Open Access Case Report

Genetic alterations in a primary medullary thyroid carcinoma and its lymph node metastasis in a patient with 15 years follow-up

Beatriz González-Yebra13, Raúl Peralta15, Ana Lilia González2, Marco Antonio Ayala-Garcia3, María E Medrano Ortiz de Zarate4 and Mauricio Salcedo5*

Author affiliations

1 Departamento de Medicina y Nutrición, División de Ciencias de la Salud, Campus León, Universidad de Guanajuato, Guanajuato, Mexico

2 Departamento de Ciencias Aplicadas al Trabajo, División de Ciencias de la Salud, Campus León, Universidad de Guanajuato, Guanajuato, Mexico

3 Hospital Regional de Alta Especialidad del Bajío, León, Guanajuato, México

4 Departamento de Endocrinología, Hospital de Oncología, Centro Médico Nacional Siglo XXI-IMSS, México, DF, México

5 Laboratorio de Oncología Genómica, Unidad de Investigación Médica en Enfermedades Oncológicas, Hospital de Oncología, CMN SXXI-IMSS, Av. Cuauhtémoc 330, Col. Doctores, México, DF 06720, Mexico

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Citation and License

Diagnostic Pathology 2012, 7:63  doi:10.1186/1746-1596-7-63

Published: 7 June 2012

Abstract

Background

Association between DNA alterations and clinical parameters as recurrence, survival or prognosis has been found in a variety of tumors. A clear association between Medullary Thyroid Carcinoma (MTC) and RET oncogene mutation has been accepted. Specifically M918T RET mutation represents the main genetic event in most cases of sporadic MTC (SMTC) and limited chromosomal alterations analyses have been performed.

Methods

In the present work, a comparative genomic hybridization (CGH) study was performed using DNA from a primary tumor in a M918T RET mutation-positive SMTC patient and from its lymph node metastasis to investigate additional genetic alterations. We studied a patient with 15 years of follow-up and persistence of disease, confirmed by periodical elevated serum calcitonin (CT) levels.

Results

Only 3 chromosomal imbalances were identified in the primary tumor, gain of 18p, and loss of 6p and 16p region, whereas 25 chromosomal imbalances were identified in the metastasis (9 gains and 16 losses).

Conclusion

The chromosomal changes 6p-, 16p-, 18p + could determine in part the oncogenic phenotype in the primary M918T RET positive tumor and probably related to persistence of high serum CT levels in this patient. The additional chromosomal changes observed could be related to the metastasis phenotype. We suggest that some genes mapped at 6p, 16p and 18p chromosomal regions, could act as genes associated to cancer and could be related to persistent SMTC and good prognosis.

Virtual slides

The virtual slide(s) for this article can be found here: http://www.diagnosticpathology.diagnomx.eu/vs/1720753793691097 webcite

Keywords:
Sporadic MTC; M918T RET mutation; Chromosomal alterations