Publications
Joanna Przybyl, Ph.D.

Original research     

1.     Detection of MDM2 amplification by shallow whole genome sequencing of cell-free DNA of patients with dedifferentiated liposarcoma. Przybyl J, Spans L, Ganjoo K, Bui N, Mohler D, Norton J, Poultsides G, Debiec-Rychter M, van de Rijn M. PLoS One. 2022 Jan 5;17(1):e0262272.

2.     CRISPR-SID: Identifying EZH2 as a druggable target for desmoid tumors via in vivo dependency mapping . Naert T, Tulkens D, Van Nieuwenhuysen T, Przybyl J, Demuynck S, van de Rijn M, Al-Jazrawe M, Alman BA, Coucke PJ, De Leeneer K, Vanhove C, Savvides SN, Creytens D, Vleminckx K. Proc Natl Acad Sci USA. 2021 Nov 23;118(47):e2115116118.

3.      Atlas of clinically distinct cell states and ecosystems across human solid tumors. 
Luca BA, Steen CB, Matusiak M, Azizi A, Varma S, Zhu C, Przybyl J, Espín-Pérez A, Diehn M, Alizadeh AA, van de Rijn M, Gentles AJ, Newman AM. Cell. 2021 Sep 28:S0092-8674(21)01061-8. 

4.     Prognostic relevance of the hexosamine biosynthesis pathway activation in leiomyosarcoma.
Tolwani A, Matusiak M, Bui, N, Forgo E, Varma S, Baratto L, Iagaru A, Lazar AJ, van de Rijn M, Przybyl J. npj Genomic Medicine. 2021 May 3;6(1):30. doi: 10.1038/s41525-021-00193-w. 

5.     Relationships between highly recurrent tumor suppressor alterations in 489 leiomyosarcomas.
Schaefer IM, Lundberg MZ, Demicco EG, Przybyl J, Matusiak M, Chibon F, Ingram DR, Hornick JL, Wang WL, Bauer S, Baker LH, Lazar AJ, van de Rijn M, Mariño-Enríqu​ez A, Fletcher JA. Cancer. 2021 Mar 31. doi: 10.1002/cncr.33542 

6.     HAND1 and BARX1 act as transcriptional and anatomic determinants of malignancy in gastrointestinal stromal tumor.
Hemming ML, Coy S, Lin JR, Andersen JL, Przybyl J, Mazzola E, Abdelhamid Ahmed AH, van de Rijn M, Sorger PK, Armstrong SA, Demetri GD, Santagata S. Clin Cancer Res. 2021 Jan 15: clincanres.3538.2020. 

7.     Detection of circulating tumor DNA in patients with uterine leiomyomas.
Przybyl J, Spans L, Lum D, Zhu S, Vennam S, Forgó E, Varma S, Ganjoo K, Hastie T, Bowen R, Debiec-Rychter M, van de Rijn M. JCO Precision Oncology. 2019 Oct 16;3:1-9. 

8.     A clinico-genomic analysis of soft tissue sarcoma patients reveals CDKN2A deletion as a biomarker for poor prognosis. 
Bui NQ, Przybyl J, Trabucco SE, Frampton G, Hastie T, van de Rijn M, Ganjoo KN. Clin Sarcoma Res. 2019 Sep 11;9:12. 

9.     Discovery and characterization of recurrent, targetable ALK fusions in leiomyosarcoma. 
Davis L, Nusser K, Przybyl J, Pittsenbarger J, Hofmann N, Varma S, Vennam S, Debiec-Rychter M, van de Rijn M, Davare M. Mol Cancer Res. 2019 Mar;17(3):676-685. 

10.     Combination approach for detecting different types of alterations in circulating tumor DNA in leiomyosarcoma.
Przybyl J*, Chabon JJ*, Spans L, Ganjoo K, Vennam S, Newman AM, Forgó E, Varma S, Zhu S, Debiec-Rychter M, Alizadeh AA, Diehn M, van de Rijn M. Clin Cancer Res. 2018 Jun 1;24(11):2688-2699. 

11.     Gene expression profiling of low-grade endometrial stromal sarcoma indicates fusion protein-mediated activation of the Wnt signaling pathway.
Przybyl J, Kidzinski L, Hastie T, Debiec-Rychter M, Nusse R, van de Rijn M. Gynecol Oncol. 2018 May;149(2):388-393.  

