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HEMATOLOJİK KANSERLERDE 1p36’NIN YAPISAL ANOMALİLERİ

Year 2023, Volume: 86 Issue: 4, 336 - 344, 01.12.2023

Rahiye Dilhan Kuru Ayşe Çırakoğlu Şükriye Yılmaz Şeniz Öngören Muhlis Cem Ar Teoman Soysal Ayhan Deviren Yelda Tarkan Argüden

https://doi.org/10.26650/IUITFD.1317330

Abstract

Amaç: 1p36 bölgesinin yapı anomalileri bir çok hematolojik kanserde oldukça yaygındır. 1p36 bölgesi, kanser gelişiminde etkili olan önemli genlere sahiptir. Bu çalışmanın amacı, olgularımıza ait 1p36 anomalilerini ve farklı hematolojik kanserlerdeki dağılımlarını belirtmektir.
Gereç ve Yöntem: Bu çalışma için hematolojik kanser olgularımızın sitogenetik sonuçları retrospektif olarak değerlendirilmiştir.
Bulgular: Myelodisplastik sendrom (MDS), akut myeloid lösemi (AML), multipl myelom (MM), kronik myeloid lösemi (KML), lenfoma, B hücreli akut lenfoblastik lösemi (B-ALL), idyopatik trombositopenik purpura (ITP) ve aplastik anemi (AA) hastası olmak üzere 18 farklı hematolojik kanser olgusunda 1p36 kırık noktasına ait delesyon ya da yeniden düzenlenmeler saptanmıştır. Bir AML-M2 hastasında t(1;3)(p36;p21) ve iki KML hastasında t(1;3) (p36;q21) gözlemlenirken, sekiz hastada (1 MDS, 2 MM, 3 KML, 1 AML and 1 AA) translokasyon ve yeniden düzenlenmeler tespit edilmiştir. Bir ITP hastası der(1)t(1;1)(p36;q21) ve bir KML hastasında ise der(1)t(1;1)(p36;q12) kromozom yapısı saptanmıştır. Beş hastada (2 MDS, 2 lenfoma, ve 1 B hücreli akut lenfositik lösemi) 1p11 ve 1p36 arasındaki farklı kırık noktalarında çeşitli terminal delesyonlar gözlenmiştir.
Sonuç: 1p36 kanserle ilişkili kromozom yeniden düzenlemeler için sıcak noktadır ve kötü prognozla ilişkilendirilmektedir. 1p36 bölgesinin hematolojik kanserlerdeki önemini vurgulamak için, konuyla ilgili geniş bir veri havuzu oluşturmak önemlidir. Serimizdeki 1p36 anomalilerinin dağılımı, 18 hastanın 12’sinde 1p kırık noktasının 1p36 olması nedeniyle dikkat çekicidir. Bu çalışma ile sonuçlarımızı sunarak bu alandaki literatüre katkı sağlayacağımızı düşünmekteyiz.

Keywords

1p36 lösemi lenfoid kanserler myeloid kanserler sitogenetik kemik iliği

Project Number

25328

References

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STRUCTURAL ABERRATIONS OF 1p36 IN HEMATOLOGIC MALIGNANCIES

Year 2023, Volume: 86 Issue: 4, 336 - 344, 01.12.2023

Rahiye Dilhan Kuru Ayşe Çırakoğlu Şükriye Yılmaz Şeniz Öngören Muhlis Cem Ar Teoman Soysal Ayhan Deviren Yelda Tarkan Argüden

