SMARCA4-associated schwannomatosis

Fiona Chan-Pak-Choon^{1

2}, Carla Roca³, Anne-Sophie Chong^{1

3}, Clara Nogué³, Sonja Dahlum⁴, Rachel Austin⁵, Helen Mar Fan⁵, Karin Y van Spaendonck-Zwarts^{5

6}, Neil K Lambie⁷, Thomas Robertson⁸, Reiner Siebert⁴, Barbara Rivera^{2

3

9}, William D Foulkes^{10

11

12

13}

Affiliations

¹ Department of Human Genetics, McGill University, Montreal, QC, Canada.
² Lady Davis Institute and Segal Cancer Centre, Jewish General Hospital, Montreal, QC, Canada.
³ Molecular Mechanisms and Experimental Therapy in Oncology Program, Bellvitge Biomedical Research Institute (IDIBELL), L'Hospitalet de Llobregat, Barcelona, Spain.
⁴ Institute of Human Genetics, Ulm University and Ulm University Medical Centre, Ulm, Germany.
⁵ Genetic Health Queensland, Royal Brisbane and Women's Hospital, Herston, QLD, Australia.
⁶ Department of Human Genetics, Amsterdam University Medical Centre, Amsterdam, The Netherlands.
⁷ Anatomical Pathology, Canterbury Health Laboratories, Christchurch, New Zealand.
⁸ Pathology Queensland, Faculty of Medicine, Royal Brisbane and Women's Hospital, Herston, QLD, Australia.
⁹ Gerald Bronfman Department of Oncology, McGill University, Montreal, QC, Canada.
¹⁰ Department of Human Genetics, McGill University, Montreal, QC, Canada. william.foulkes@mcgill.ca.
¹¹ Lady Davis Institute and Segal Cancer Centre, Jewish General Hospital, Montreal, QC, Canada. william.foulkes@mcgill.ca.
¹² Gerald Bronfman Department of Oncology, McGill University, Montreal, QC, Canada. william.foulkes@mcgill.ca.
¹³ Research Institute of the McGill University Health Centre, McGill University, Montreal, QC, Canada. william.foulkes@mcgill.ca.

PMID: 36786840
DOI: 10.1007/s00401-023-02546-4

SMARCA4-associated schwannomatosis

Fiona Chan-Pak-Choon et al. Acta Neuropathol. 2023 Apr.

. 2023 Apr;145(4):505-507.

doi: 10.1007/s00401-023-02546-4. Epub 2023 Feb 14.

Authors

Affiliations

¹ Department of Human Genetics, McGill University, Montreal, QC, Canada.
² Lady Davis Institute and Segal Cancer Centre, Jewish General Hospital, Montreal, QC, Canada.
³ Molecular Mechanisms and Experimental Therapy in Oncology Program, Bellvitge Biomedical Research Institute (IDIBELL), L'Hospitalet de Llobregat, Barcelona, Spain.
⁴ Institute of Human Genetics, Ulm University and Ulm University Medical Centre, Ulm, Germany.
⁵ Genetic Health Queensland, Royal Brisbane and Women's Hospital, Herston, QLD, Australia.
⁶ Department of Human Genetics, Amsterdam University Medical Centre, Amsterdam, The Netherlands.
⁷ Anatomical Pathology, Canterbury Health Laboratories, Christchurch, New Zealand.
⁸ Pathology Queensland, Faculty of Medicine, Royal Brisbane and Women's Hospital, Herston, QLD, Australia.
⁹ Gerald Bronfman Department of Oncology, McGill University, Montreal, QC, Canada.
¹⁰ Department of Human Genetics, McGill University, Montreal, QC, Canada. william.foulkes@mcgill.ca.
¹¹ Lady Davis Institute and Segal Cancer Centre, Jewish General Hospital, Montreal, QC, Canada. william.foulkes@mcgill.ca.
¹² Gerald Bronfman Department of Oncology, McGill University, Montreal, QC, Canada. william.foulkes@mcgill.ca.
¹³ Research Institute of the McGill University Health Centre, McGill University, Montreal, QC, Canada. william.foulkes@mcgill.ca.

PMID: 36786840
DOI: 10.1007/s00401-023-02546-4

No abstract available

Keywords: BRG1; Chromosome 22q; SMARCA4; SWI/SNF; Schwannomatosis.

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References

1. Agaimy A, Foulkes WD (2018) Hereditary SWI/SNF complex deficiency syndromes. Semin Diagn Pathol 35(3):193–198. https://doi.org/10.1053/j.semdp.2018.01.002 - DOI - PubMed
1. Bellini A, Bessoltane-Bentahar N, Bhalshankar J, Clement N, Raynal V, Baulande S et al (2019) Study of chromatin remodeling genes implicates SMARCA4 as a putative player in oncogenesis in neuroblastoma. Int J Cancer 145(10):2781–2791. https://doi.org/10.1002/ijc.32361 - DOI - PubMed - PMC
1. de Kock L, Fahiminiya S, Fiset PO, Astigarraga I, Nguyen VH, Albrecht S et al (2018) Infantile pulmonary teratoid tumor. N Engl J Med 378(23):2238–2240. https://doi.org/10.1056/NEJMc1803354 - DOI - PubMed
1. Errichiello E, Mustafa N, Vetro A, Notarangelo LD, de Jonge H, Rinaldi B et al (2017) SMARCA4 inactivating mutations cause concomitant Coffin-Siris syndrome, microphthalmia and small-cell carcinoma of the ovary hypercalcaemic type. J Pathol 243(1):9–15. https://doi.org/10.1002/path.4926 - DOI - PubMed - PMC
1. Fahiminiya S, Witkowski L, Nadaf J, Carrot-Zhang J, Goudie C, Hasselblatt M et al (2016) Molecular analyses reveal close similarities between small cell carcinoma of the ovary, hypercalcemic type and atypical teratoid/rhabdoid tumor. Oncotarget 7(2):1732–1740. https://doi.org/10.18632/oncotarget.6459 - DOI - PubMed

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SMARCA4-associated schwannomatosis

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