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

Gianluca Marucci, Dario de Biase, Matteo Zoli, Marco Faustini-Fustini, Antonella Bacci, Ernesto Pasquini, Michela Visani, Diego Mazzatenta, Giorgio Frank, Giovanni Tallini

Research output: Contribution to journalArticle

16 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)905-911
Number of pages7
JournalPituitary
Volume18
Issue number6
DOIs
Publication statusPublished - Jul 9 2015

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Craniopharyngioma
Mutation
Hospital Units
Molecular Pathology
Italy
Cysts
Pathology

Keywords

  • Adamantinomatous craniopharyngioma
  • Beta-catenin
  • BRAF
  • CTNNB1
  • Papillary craniopharyngioma
  • Rathke cleft cyst

ASJC Scopus subject areas

  • Endocrinology
  • Endocrinology, Diabetes and Metabolism

Cite this

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. / Marucci, Gianluca; de Biase, Dario; Zoli, Matteo; Faustini-Fustini, Marco; Bacci, Antonella; Pasquini, Ernesto; Visani, Michela; Mazzatenta, Diego; Frank, Giorgio; Tallini, Giovanni.

In: Pituitary, Vol. 18, No. 6, 09.07.2015, p. 905-911.

Research output: Contribution to journalArticle

Marucci, Gianluca ; de Biase, Dario ; Zoli, Matteo ; Faustini-Fustini, Marco ; Bacci, Antonella ; Pasquini, Ernesto ; Visani, Michela ; Mazzatenta, Diego ; Frank, Giorgio ; Tallini, Giovanni. / 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. In: Pituitary. 2015 ; Vol. 18, No. 6. pp. 905-911.
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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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T1 - 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

AU - Marucci, Gianluca

AU - de Biase, Dario

AU - Zoli, Matteo

AU - Faustini-Fustini, Marco

AU - Bacci, Antonella

AU - Pasquini, Ernesto

AU - Visani, Michela

AU - Mazzatenta, Diego

AU - Frank, Giorgio

AU - Tallini, Giovanni

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