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Prognostic significance of 1p36 locus deletion in adenoid cystic carcinoma of the salivary glands

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Šteiner, P, Andreasen, S, Grossmann, P, Hauer, L, Vaněček, T, Miesbauerová, M, Santana, T, Kiss, K, Slouka, D & Skálová, A 2018, 'Prognostic significance of 1p36 locus deletion in adenoid cystic carcinoma of the salivary glands' Virchows Archiv : an international journal of pathology, bind 473, nr. 4, s. 471-480. https://doi.org/10.1007/s00428-018-2349-6

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Author

Šteiner, Petr ; Andreasen, Simon ; Grossmann, Petr ; Hauer, Lukáš ; Vaněček, Tomáš ; Miesbauerová, Markéta ; Santana, Thalita ; Kiss, Katalin ; Slouka, David ; Skálová, Alena. / Prognostic significance of 1p36 locus deletion in adenoid cystic carcinoma of the salivary glands. I: Virchows Archiv : an international journal of pathology. 2018 ; Bind 473, Nr. 4. s. 471-480.

Bibtex

@article{664feec12ba54f42ad0b33791666c105,
title = "Prognostic significance of 1p36 locus deletion in adenoid cystic carcinoma of the salivary glands",
abstract = "Adenoid cystic carcinoma (AdCC) of the salivary glands is characterized by MYB-NFIB or MYBL1-NFIB fusion, prolonged but relentlessly progressive clinical course with frequent recurrences, and development of distant metastasis resulting in high long-term mortality. Currently, no effective therapy is available for patients with advanced non-resectable and/or metastatic disease. Complicating the clinical management of this patient group is the lack of prognostic markers. The purpose of this study is to investigate the prognostic value of 1p36 loss in patients with AdCC. The presence of 1p36 deletion and gene fusions involving the MYB, NFIB, and MYBL1 genes in a cohort of 93 salivary gland AdCCs was studied using fluorescence in situ hybridization. These results were statistically correlated with clinical data and outcome. Deletion of 1p36 in AdCC was identified in 13 of 85 analyzable cases (15.29{\%}). MYB-NFIB fusion was detected in 57/85 (67.1{\%}), MYBL1-NFIB fusion in 12/85 (14.1{\%}), MYB-X fusion in 4/85 (4.7{\%}), MYBL1-X in 4/85 (4.7{\%}), and NFIB-X in 2/85 (2.4{\%}) of AdCC cases. None of the 1p36-deleted samples showed MYBL1 rearrangement. Statistical analysis demonstrated a significant correlation between 1p36 deletion and advanced tumor stage and solid histology (p = 0.0061 and 0.0007, respectively). Kaplan-Meier survival curves showed statistically significant correlations between 1p36 deletion and decreased overall survival, disease-specific survival, recurrence-free interval, and recurrence-free survival, all of which were maintained in multivariate analysis. We demonstrate that 1p36 deletion can serve as an indicator of unfavorable outcome of patients with salivary gland AdCC.",
keywords = "Adolescent, Adult, Aged, Aged, 80 and over, Biomarkers, Tumor/genetics, Carcinoma, Adenoid Cystic/genetics, Chromosome Deletion, Chromosomes, Human, Pair 1, Disease Progression, Disease-Free Survival, Gene Fusion, Genetic Predisposition to Disease, Humans, Immunohistochemistry, In Situ Hybridization, Fluorescence, Kaplan-Meier Estimate, Male, Middle Aged, NFI Transcription Factors/genetics, Neoplasm Grading, Neoplasm Recurrence, Local, Neoplasm Staging, Oncogene Proteins, Fusion/genetics, Phenotype, Proportional Hazards Models, Proto-Oncogene Proteins/genetics, Risk Factors, Salivary Gland Neoplasms/genetics, Time Factors, Trans-Activators/genetics, Treatment Outcome, Young Adult",
author = "Petr Šteiner and Simon Andreasen and Petr Grossmann and Luk{\'a}š Hauer and Tom{\'a}š Vaněček and Mark{\'e}ta Miesbauerov{\'a} and Thalita Santana and Katalin Kiss and David Slouka and Alena Sk{\'a}lov{\'a}",
year = "2018",
month = "10",
doi = "10.1007/s00428-018-2349-6",
language = "English",
volume = "473",
pages = "471--480",
journal = "Virchows Archiv - A Pathological Anatomy and Histopathology",
issn = "0945-6317",
publisher = "Springer",
number = "4",

}

RIS

TY - JOUR

T1 - Prognostic significance of 1p36 locus deletion in adenoid cystic carcinoma of the salivary glands

