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Targeted BRAF and CTNNB1 next-generation sequencing allows proper classification of nonadenomatous lesions of the sellar region in samples with limiting amounts of lesional cells

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An Erratum to this article was published on 08 October 2015

Abstract

Purpose

To assess the role of high sensitivity next-generation sequencing (NGS) of CTNNB1 for the diagnosis of adamantinomatous craniopharyngiomas (aCPs) and of BRAF for that of papillary CPs (pCPs) in routinely processed surgical samples of nonadenomatous sellar lesions.

Methods

Forty-five cases of patients operated for nonadenomatous masses of the sellar region between 2004 and 2014 were retrieved from the files of the Anatomic Pathology unit of the Bellaria Hospital in Bologna, Italy. BRAF and CTNNB1 mutation status was analyzed by NGS in samples smaller than 1 cm3 and histological re-evaluation was performed on all cases.

Results

CTNNB1 mutation analysis showed a sensitivity of 86.7 % and a specificity of 96.2 % for the diagnosis of aCPs. The specificity increased to 100 % considering that in one case, initially classified as a non-CP lesion (xanthogranuloma), the identification of a CTNNB1 S47R lead to histological re-evaluation and reclassification of the lesion as aCP. BRAF mutation analysis had a sensitivity of 76.9 % and a specificity of 96.4 % for the diagnosis of pCPs. The specificity increased to 100 % considering that in one case, initially classified as a Rathke cyst, the identification of BRAF V600E lead to histological re-evaluation and reclassification of the lesion as pCP.

Conclusions

This study confirms the diagnostic relevance of the molecular alterations recently identified in aCPs and pCPs and shows how the identification of BRAF and CTNNB1 mutations can be instrumental for the proper classification of samples that contain limiting amounts of diagnostic lesional tissue.

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Authors and Affiliations

  1. Department of Biomedical and NeuroMotor Sciences (DiBiNeM), Anatomic Pathology, Bellaria Hospital, University of Bologna, Bologna, Italy

    Gianluca Marucci

  2. Department of Experimental, Diagnostic and Specialty Medicine - DIMES, Anatomic Pathology, Bellaria Hospital, University of Bologna, Bologna, Italy

    Dario de Biase & Giovanni Tallini

  3. Center of Surgery for Pituitary Tumors and Endoscopic Skull Base Surgery, Bologna, Italy

    Matteo Zoli, Diego Mazzatenta & Giorgio Frank

  4. IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy

    Marco Faustini-Fustini

  5. Department of Neuroradiology, IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy

    Antonella Bacci

  6. ENT Department, Azienda USL, Bologna, Italy

    Ernesto Pasquini

  7. Department of Pharmacy and Biotechnology (FaBiT), University of Bologna, Molecular Biology Unit, Bellaria Hospital, Bologna, Italy

    Michela Visani

Authors
  1. Gianluca Marucci
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  2. Dario de Biase
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  3. Matteo Zoli
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  4. Marco Faustini-Fustini
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  5. Antonella Bacci
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  6. Ernesto Pasquini
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  7. Michela Visani
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  8. Diego Mazzatenta
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  9. Giorgio Frank
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  10. Giovanni Tallini
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Correspondence to Gianluca Marucci.

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The authors declare that they have no conflict of interest.

Ethical standard

All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.

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Marucci, G., de Biase, D., Zoli, M. et al. Targeted BRAF and CTNNB1 next-generation sequencing allows proper classification of nonadenomatous lesions of the sellar region in samples with limiting amounts of lesional cells. Pituitary 18, 905–911 (2015). https://doi.org/10.1007/s11102-015-0669-y

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  • DOI: https://doi.org/10.1007/s11102-015-0669-y

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