Burkitt lymphoma as fourth neoplasia in a patient affected by Cowden Syndrome with a novel PTEN germline pathogenic variant

Main Article Content

Eugenio Galli
Catholic University of Sacred Heart
http://orcid.org/0000-0002-2839-916X
Francesco D’Alò
Università Cattolica Sacro Cuore, Istituto di Ematologia. Fondazione Policlinico Universitario A. Gemelli, IRCSS, Ematologia e Trapianto di cellule staminali emopoietiche

Annarosa Cuccaro
Fondazione Policlinico Universitario A. Gemelli, IRCSS, Ematologia e Trapianto di cellule staminali emopoietiche

Eleonora Alma
Università Cattolica Sacro Cuore, Istituto di Ematologia. Fondazione Policlinico Universitario A. Gemelli, IRCSS, Ematologia e Trapianto di cellule staminali emopoietiche

Elena Maiolo
Università Cattolica Sacro Cuore, Istituto di Ematologia. Fondazione Policlinico Universitario A. Gemelli, IRCSS, Ematologia e Trapianto di cellule staminali emopoietiche

Fulvia Brugnoletti
Università Cattolica Sacro Cuore, Istituto di Medicina Genomica, Fondazione Policlinico Universitario A. Gemelli, IRCSS, Genetica Medica

Luigi Maria Larocca
Università Cattolica Sacro Cuore, Istituto di Anatomia Patologica, Fondazione Policlinico Universitario A. Gemelli, IRCSS, Anatomia Patologica

Marcella Zollino
Università Cattolica Sacro Cuore, Istituto di Medicina Genomica, Fondazione Policlinico Universitario A. Gemelli, IRCSS, Genetica Medica

Andrea Paolo Bacigalupo
Università Cattolica Sacro Cuore, Istituto di Ematologia. Fondazione Policlinico Universitario A. Gemelli, IRCSS, Ematologia e Trapianto di cellule staminali emopoietiche

Stefan Hohaus
Università Cattolica Sacro Cuore, Istituto di Ematologia. Fondazione Policlinico Universitario A. Gemelli, IRCSS, Ematologia e Trapianto di cellule staminali emopoietiche

Keywords

Burkitt Lymphoma, Cowden Syndrome

Abstract

x

Downloads

Download data is not yet available.