AU - Šteiner, Petr

AU - Andreasen, Simon

AU - Grossmann, Petr

AU - Hauer, Lukáš

AU - Vaněček, Tomáš

AU - Miesbauerová, Markéta

AU - Santana, Thalita

AU - Kiss, Katalin

AU - Slouka, David

AU - Skálová, Alena

PY - 2018/10

Y1 - 2018/10

N2 - Adenoid cystic carcinoma (AdCC) of the salivary glands is characterized by MYB-NFIB or MYBL1-NFIB fusion, prolonged but relentlessly progressive clinical course with frequent recurrences, and development of distant metastasis resulting in high long-term mortality. Currently, no effective therapy is available for patients with advanced non-resectable and/or metastatic disease. Complicating the clinical management of this patient group is the lack of prognostic markers. The purpose of this study is to investigate the prognostic value of 1p36 loss in patients with AdCC. The presence of 1p36 deletion and gene fusions involving the MYB, NFIB, and MYBL1 genes in a cohort of 93 salivary gland AdCCs was studied using fluorescence in situ hybridization. These results were statistically correlated with clinical data and outcome. Deletion of 1p36 in AdCC was identified in 13 of 85 analyzable cases (15.29%). MYB-NFIB fusion was detected in 57/85 (67.1%), MYBL1-NFIB fusion in 12/85 (14.1%), MYB-X fusion in 4/85 (4.7%), MYBL1-X in 4/85 (4.7%), and NFIB-X in 2/85 (2.4%) of AdCC cases. None of the 1p36-deleted samples showed MYBL1 rearrangement. Statistical analysis demonstrated a significant correlation between 1p36 deletion and advanced tumor stage and solid histology (p = 0.0061 and 0.0007, respectively). Kaplan-Meier survival curves showed statistically significant correlations between 1p36 deletion and decreased overall survival, disease-specific survival, recurrence-free interval, and recurrence-free survival, all of which were maintained in multivariate analysis. We demonstrate that 1p36 deletion can serve as an indicator of unfavorable outcome of patients with salivary gland AdCC.

AB - Adenoid cystic carcinoma (AdCC) of the salivary glands is characterized by MYB-NFIB or MYBL1-NFIB fusion, prolonged but relentlessly progressive clinical course with frequent recurrences, and development of distant metastasis resulting in high long-term mortality. Currently, no effective therapy is available for patients with advanced non-resectable and/or metastatic disease. Complicating the clinical management of this patient group is the lack of prognostic markers. The purpose of this study is to investigate the prognostic value of 1p36 loss in patients with AdCC. The presence of 1p36 deletion and gene fusions involving the MYB, NFIB, and MYBL1 genes in a cohort of 93 salivary gland AdCCs was studied using fluorescence in situ hybridization. These results were statistically correlated with clinical data and outcome. Deletion of 1p36 in AdCC was identified in 13 of 85 analyzable cases (15.29%). MYB-NFIB fusion was detected in 57/85 (67.1%), MYBL1-NFIB fusion in 12/85 (14.1%), MYB-X fusion in 4/85 (4.7%), MYBL1-X in 4/85 (4.7%), and NFIB-X in 2/85 (2.4%) of AdCC cases. None of the 1p36-deleted samples showed MYBL1 rearrangement. Statistical analysis demonstrated a significant correlation between 1p36 deletion and advanced tumor stage and solid histology (p = 0.0061 and 0.0007, respectively). Kaplan-Meier survival curves showed statistically significant correlations between 1p36 deletion and decreased overall survival, disease-specific survival, recurrence-free interval, and recurrence-free survival, all of which were maintained in multivariate analysis. We demonstrate that 1p36 deletion can serve as an indicator of unfavorable outcome of patients with salivary gland AdCC.

KW - Adolescent

KW - Adult

KW - Aged

KW - Aged, 80 and over

KW - Biomarkers, Tumor/genetics

KW - Carcinoma, Adenoid Cystic/genetics

KW - Chromosome Deletion

KW - Chromosomes, Human, Pair 1

KW - Disease Progression

KW - Disease-Free Survival

KW - Gene Fusion

KW - Genetic Predisposition to Disease

KW - Humans

KW - Immunohistochemistry

KW - In Situ Hybridization, Fluorescence

KW - Kaplan-Meier Estimate

KW - Male

KW - Middle Aged

KW - NFI Transcription Factors/genetics

KW - Neoplasm Grading

KW - Neoplasm Recurrence, Local

KW - Neoplasm Staging

KW - Oncogene Proteins, Fusion/genetics

KW - Phenotype

KW - Proportional Hazards Models

KW - Proto-Oncogene Proteins/genetics

KW - Risk Factors

KW - Salivary Gland Neoplasms/genetics

KW - Time Factors

KW - Trans-Activators/genetics

KW - Treatment Outcome

KW - Young Adult

U2 - 10.1007/s00428-018-2349-6

DO - 10.1007/s00428-018-2349-6

M3 - Journal article

VL - 473

SP - 471

EP - 480

JO - Virchows Archiv - A Pathological Anatomy and Histopathology

JF - Virchows Archiv - A Pathological Anatomy and Histopathology

SN - 0945-6317

IS - 4

ER -

ID: 56701824