| Title |
Medullary thyroid cancer, leukemia, mesothelioma and meningioma associated with germline APC and RASAL1 variants: a new syndrome?
|
|---|---|
| Published in |
Hormones international journal of endocrinology and metabolism, December 2017
|
| DOI | 10.14310/horm.2002.1763 |
| Pubmed ID | |
| 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. |
X Demographics
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Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 2 | 100% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 2 | 100% |
Mendeley readers
The data shown below were compiled from readership statistics for 21 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 21 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Researcher | 3 | 14% |
| Librarian | 2 | 10% |
| Student > Doctoral Student | 2 | 10% |
| Student > Ph. D. Student | 2 | 10% |
| Professor | 1 | 5% |
| Other | 2 | 10% |
| Unknown | 9 | 43% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 6 | 29% |
| Biochemistry, Genetics and Molecular Biology | 2 | 10% |
| Nursing and Health Professions | 1 | 5% |
| Social Sciences | 1 | 5% |
| Neuroscience | 1 | 5% |
| Other | 0 | 0% |
| Unknown | 10 | 48% |
Attention Score in Context
This research output has an Altmetric Attention Score of 1. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 07 September 2018.
All research outputs
#19,951,180
of 25,382,440 outputs
Outputs from Hormones international journal of endocrinology and metabolism
#315
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Outputs of similar age
#324,964
of 449,137 outputs
Outputs of similar age from Hormones international journal of endocrinology and metabolism
#8
of 13 outputs
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