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14-11-2023 | Retinoblastoma | ORIGINAL ARTICLE

Branchioma: immunohistochemical and molecular genetic study of 23 cases highlighting frequent loss of retinoblastoma 1 immunoexpression

Authors: Martina Bradová, Lester D. R. Thompson, Martin Hyrcza, Tomáš Vaněček, Petr Grossman, Michael Michal Jr., Veronika Hájková, Touraj Taheri, Niels Rupp, David Suster, Sunil Lakhani, Dimitar Hadži Nikolov, Radim Žalud, Alena Skálová, Michal Michal, Abbas Agaimy

Published in: Virchows Archiv | Issue 1/2024

Abstract

Branchioma is an uncommon benign neoplasm with an adult male predominance, typically occurring in the lower neck region. Different names have been used for this entity in the past (ectopic hamartomatous thymoma, branchial anlage mixed tumor, thymic anlage tumor, biphenotypic branchioma), but currently, the term branchioma has been widely accepted. Branchioma is composed of endodermal and mesodermal lineage derivatives, in particular epithelial islands, spindle cells, and mature adipose tissue without preexistent thymic tissue or evidence of thymic differentiation. Twenty-three branchiomas were evaluated morphologically. Eighteen cases with sufficient tissue were assessed by immunohistochemistry, next-generation sequencing (NGS) using the Illumina Oncology TS500 panel, and fluorescence in situ hybridization (FISH) using an RB1 dual-color probe. All cases showed a biphasic morphology of epithelial and spindle cells with intermingled fatty tissue. Carcinoma arising in branchioma was detected in three cases. The neoplastic cells showed strong AE1/3 immunolabeling (100%), while the spindle cells expressed CD34, p63, and SMA (100%); AR was detected in 40–100% of nuclei (mean, 47%) in 14 cases. Rb1 showed nuclear loss in ≥ 95% of neoplastic cells in 16 cases (89%), while two cases revealed retained expression in 10–20% of tumor cell nuclei. NGS revealed a variable spectrum of likely pathogenic variants (n = 5) or variants of unknown clinical significance (n = 6). Loss of Rb1 was detected by FISH in two cases. Recent developments support branchioma as a true neoplasm, most likely derived from the rudimental embryological structures of endoderm and mesoderm. Frequent Rb1 loss by immunohistochemistry and heterozygous deletion by FISH is a real pitfall and potential confusion with other Rb1-deficient head and neck neoplasms (i.e., spindle cell lipoma), especially in small biopsy specimens.

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Title: Branchioma: immunohistochemical and molecular genetic study of 23 cases highlighting frequent loss of retinoblastoma 1 immunoexpression
Authors: Martina Bradová
Lester D. R. Thompson
Martin Hyrcza
Tomáš Vaněček
Petr Grossman
Michael Michal Jr.
Veronika Hájková
Touraj Taheri
Niels Rupp
David Suster
Sunil Lakhani
Dimitar Hadži Nikolov
Radim Žalud
Alena Skálová
Michal Michal
Abbas Agaimy
Publication date: 14-11-2023
Publisher: Springer Berlin Heidelberg
Keywords: Retinoblastoma
Retinoblastoma
Fluorescence in Situ Hybridization
Thymoma
Thymoma
Published in: Virchows Archiv / Issue 1/2024
Print ISSN: 0945-6317
Electronic ISSN: 1432-2307
DOI: https://doi.org/10.1007/s00428-023-03697-1

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Branchioma: immunohistochemical and molecular genetic study of 23 cases highlighting frequent loss of retinoblastoma 1 immunoexpression

Abstract

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