https://doi.org/10.26650/IUITFD.1317330

Abstract

Objective: Structural aberrations of 1p36 are very common in most hematologic malignancies. 1p36 consists of genes that are important in oncogenesis. The aim of this study was to define 1p36 abnormalities and their distributions within different hematologic malignancies.
Materials and Methods: To achieve this goal, we retrospectively evaluated the cytogenetic results of our hematological cancer cases.
Result: We found deletions or rearrangements of breakpoint 1p36 in 18 patients with various hematologic malignancies, including myelodysplastic syndrome (MDS), acute myeloid leukemia (AML), multiple myeloma (MM), chronic myeloid leukemia (CML), lymphoma, B cell acute lymphoblastic leukemia (B-ALL), idiopathic thrombocytopenic purpura (ITP) and aplastic anemia (AA). We observed t(1;3)(p36;p21) in one AML-M2 patient and t(1;3)(p36;q21) in two CML patients. Eight patients (1 MDS, 2 MM, 3 CML, 1 AML, and 1 AA) had translocations and rearrangements. One ITP patient had der(1)t(1;1)(p36;q21) and another CML patient had der(1)t(1;1)(p36;q12). We demonstrated several terminal deletions with different breakpoints between 1p11 and 1p36 in five patients, (2 MDS, 2 lymphomas, and 1 B cell acute lymphocytic leukemia).
Conclusion: The 1p36 breakpoint is a hot spot for cancer-related chromosome rearrangements and is associated with poor prognosis. In order to emphasize the importance of 1p36 in hematologic malignancies it essential to build a large data pool on the subject. The distribution of breakpoints in 1p abnormalities in our series was remarkable, as 12 out of 18 1p breakpoints were 1p36. However, while 1p breakpoints aggregated on 1p36 in all translocations, there was only one 1p36 breakpoint in five deletions. With this paper, we contribute to the relevant literature by reporting our results.

Keywords

1p36 leukemia lymphoid malignancies myeloid malignancies cytogenetics bone marrow

Supporting Institution

İstanbul Üniversitesi Araştırma Fonu

Project Number

25328

Thanks

Thanks to Mine Gürsel for the English grammar corrections.

