Medullary thyroid cancer, leukemia, mesothelioma and meningioma associated with germline APC and RASAL1 variants: a new syndrome? View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2017-10

AUTHORS

Anna Angelousi, Nikolaos Settas, Fabio R. Faucz, Charalampos Lyssikatos, Martha Quezado, Narjes Nasiri-Ansari, Constantine A. Stratakis, Eva Kassi

ABSTRACT

Medullary thyroid carcinoma (MTC) is a neuroendocrine tumor hereditary in 35% of cases. The most common syndromic form is in the context of the multiple endocrine neoplasia type 2 (MEN 2) syndromes in association with other tumors and due to germline RET mutations. We describe a 57-year-old female patient diagnosed with sporadic MTC. The patient had a history of other neoplasias, such as acute myeloid leukemia, for which she had received chemotherapy, and two other solid tumors, peritoneal mesothelioma and meningioma. Genetic analyses were carried out including whole exome and Sanger sequencing (WES and SS) and loss-of-heterozygosity (LOH) testing for the respective loci. Immunohistochemistry (IHC) was used for the detection of proteins of interest. WES showed two germline variants in the APC and RASAL1 genes confirmed by SS. In MTC tissue only there was a RETvariant identified by SS; germline studies did not show any RETsequence changes. The pattern of tumors in this patient is unusual for either one of the APC- orRASAL1-associated neoplasms and her non-MEN 2-associated MTC contained a RET variant like other sporadic MTCs. As in other patients with more than one genetic variant predisposing to tumors, it is possible that this case represents a unique association. More... »

PAGES

423-428

References to SciGraph publications

  • 2011-04. Familial thyroid cancer: a review in MODERN PATHOLOGY
  • 2003-08. Medullary thyroid carcinoma in CURRENT TREATMENT OPTIONS IN ONCOLOGY
  • 2000. Medullary Thyroid Carcinoma in THYROID CANCER
  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.14310/horm.2002.1763

    DOI

    http://dx.doi.org/10.14310/horm.2002.1763

    DIMENSIONS

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    PUBMED

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