] Parathyroid 11q13 (MEN1 gene)
    Pancreatic islets: Gastrinoma 11q13 (MEN1 gene)
    Pituitary: Prolactinoma 11q13 (MEN1 gene)
    Other associated tumors: Carcinoid: bronchial and thymic 11q13 (MEN1 gene)
    MEN type 2A: Sipple syndrome Medullary thyroid carcinoma 10q11.2 (RET gene)
    Parathyroid gland
    MEN type 2B Medullary thyroid carcinoma 10q11.2 (RET gene)
    Mucosal neuromas
    Intestinal ganglioneuromatosis
    Marfanoid habitus
    Familial medullary thyroid carcinoma Medullary thyroid carcinoma 10q11.2 (RET gene)
    • MEN 1 syndrome: MEN 1 syndrome, also referred to as Werner syndrome, is an autosomal dominant disorder characterized by the presence of tumors in the parathyroid, pancreatic islet cells, and anterior pituitary. Diagnosis of this syndrome should be considered when two of the three endocrine tumors listed in the table above are present. Less common tumors associated with this syndrome include adrenocortical tumors, carcinoid tumors, lipomas, angiofibromas, and collagenomas. The first manifestation of the disease in 90% of patients is hypercalcemia; the most common cause of morbidity and mortality in these patients is the development of gastrinomas, leading to Zollinger-Ellison syndrome.[2,3]

      Germline mutations of the MEN1 gene located on chromosome 11q13 are found in 70% to 90% of patients; however, this gene has also been shown to be frequently inactivated in sporadic tumors.[4] Mutation testing should be combined with clinical screening for patients and family members with proven at-risk MEN 1 syndrome.[5] It is recommended that screening for patients with MEN 1 syndrome begin by the age of 5 years and continue for life. The number of tests or biochemical screening is age specific and may include yearly serum calcium, parathyroid hormone, gastrin, glucagon, secretin, proinsulin, chromogranin A, prolactin, and IGF-1. Radiologic screening should include a magnetic resonance imaging of the brain and computed tomography (CT) of the abdomen every 1 to 3 years.[6]

    • MEN 2A and 2B syndromes:

      A germline activating mutation in the RET oncogene (a receptor tyrosine kinase) on chromosome 10q11.2 is responsible for the uncontrolled growth of cells in medullary thyroid carcinoma associated with MEN 2A and MEN 2B syndromes.[7,8,9]

      • MEN 2A is characterized by the presence of two or more endocrine tumors (see Table 6) in an individual or in close relatives.[10]RET mutations in these patients are usually confined to exons 10 and 11.
      • MEN 2B is characterized by medullary thyroid carcinomas, parathyroid hyperplasias, adenomas, pheochromocytomas, mucosal neuromas, and ganglioneuromas.[10,11,12] The medullary thyroid carcinomas that develop in these patients are extremely aggressive. More than 95% of mutations in these patients are confined to codon 918 in exon 16, causing receptor autophosphorylation and activation.[13] Patients also have medullated corneal nerve fibers, distinctive faces with enlarged lips, and an asthenic Marfanoid body habitus. A pentagastrin stimulation test can be used to detect the presence of medullary thyroid carcinoma in such patients, although management of patients is driven primarily by the results of genetic analysis for RET mutations.[13,14]

      Guidelines for genetic testing of suspected patients with MEN 2 syndrome and the correlations between the type of mutation and the risk levels of aggressiveness of medullary thyroid cancer, have been published.[14,15]

    • Familial Medullary Thyroid Carcinoma: Familial medullary thyroid carcinoma is diagnosed in families with medullary thyroid carcinoma in the absence of pheochromocytoma or parathyroid adenoma/hyperplasia. RET mutations in exons 10, 11, 13, and 14 account for most cases. (See Table 6.)
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