References

  • Sato Y, Izumi T, Kanamori H, Davis EM, Miura Y, Larson RA et al. t(1;3)(p36;p21) Is a Recurring Therapy-Related Translocation. Genes Chromosomes Cancer 2002;34(2):186-92. [CrossRef] google scholar
  • Yoshida C, Suzukawa K, Katsura Y, Shimizu S, Mukai HY, Hasegawa Y et al. T-cell acute lymphoblastic leukemia with add(1)(p36) and del(12)(p11) following acute myelocytic leukemia with partial deletion of 9p. Cancer Genet Cytogenet 2004;150(1):62-5. [CrossRef] google scholar
  • Xian RR, Xie Y, Haley LM, Yonescu R, Pallavajjala A, Pittaluga S et al. CREBBP and STAT6 co-mutation and 16p13 and 1p36 loss define the t(14;18)-negative diffuse variant of follicular lymphoma. Blood Cancer J 2020;10(69):1-12. [CrossRef] google scholar
  • Lahortiga I, Vazquez I, Belloni E, Roman JP, Gasparini P, Novo FJ et al. FISH analysis of hematological neoplasias with 1p36 rearrangements allows the definition of a cluster of 2.5 Mb included in the minimal region deleted in 1p36 deletion syndrome. Hum Genet 2005;116(6):476-85. [CrossRef] google scholar
  • Caramazza D, Hussein K, Siragusa S, Pardanani A, Knudson RA, Ketterling RP et al. Chromosome 1 abnormalities in myeloid malignancies: a literatüre survey and karyotype-phenotype associations. Eur.J.Haematol 2009;84(3):191-200. [CrossRef] google scholar
  • Chng,WJ, Gertz MA, Chung T-H, Wier SV, Keats JJ, Baker A et al. Correlation between array-comparative genomic hybridization defined genomic gains and losses and survival: identification of 1p31-32 deletion as a prognostic factor in myeloma. Leukemia 2010;24(4):833-42. [CrossRef] google scholar
  • Barasch NK, Liu YC, Ho J, Bailey N, Aggarwal N, Cook JR et al. The molecular landscape and other distinctive features of primary cutaneous follicle center lymphoma. Hum Pathol 2020;106:93-105. [CrossRef] google scholar
  • Nadarajan VS, Phan C-L, Ang C-H, Liang K-L, Gan G-G, Bee P-C et al. Identification of copy number alterations by array comparative genomic hybridization in patients with late chronic or accelerated phase chronic myeloid leukemia treated with imatinib mesylate. Int J Hematol 2011;93(4):65-73. [CrossRef] google scholar
  • Duhoux FP, Ameye G, Montano-Almendras CP, Bahloula K, Mozziconacci MJ, Laibe S et al. PRDM16 (1p36) translocations define a distinct entity of myeloid malignancies with poor prognosis but may also occur in lymphoid malignancies. Br J of Haematol 2012;156(1):76-88. [CrossRef] google scholar
  • Gudmundssona KO, Nguyena N, Oakleya K, Han Y, Gudmundsdottir B et al. Prdm16 is a critical regulator of adult long-term hematopoietic stem cell quiescence. PNAS 2020;117(50):31945-53. [CrossRef] google scholar
  • Dao F-T, Chen W-M, Long L-Y, Lİ L-D, Yang L, Wang J et al. High PRDM16 expression predicts poor outcomes in adult acute myeloid leukemia patients with intermediate cytogenetic risk: a comprehensive cohort study from a single Chinese center. Leuk Lymphoma 2021;62(1):185-93. [CrossRef] google scholar
  • McDonald JM, Dunmire V, Taylor E, Sawaya R, Bruner J, Fuller GN et al. Attenuated Expression of DFFB is a Hallmark of Oligodendrogliomas with 1p-Allelic Loss. Mol Cancer 2005;4:35 [CrossRef] google scholar
  • Seto KKY and Andrulis IL. Atypical Protein Kinase C Zeta: Potential Player in Cell Survival and Cell Migration of Ovarian Cancer. Plos One 2015;10(4):e0123528 [CrossRef] google scholar
  • MMP23B Gene - Matrix Metallopeptidase 23B. Protein Coding (Updated: Aug 2, 2023 ; GC01P006089 ; GIFtS: 42 ). Available from: URL: https://www.genecards.org/cgi-bin/ carddisp.pl?gene=MMP23B google scholar
  • Masetti R,Togni M, Astolfi A, Pigazzi M, Indio V, Rivalta B et al. Whole transcriptome sequencing of a paediatric case of de novo acute myeloid leukaemia with del(5q) reveals RUNX1-USP42 and PRDM16-SKI fusion transcripts. Br J of Haematol 2014;166(3):449-52. [CrossRef] google scholar
  • Tesser-Gamba F, Petrilli AS, Alves MS, Juliano RJGFY, Toledo SRC. MAPK7 and MAP2K4 as prognostic markers in osteosarcoma. Hum Pathol 2012;43(7):994-1002 [CrossRef] google scholar
