Genetic testing and counseling of a recipient after bone marrow transplant from a sibling harboring a germline BRCA1 pathogenic mutation

Škerl,Petra; Krajc,Mateja; Blatnik,Ana; Novaković,Srdjan

doi:10.3892/or.2017.5703

Genetic testing and counseling of a recipient after bone marrow transplant from a sibling harboring a germline BRCA1 pathogenic mutation

Authors:
- Petra Škerl
- Mateja Krajc
- Ana Blatnik
- Srdjan Novaković
View Affiliations

Affiliations: Department of Molecular Diagnostics, Institute of Oncology Ljubljana, 1000 Ljubljana, Slovenia, Cancer Genetics Clinic, Institute of Oncology Ljubljana, 1000 Ljubljana, Slovenia
Published online on: June 6, 2017 https://doi.org/10.3892/or.2017.5703
Pages: 279-282

Metrics: Total Views: 0 (Spandidos Publications: | PMC Statistics: )

Metrics: Total PDF Downloads: 0 (Spandidos Publications: | PMC Statistics: )

Cited By (CrossRef): 0 citations Loading Articles...

Abstract

Allogenic bone marrow transplant recipients represent a unique challenge, when they are referred for genetic testing and counseling. When performing genetic testing, it is extremely important to ensure that the detected DNA mutations originate from the patients own DNA, and therefore the most appropriate and reliable biological sample for DNA isolation must be obtained. The aim of the present study was to present the germline testing and counseling approach utilized in a rare case of a chimeric woman who received an allogenic bone marrow transplant from a sibling with a germline BRCA1 pathogenic mutation. According to our results, hairs with follicles are a reliable and ready source of DNA in a patient whose blood is of allogenic bone marrow transplant donor origin. Compared with a fibroblast culture, which is more difficult to obtain, the hair follicles are much more accessible and hair sampling is less invasive for the patient. Genetic testing based on the other sources of DNA, such as buccal swabs, is questionable due to the known risk of donor DNA contamination.

View Figures

View References

1	Waterhouse M, Themeli M, Bertz H, Zoumbos N, Finke J and Spyridonidis A: Horizontal DNA transfer from donor to host cells as an alternative mechanism of epithelial chimerism after allogeneic hematopoietic cell transplantation. Biol Blood Marrow Transplant. 17:319–329. 2011. View Article : Google Scholar : PubMed/NCBI
2	Network NCCN: NCCN Clinical Practice Guidelines in Oncology - Genetic/Familial high-risk assessment: Breast and ovarian. Version. 2016.
3	Hong YC, Liu HM, Chen PS, Chen YJ, Lyou JY, Hu HY, Yi MF, Lin JS and Tzeng CH: Hair follicle: A reliable source of recipient origin after allogeneic hematopoietic stem cell transplantation. Bone Marrow Transplant. 40:871–874. 2007. View Article : Google Scholar : PubMed/NCBI
4	Tran SD, Pillemer SR, Dutra A, Barrett AJ, Brownstein MJ, Key S, Pak E, Leakan RA, Kingman A, Yamada KM, et al: Differentiation of human bone marrow-derived cells into buccal epithelial cells in vivo: A molecular analytical study. Lancet. 361:1084–1088. 2003. View Article : Google Scholar : PubMed/NCBI
5	Mancini-DiNardo D, Landon M, Abbott B, Elias M, Rinsky J and Roa B: Complexities in genetic testing for allogenic bone marrow transplant recipients and patients with hematologic malignancies. Journal. 2016.http://www.ashg.org/2014meeting/abstracts/fulltext/f140122408.htm
6	Novaković S, Milatović M, Cerkovnik P, Stegel V, Krajc M, Hočevar M, Zgajnar J and Vakselj A: Novel BRCA1BRCA2 pathogenic mutations in Slovene hereditary breast and ovarian cancer families. Int J Oncol. 41:1619–1627. 2012.PubMed/NCBI
7	Stegel V, Krajc M, Zgajnar J, Teugels E, De Grève J, Hočevar M and Novaković S: The occurrence of germline BRCA1BRCA2 sequence alterations in Slovenian population. BMC Med Genet. 12:92011. View Article : Google Scholar : PubMed/NCBI
8	Jiang Y, Jahagirdar BN, Reinhardt RL, Schwartz RE, Keene CD, Ortiz-Gonzalez XR, Reyes M, Lenvik T, Lund T, Blackstad M, et al: Pluripotency of mesenchymal stem cells derived from adult marrow. Nature. 418:41–49. 2002. View Article : Google Scholar : PubMed/NCBI
9	Körbling M, Katz RL, Khanna A, Ruifrok AC, Rondon G, Albitar M, Champlin RE and Estrov Z: Hepatocytes and epithelial cells of donor origin in recipients of peripheral-blood stem cells. N Engl J Med. 346:738–746. 2002. View Article : Google Scholar : PubMed/NCBI
10	Krause DS, Theise ND, Collector MI, Henegariu O, Hwang S, Gardner R, Neutzel S and Sharkis SJ: Multi-organ, multi-lineage engraftment by a single bone marrow-derived stem cell. Cell. 105:369–377. 2001. View Article : Google Scholar : PubMed/NCBI
11	Mezey E, Chandross KJ, Harta G, Maki RA and McKercher SR: Turning blood into brain: Cells bearing neuronal antigens generated in vivo from bone marrow. Science. 290:1779–1782. 2000. View Article : Google Scholar : PubMed/NCBI
12	Orlic D, Kajstura J, Chimenti S, Jakoniuk I, Anderson SM, Li B, Pickel J, McKay R, Nadal-Ginard B, Bodine DM, et al: Bone marrow cells regenerate infarcted myocardium. Nature. 410:701–705. 2001. View Article : Google Scholar : PubMed/NCBI
13	Kim HS, Lee SW, Choi YJ, Shin SW, Kim YH, Cho MS, Lee SN and Park KH: Novel germline mutation of BRCA1 gene in a 56-year-old woman with breast cancer, ovarian cancer, and diffuse large B-cell lymphoma. Cancer Res Treat. 47:534–538. 2015. View Article : Google Scholar : PubMed/NCBI
14	Friedenson B: The BRCA1/2 pathway prevents hematologic cancers in addition to breast and ovarian cancers. BMC Cancer. 7:1522007. View Article : Google Scholar : PubMed/NCBI
15	Risch HA, McLaughlin JR, Cole DE, Rosen B, Bradley L, Kwan E, Jack E, Vesprini DJ, Kuperstein G, Abrahamson JL, et al: Prevalence and penetrance of germline BRCA1BRCA2 mutations in a population series of 649 women with ovarian cancer. Am J Hum Genet. 68:700–710. 2001. View Article : Google Scholar : PubMed/NCBI
16	Shih HA, Nathanson KL, Seal S, Collins N, Stratton MR, Rebbeck TR and Weber BL: BRCA1 and BRCA2 mutations in breast cancer families with multiple primary cancers. Clin Cancer Res. 6:4259–4264. 2000.PubMed/NCBI