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Segregation and expression analyses of hyaluronan‐binding protein 2 (HABP2): insights from a large series of familial non‐medullary thyroid cancers and literature review
Author(s) -
Colombo Carla,
Muzza Marina,
Proverbio Maria Carla,
Ercoli Giulia,
Perrino Michela,
Cirello Valentina,
Vicentini Leonardo,
Ferrero Stefano,
Fugazzola Laura
Publication year - 2017
Publication title -
clinical endocrinology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.055
H-Index - 147
eISSN - 1365-2265
pISSN - 0300-0664
DOI - 10.1111/cen.13316
Subject(s) - thyroid cancer , thyroid , biology , gene expression , gene , immunohistochemistry , genotyping , medullary thyroid cancer , thyroid carcinoma , papillary thyroid cancer , cancer research , medicine , pathology , endocrinology , genetics , genotype
Summary Introduction Recently, the G534E variant of the HABP 2 gene was reported as the underlying genetic defect in a large kindred with nonsyndromic familial nonmedullary thyroid cancer ( FNMTC ). Nevertheless, this postulated role was not confirmed in additional cohorts. Contrasting data are also available on HABP 2 expression in the thyroid. Objectives To investigate HABP 2 as a potential susceptibility gene in a large series of 27 unrelated families with FNMTC and to test its expression in thyroid tumour and matched normal tissues. Results Three of the 27 FNMTC families (11·1%) carried the HABP 2 G534E variant. The genotyping of these families showed that HABP 2 G534E does not segregate with cancer. Indeed, affected individuals not carrying HABP 2 G534E were identified, and the variant was present also in members without thyroid cancer. HABP 2 mRNA had a very variable expression in tissues from FNMTC , sporadic papillary thyroid cancers ( PTC s) or contralateral normal tissues, by either nonquantitative or quantitative RT ‐polymerase chain reaction. In almost all cases, the gene appeared down‐ or up‐regulated in tumours with respect to the corresponding normal tissue. At immunohistochemistry, HABP 2 was expressed in both tumour and matched control tissues, without differences between sporadic and familial cases. Conclusions This study on a wide series of FNMTC indicates that the HABP 2 G534E variant is frequent, but does not segregate with the disease. Nevertheless, the dysregulation of HABP 2 expression found in either sporadic or familial PTC s or normal thyroid tissues is consistent with similar findings in other malignancies and could indicate a role of this gene also in thyroid cancer.