  • Rooney DE, Czepulkowski BH, editors. Human Cytogenetics-A Practical Approach. Oxford: IRL Press; Vol II, 1987. google scholar
  • McGowan-Jordan J, Simon A, Schmid M, editors. ISCN 2016, An International System for Human Cytogenetic Nomenclature. Basel: Karger AG; 2016. [CrossRef] google scholar
  • Güven GS, Tarkan Argüden Y, Öngören Ş, Deviren A, Aydın Y, Hacıhanefioğlu S. t(1;3)(p36;p21): presentation of a patient with MDS/AML (M2) and review of the literature. Turk J Hematol 2006;23(2):115-8. google scholar
  • Johansson B, Fioretos T, Mitelman F. Cytogenetic and Molecular Genetic Evolution of Chronic Myeloid Leukemia. Acta Haematol 2002;107(2):76-94. [CrossRef] google scholar
  • Brazma D, Grace C, Howard J, Melo JV, Holyoke T, Apperley JF et al. Genomic Profile of Chronic Myelogenous Leukemia: Imbalances Associated with Disease Progression. Genes Chromosomes Cancer 2007;46(11):1039-50. [CrossRef] google scholar
  • Duhoux FP, Ameye G, Lambot V, Herens C, Lambert F, Raynaud S et al. Refinement of 1p36 Alterations Not Involving PRDM16 in Myeloid and Lymphoid Malignancies. PLoS One 2011;6(10):e26311. [CrossRef] google scholar
  • Atlas. Hosted by INIST Last update: Wed May 26 17:52:44 CEST 2021 http://atlasgeneticsoncology.org google scholar
  • Lunghi M, Casorzo L, De Paoli L, Riccomagno P, Rossi D, Gaidano G. Derivative (1)t(1;16)(p11;p11.1) in myelodysplastic syndrome: a case report and review of the literature. Cancer Genet Cytogenet 2010;196(1):89-92. [CrossRef] google scholar
  • Tantavahi R, Shipp MA, Greeley TA, Pavelkaa K, Bern MM, Rosenthal DS et al. Four patients with myelodysplastic syndrome with translocations (1;7)(p11;p11) including one patient with independent clones del(1)(q22) and t(1;7) (q21;q11). Cancer Genet Cytogenet 1988;30(1):83-90. [CrossRef] google scholar
  • Mohamed AN, Palutke M, Eisenberg L, Al-Katib A. Chromosomal analyses of 52 cases of follicular lymphoma with t(14;18), including blastic/blastoid variant. Cancer Genet Cytogenet 2001;126:45-51. [CrossRef] google scholar
  • Mitsui T, Yokohama A, Koiso H, Saito A, Toyama K, Shimizu H et al. Prognostic impact of trisomy 21 in follicular lymphoma. Br J of Haematol 2018;184(4):570-7. [CrossRef] google scholar
  • Carbone P, Barbata G, Tumminello P, Bellanca F, Majolino I, Granata G. Translocation t(8;14)(q24;q32) and del(1) (p22) in FAB-L1 adult acute lymphoblastic leukemia with long survival. Cancer Genet Cytogenet 1988;32(1):143-7. [CrossRef] google scholar
  • Belaud-Rotureau MA, Marietta V, Vergier B, Mainhaguiet G, Turmo M, Idrissi Y et al. Inactivation of p16INK4a/CDKN2A gene may be a diagnostic feature of large B cell lymphoma leg type among cutaneous B cell lymphomas. Virchows Arch 2008;452(6):607-20. [CrossRef] google scholar
  • Coupland, LA, Jammu, V, Pidcock, ME. Partial deletion of chromosome 1 in a case of acute myelocytic leukemia. Cancer Genet Cytogenet 2002;139(1):60-2.. [CrossRef] google scholar
  • Svobodova K, Zemanova Z, Lhotska H, Novakovaa M, Podskalska L, Belickova M et al. Copy number neutral loss of heterozygosity at 17p and homozygous mutations of TP53 are associated with complex chromosomal aberrations in patients newly diagnosed with myelodysplastic syndromes. Leuk Res 2016 42:7-12. [CrossRef] google scholar
  • Lancman G, Tremblay D, Barley K, Barlogie B, Cho HJ, Jagannath S et al. The Effect of Novel Therapies in High-Molecular-Risk Multiple Myeloma. Clin Adv Hematol Oncol 2017;15(11):870-9. google scholar
  • Wang H, Wang X-Q, Xu X-P, Lin G-W. Cytogenetic evolution correlates with poor prognosis in myelodysplastic syndrome. Cancer Genet Cytogenet 2010;196(2):159-66. [CrossRef] google scholar
  • Kim B-R, Kim J-E, Woo K-S, Kim K-H, Kim J-M, Lee S et al. A Case of Near-triploidy in Myelodysplastic Syndrome with del(5q) Combined with del(1p) and del(13q). Ann Lab Med 2012;32(4):294-7. [CrossRef] google scholar
  • Zamecnikova A and Bahar S. der(1)t(1;1)(p36;q11-q32) in hematopoietic malignancies. Atlas Genet Cytogenet Oncol Haematol 2017;21(4):150-5. [CrossRef] google scholar
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There are 50 citations in total.