Abstract 769
PDF Downloads 390
HTML Downloads 129

References

1. Nelen MR, van Staveren WC, Peeters EA, Hassel MB, Gorlin RJ, Hamm H, et al. Germline mutations in the PTEN/MMAC1 gene in patients with Cowden disease. Hum Mol Genet [Internet]. 1997 Aug 1 [cited 2019 May 14];6(8):1383–7. Available from: https://academic.oup.com/hmg/article-lookup/doi/10.1093/hmg/6.8.1383
2. Pilarski R, Stephens JA, Noss R, Fisher JL, Prior TW. Predicting PTEN mutations: an evaluation of Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome clinical features. J Med Genet [Internet]. 2011 Aug 1 [cited 2019 Aug 20];48(8):505–12. Available from: http://www.ncbi.nlm.nih.gov/pubmed/21659347
3. Cavaillé M, Ponelle-Chachuat F, Uhrhammer N, Viala S, Gay-Bellile M, Privat M, et al. Early Onset Multiple Primary Tumors in Atypical Presentation of Cowden Syndrome Identified by Whole-Exome-Sequencing. Front Genet [Internet]. 2018 Aug 31 [cited 2019 May 14];9:353. Available from: http://www.ncbi.nlm.nih.gov/pubmed/30233642
4. Elston DM, James WD, Rodman OG, Graham GF. Multiple hamartoma syndrome (Cowden’s disease) associated with non-Hodgkin’s lymphoma. Arch Dermatol [Internet]. 1986 May [cited 2019 May 14];122(5):572–5. Available from: http://www.ncbi.nlm.nih.gov/pubmed/3707175
5. Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med [Internet]. 2015 May 5 [cited 2019 Aug 20];17(5):405–23. Available from: http://www.ncbi.nlm.nih.gov/pubmed/25741868
6. Wang X, Huang H, Young KH. The PTEN tumor suppressor gene and its role in lymphoma pathogenesis. Aging (Albany NY) [Internet]. 2015 Dec 10 [cited 2019 May 14];7(12):1032–49. Available from: http://www.ncbi.nlm.nih.gov/pubmed/26655726
7. Schmitz R, Young RM, Ceribelli M, Jhavar S, Xiao W, Zhang M, et al. Burkitt lymphoma pathogenesis and therapeutic targets from structural and functional genomics. Nature [Internet]. 2012 Oct 4 [cited 2019 May 14];490(7418):116–20. Available from: http://www.nature.com/doifinder/10.1038/nature11378
8. Grande BM, Gerhard DS, Jiang A, Griner NB, Abramson JS, Alexander TB, et al. Genome-wide discovery of somatic coding and noncoding mutations in pediatric endemic and sporadic Burkitt lymphoma. Blood [Internet]. 2019 Mar 21 [cited 2019 May 14];133(12):1313–24. Available from: http://www.bloodjournal.org/lookup/doi/10.1182/blood-2018-09-871418
9. Pfeifer M, Grau M, Lenze D, Wenzel S-S, Wolf A, Wollert-Wulf B, et al. PTEN loss defines a PI3K/AKT pathway-dependent germinal center subtype of diffuse large B-cell lymphoma. Proc Natl Acad Sci U S A [Internet]. 2013 Jul 23 [cited 2019 Aug 20];110(30):12420–5. Available from: http://www.pnas.org/cgi/doi/10.1073/pnas.1305656110
10. Ambrosio MR, Navari M, Di Lisio L, Leon EA, Onnis A, Gazaneo S, et al. The Epstein Barr-encoded BART-6-3p microRNA affects regulation of cell growth and immuno response in Burkitt lymphoma. Infect Agent Cancer [Internet]. 2014 [cited 2019 May 14];9(1):12. Available from: http://infectagentscancer.biomedcentral.com/articles/10.1186/1750-9378-9-12
11. Kaymaz Y, Oduor CI, Yu H, Otieno JA, Ong’echa JM, Moormann AM, et al. Comprehensive Transcriptome and Mutational Profiling of Endemic Burkitt Lymphoma Reveals EBV Type-Specific Differences. Mol Cancer Res [Internet]. 2017 May [cited 2019 Aug 20];15(5):563–76. Available from: http://mcr.aacrjournals.org/lookup/doi/10.1158/1541-7786.MCR-16-0305
12. Wang X, Cao X, Sun R, Tang C, Tzankov A, Zhang J, et al. Clinical Significance of PTEN Deletion, Mutation, and Loss of PTEN Expression in De Novo Diffuse Large B-Cell Lymphoma. Neoplasia [Internet]. 2018 Jun [cited 2019 Aug 20];20(6):574–93. Available from: https://linkinghub.elsevier.com/retrieve/pii/S1476558618300137
13. Bhatti M, Ippolito T, Mavis C, Gu J, Cairo MS, Lim MS, et al. Pre-clinical activity of targeting the PI3K/Akt/mTOR pathway in Burkitt lymphoma. Oncotarget [Internet]. 2018 Apr 24 [cited 2019 Aug 20];9(31):21820–30. Available from: http://www.oncotarget.com/fulltext/25072
14. Younes A, Salles G, Martinelli G, Bociek RG, Barrigon DC, Barca EG, et al. Pan-phosphatidylinositol 3-kinase inhibition with buparlisib in patients with relapsed or refractory non-Hodgkin lymphoma. Haematologica [Internet]. 2017 Dec [cited 2019 May 14];102(12):2104–12. Available from: ttp://www.haematologica.org/lookup/doi/10.3324/haematol.2017.169656

Article Sidebar

PDF HTML
Published
Jun 28, 2020
DOI https://doi.org/10.4084/mjhid.2020.034

Article Details

How to Cite

Galli, E. (2020) “Burkitt lymphoma as fourth neoplasia in a patient affected by Cowden Syndrome with a novel PTEN germline pathogenic variant”, Mediterranean Journal of Hematology and Infectious Diseases, 12(1), p. e2020034. doi: 10.4084/mjhid.2020.034.
Issue
Vol. 12 No. 1 (2020): Mediterranean Journal of Hematology and Infectious Diseases, Volume 12, 2020
Section
Letters to the Editor

This is an Open Access article distributed under the terms of the Creative Commons Attribution License (https://creativecommons.org/licenses/by-nc/4.0) which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Transfer of Copyright and Permission to Reproduce Parts of Published Papers. Authors will grant copyright of their articles to the Institute of Hematology, Catholic University, Rome . No formal permission will be required to reproduce parts (tables or illustrations) of published papers, provided the source is quoted appropriately and reproduction has no commercial intent. Reproductions with commercial intent will require written permission and payment of royalties.