12.  BCOR Internal Tandem Duplication in High-Grade Uterine Sarcomas. 
Mariño-Enriquez A, Lauria A, Przybyl J, Ng TL, Kowalewska M, Debiec-Rychter M, Ganesan R, Sumathi V, George S, McCluggage WG, Nucci MR, Lee CH, Fletcher JA. Am J Surg Pathol. 2018 Mar;42(3):335-341. 

13. Macrophage infiltration and genetic landscape of undifferentiated uterine sarcomas.
Przybyl J, Kowalewska M, Quattrone A, Dewaele B, Vanspauwen V, Varma S, Vennam S, Newman AM, Swierniak M, Bakuła-Zalewska E, Siedlecki JA, Bidzinski M, Cools J, van de Rijn M, Debiec-Rychter M. JCI Insight. 2017 Jun 2;2(11).

14. Metastatic potential is determined early in synovial sarcoma development and reflected by tumor molecular features.
Przybyl J, Sciot R, Wozniak A, Schöffski P, Vanspauwen V, Samson I, Siedlecki JA, Rutkowski P, Debiec- Rychter M. Int J Biochem Cell Biol. 2014 Aug;53:505-13.

15. Gene expression profiling of peripheral blood cells: new insights into Ewing sarcoma biology and clinical applications.
Przybyl J, Kozak K, Kosela H, Falkowski S, Switaj T, Lugowska I, Szumera-Cieckiewicz A, Ptaszynski K, Grygalewicz B, Chechlinska M, Pienkowska-Grela B, Debiec-Rychter M, Siedlecki JA, Rutkowski P. Med Oncol. 2014 Aug;31(8):109. 

16. Identification of a novel, recurrent MBTD1-CXorf67 fusion in low-grade endometrial stromal sarcoma.
Dewaele B, Przybyl J, Quattrone A, Finalet Ferreiro J, Vanspauwen V, Geerdens E, Gianfelici V, Kalender Z, Wozniak A, Moerman P, Sciot R, Croce S, Amant F, Vandenberghe P, Cools J, Debiec-Rychter M. Int J Cancer. 2014 Mar 1;134(5):1112-22. 

17. Chromosome instability accounts for reverse metastatic outcomes of pediatric and adult synovial sarcomas.
Lagarde P*, Przybyl J*, Brulard C, Pérot G, Pierron G, Delattre O, Sciot R, Wozniak A, Schöffski P, Terrier P, Neuville A, Coindre JM, Italiano A, Orbach D, Debiec-Rychter M, Chibon F. J Clin Oncol. 2013 Feb 10;31(5):608-15.

18. Recurrent and novel SS18-SSX fusion transcripts in synovial sarcoma: description of three new cases. 
Przybyl J, Sciot R, Rutkowski P, Siedlecki JA, Vanspauwen V, Samson I, Debiec-Rychter M. Tumour Biol. 2012 Dec;33(6):2245-53.     

Commentaries and review articles    

1.       Targeting O-GlcNAcylation to overcome resistance to radiotherapy. 
Przybyl J Clin Transl Disc. 2022;2:e59.  

2    Detection of SS18-SSX1/2 fusion transcripts in circulating tumor cells of patients with synovial sarcoma. 
Przybyl J, van de Rijn M, Rutkowski P. Diagn Pathol. 2019 Mar 14;14(1):24. 

3.     Genetics of rare mesenchymal tumors: Implications for targeted treatment in DFSP, ASPS, CCS, GCTB and PEComa. 
Rutkowski P, Przybyl J, Switaj T. Int J Biochem Cell Biol. 2014 Aug;53:466-74.

4.     Extended Adjuvant Therapy with Imatinib in Patients with Gastrointestinal Stromal Tumors: Recommendations for Patient Selection, Risk Assessment, and Molecular Response Monitoring.
Rutkowski P, Przybyl J, Zdzienicki M. Mol Diagn Ther. 2013 Feb;17(1):9-19. 

5.     Downstream and intermediate interactions of synovial sarcoma-associated fusion oncoproteins and their implication for targeted therapy. 
Przybyl J, Jurkowska M, Rutkowski P, Debiec-Rychter M, Siedlecki JA. Sarcoma. 2012;2012:249219. Epub 2012 Mar 25.