Immunohistochemistry or Molecular Analysis: Which Method Is Better for Subtyping Craniopharyngioma?

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Immunohistochemistry or Molecular Analysis: Which Method Is Better for Subtyping Craniopharyngioma? Noriaki Fukuhara 1,2,3 & Takeo Iwata 4,5 & Naoko Inoshita 1,2,3,6 & Katsuhiko Yoshimoto 5 & Masanobu Kitagawa 2 & Hirokazu Fukuhara 1 & Keita Tatsushima 7 & Mitsuo Yamaguchi-Okada 1 & Akira Takeshita 3,7 & Junko Ito 8 & Yasuhiro Takeuchi 3,7 & Shozo Yamada 1,3,9 & Hiroshi Nishioka 1,3 Accepted: 29 July 2020 # Springer Science+Business Media, LLC, part of Springer Nature 2020

Abstract Craniopharyngioma (CP) is mainly classified into two pathological subtypes: adamantinomatous (ACP) and papillary (PCP). CTNNB1 (β-catenin) mutations are detected in ACPs, and the BRAF V600E mutation is detected in PCPs. However, genetic analysis is not always possible in general medical practice. In this study, we investigated whether immunohistochemistry could replace genetic analysis as an aid in subtype diagnosis. Here, 38 CP patients who had undergone their first tumor resection were included. Among the 38 cases, 22 were morphologically diagnosed as ACP, 10 cases were diagnosed as PCP, and six cases were diagnosed as undetermined CP that were morphologically difficult to classify as either ACP or PCP. Results of immunohistochemistry and genetic analysis and clinical features were compared. Based on the immunohistochemistry, 26 (22 ACPs and four undetermined CPs) showed nuclear β-catenin expression, 11 (nine PCPs and two undetermined CPs) exhibited positive BRAF V600E immunostaining, and one PCP showed membranous β-catenin expression and negative BRAF V600E immunostaining. Among the 26 nuclear β-catenin expression cases, 11 had CTNNB1 mutations; however, 15 cases had mutations of neither CTNNB1 nor BRAF V600E. All 11 BRAF V600E immunopositive cases had BRAF V600E mutations. When comparing clinical features, pediatric patients and those with tumor calcification and less solid components on MRI more commonly had nuclear βcatenin expression tumors than BRAF V600E immunopositive tumors, reflecting the differences in clinical features between ACP and PCP. Accordingly, immunohistochemistry can replace genetic analysis as an aid to determine the subtype diagnosis of CP in general medical practice. Keywords Craniopharyngioma . CTNNB1 . β-Catenin . BRAF V600E

Introduction Craniopharyngioma (CP) is mainly classified into two pathological subtypes: adamantinomatous craniopharyngioma (ACP) and papillary craniopharyngioma (PCP). CTNNB1 (β-catenin) mutations have previously been detected in ACP * Naoko Inoshita [email protected] 1

Department of Hypothalamic and Pituitary Surgery, Toranomon Hospital, Tokyo, Japan

2

Department of Comprehensive Pathology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Tokyo, Japan

3

Okinaka Memorial Institute for Medical Research, Tokyo, Japan

4

Department of Functional Morphology, Niigata University of Pharmacy and Applied life Sciences, Niigata, Japan

[1], and the BRAF V600E mutation has been detected in 100% of PCPs by exome sequencing [2]. These reports indicate t