Details

Primary Language English
Subjects Health Services and Systems (Other)
Journal Section RESEARCH
Authors

Rahiye Dilhan Kuru 0000-0001-8088-5336

Ayşe Çırakoğlu 0000-0003-0330-2277

Şükriye Yılmaz 0000-0001-8076-3080

Şeniz Öngören 0000-0002-2809-5510

Muhlis Cem Ar 0000-0002-0332-9253

Teoman Soysal 0000-0002-7417-2118

Ayhan Deviren 0000-0003-2117-8230

Yelda Tarkan Argüden 0000-0002-5405-3365

Project Number 25328
Publication Date December 1, 2023
Submission Date June 21, 2023
Published in Issue Year 2023 Volume: 86 Issue: 4

Cite

APA Kuru, R. D., Çırakoğlu, A., Yılmaz, Ş., Öngören, Ş., et al. (2023). STRUCTURAL ABERRATIONS OF 1p36 IN HEMATOLOGIC MALIGNANCIES. Journal of Istanbul Faculty of Medicine, 86(4), 336-344. https://doi.org/10.26650/IUITFD.1317330
AMA Kuru RD, Çırakoğlu A, Yılmaz Ş, Öngören Ş, Ar MC, Soysal T, Deviren A, Tarkan Argüden Y. STRUCTURAL ABERRATIONS OF 1p36 IN HEMATOLOGIC MALIGNANCIES. İst Tıp Fak Derg. December 2023;86(4):336-344. doi:10.26650/IUITFD.1317330
Chicago Kuru, Rahiye Dilhan, Ayşe Çırakoğlu, Şükriye Yılmaz, Şeniz Öngören, Muhlis Cem Ar, Teoman Soysal, Ayhan Deviren, and Yelda Tarkan Argüden. “STRUCTURAL ABERRATIONS OF 1p36 IN HEMATOLOGIC MALIGNANCIES”. Journal of Istanbul Faculty of Medicine 86, no. 4 (December 2023): 336-44. https://doi.org/10.26650/IUITFD.1317330.
EndNote Kuru RD, Çırakoğlu A, Yılmaz Ş, Öngören Ş, Ar MC, Soysal T, Deviren A, Tarkan Argüden Y (December 1, 2023) STRUCTURAL ABERRATIONS OF 1p36 IN HEMATOLOGIC MALIGNANCIES. Journal of Istanbul Faculty of Medicine 86 4 336–344.
IEEE R. D. Kuru, “STRUCTURAL ABERRATIONS OF 1p36 IN HEMATOLOGIC MALIGNANCIES”, İst Tıp Fak Derg, vol. 86, no. 4, pp. 336–344, 2023, doi: 10.26650/IUITFD.1317330.
ISNAD Kuru, Rahiye Dilhan et al. “STRUCTURAL ABERRATIONS OF 1p36 IN HEMATOLOGIC MALIGNANCIES”. Journal of Istanbul Faculty of Medicine 86/4 (December 2023), 336-344. https://doi.org/10.26650/IUITFD.1317330.
JAMA Kuru RD, Çırakoğlu A, Yılmaz Ş, Öngören Ş, Ar MC, Soysal T, Deviren A, Tarkan Argüden Y. STRUCTURAL ABERRATIONS OF 1p36 IN HEMATOLOGIC MALIGNANCIES. İst Tıp Fak Derg. 2023;86:336–344.
MLA Kuru, Rahiye Dilhan et al. “STRUCTURAL ABERRATIONS OF 1p36 IN HEMATOLOGIC MALIGNANCIES”. Journal of Istanbul Faculty of Medicine, vol. 86, no. 4, 2023, pp. 336-44, doi:10.26650/IUITFD.1317330.
Vancouver Kuru RD, Çırakoğlu A, Yılmaz Ş, Öngören Ş, Ar MC, Soysal T, Deviren A, Tarkan Argüden Y. STRUCTURAL ABERRATIONS OF 1p36 IN HEMATOLOGIC MALIGNANCIES. İst Tıp Fak Derg. 2023;86(4):336-44.
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