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Trisomy 8

MedGen UID:
98158
•Concept ID:
C0432412
•
Cell or Molecular Dysfunction
Synonyms: Chromosome 8 duplication; Chromosome 8, trisomy
SNOMED CT: Trisomy 8 (205649008)
 
Monarch Initiative: MONDO:0043452

Definition

A chromosomal abnormality consisting of the presence of a third copy of chromosome 8 in somatic cells. [from NCI]

Professional guidelines

PubMed

Characteristics, primary treatment, and survival of MDS/MPN with neutrophilia: a population-based study.
Klein SK, Huls GA, Visser O, Kluin-Nelemans HC, Dinmohamed AG
Blood Adv 2023 Dec 26;7(24):7554-7563. doi: 10.1182/bloodadvances.2023011181. PMID: 37934881Free PMC Article
Atypical chronic myeloid leukemia: a rare entity with management challenges.
Dhakal P, Gundabolu K, Amador C, Rayamajhi S, Bhatt VR
Future Oncol 2018 Jan;14(2):177-185. Epub 2017 Dec 11 doi: 10.2217/fon-2017-0334. PMID: 29226717
Diagnosis and management of intestinal Behçet's disease.
Hisamatsu T, Naganuma M, Matsuoka K, Kanai T
Clin J Gastroenterol 2014 Jun;7(3):205-12. Epub 2014 Apr 20 doi: 10.1007/s12328-014-0488-0. PMID: 24883128Free PMC Article

Recent clinical studies

Etiology

Characteristics, primary treatment, and survival of MDS/MPN with neutrophilia: a population-based study.
Klein SK, Huls GA, Visser O, Kluin-Nelemans HC, Dinmohamed AG
Blood Adv 2023 Dec 26;7(24):7554-7563. doi: 10.1182/bloodadvances.2023011181. PMID: 37934881Free PMC Article
GATA2 Deficiency: Predisposition to Myeloid Malignancy and Hematopoietic Cell Transplantation.
Rajput RV, Arnold DE
Curr Hematol Malig Rep 2023 Aug;18(4):89-97. Epub 2023 May 29 doi: 10.1007/s11899-023-00695-7. PMID: 37247092
Genetic abnormalities and pathophysiology of MDS.
Hosono N
Int J Clin Oncol 2019 Aug;24(8):885-892. Epub 2019 May 15 doi: 10.1007/s10147-019-01462-6. PMID: 31093808
Atypical chronic myeloid leukemia: a rare entity with management challenges.
Dhakal P, Gundabolu K, Amador C, Rayamajhi S, Bhatt VR
Future Oncol 2018 Jan;14(2):177-185. Epub 2017 Dec 11 doi: 10.2217/fon-2017-0334. PMID: 29226717
Clinical significance of acquired somatic mutations in aplastic anaemia.
Marsh JC, Mufti GJ
Int J Hematol 2016 Aug;104(2):159-67. Epub 2016 Mar 18 doi: 10.1007/s12185-016-1972-8. PMID: 27084249

Diagnosis

Hepatosplenic T-cell lymphoma: a rare but challenging entity.
Pro B, Allen P, Behdad A
Blood 2020 Oct 29;136(18):2018-2026. doi: 10.1182/blood.2019004118. PMID: 32756940Free PMC Article
Myeloid Sarcoma.
Magdy M, Abdel Karim N, Eldessouki I, Gaber O, Rahouma M, Ghareeb M
Oncol Res Treat 2019;42(4):224-229. Epub 2019 Mar 6 doi: 10.1159/000497210. PMID: 30840960
Aplastic anemia: Etiology, molecular pathogenesis, and emerging concepts.
Shallis RM, Ahmad R, Zeidan AM
Eur J Haematol 2018 Dec;101(6):711-720. Epub 2018 Oct 10 doi: 10.1111/ejh.13153. PMID: 30055055
Primary myelofibrosis but not autoimmune myelofibrosis accompanied by Sjögren's syndrome and primary biliary cirrhosis in a patient with trisomy 8 mosaic: a case report and literature review.
Lu C, Wu X, Wen H, Gao H, Wang C, Yang B, Liang Z, Gao C, Li X
Clin Exp Rheumatol 2018 May-Jun;36 Suppl 112(3):234-236. Epub 2018 May 10 PMID: 29745886
Atypical chronic myeloid leukemia: a rare entity with management challenges.
Dhakal P, Gundabolu K, Amador C, Rayamajhi S, Bhatt VR
Future Oncol 2018 Jan;14(2):177-185. Epub 2017 Dec 11 doi: 10.2217/fon-2017-0334. PMID: 29226717

Therapy

Myeloid Sarcoma.
Magdy M, Abdel Karim N, Eldessouki I, Gaber O, Rahouma M, Ghareeb M
Oncol Res Treat 2019;42(4):224-229. Epub 2019 Mar 6 doi: 10.1159/000497210. PMID: 30840960
Primary myelofibrosis but not autoimmune myelofibrosis accompanied by Sjögren's syndrome and primary biliary cirrhosis in a patient with trisomy 8 mosaic: a case report and literature review.
Lu C, Wu X, Wen H, Gao H, Wang C, Yang B, Liang Z, Gao C, Li X
Clin Exp Rheumatol 2018 May-Jun;36 Suppl 112(3):234-236. Epub 2018 May 10 PMID: 29745886
Atypical chronic myeloid leukemia: a rare entity with management challenges.
Dhakal P, Gundabolu K, Amador C, Rayamajhi S, Bhatt VR
Future Oncol 2018 Jan;14(2):177-185. Epub 2017 Dec 11 doi: 10.2217/fon-2017-0334. PMID: 29226717
Pathology in children of HIV women.
Nso Roca AP, García-Bermejo CG, Larru B, R M, Muñoz Fernández MA, de José MI
Indian J Pediatr 2009 Nov;76(11):1125-30. doi: 10.1007/s12098-009-0225-8. PMID: 20092024
Gamma/delta T cell lymphoma.
Taguchi A, Miyazaki M, Sakuragi S, Shinohara K, Kamei T, Inoue Y
Intern Med 2004 Feb;43(2):120-5. doi: 10.2169/internalmedicine.43.120. PMID: 15005254

Prognosis

Characteristics, primary treatment, and survival of MDS/MPN with neutrophilia: a population-based study.
Klein SK, Huls GA, Visser O, Kluin-Nelemans HC, Dinmohamed AG
Blood Adv 2023 Dec 26;7(24):7554-7563. doi: 10.1182/bloodadvances.2023011181. PMID: 37934881Free PMC Article
GATA2 Deficiency: Predisposition to Myeloid Malignancy and Hematopoietic Cell Transplantation.
Rajput RV, Arnold DE
Curr Hematol Malig Rep 2023 Aug;18(4):89-97. Epub 2023 May 29 doi: 10.1007/s11899-023-00695-7. PMID: 37247092
Somatic genetic alterations predict hematological progression in GATA2 deficiency.
Largeaud L, Collin M, Monselet N, Vergez F, Fregona V, Larcher L, Hirsch P, Duployez N, Bidet A, Luquet I, Bustamante J, Dufrechou S, Prade N, Nolla M, Hamelle C, Tavitian S, Habib C, Meynier M, Bellanne-Chantelot C, Donadieu J, De Fontbrune FS, Fieschi C, Ferster A, Delhommeau F, Delabesse E, Pasquet M
Haematologica 2023 Jun 1;108(6):1515-1529. doi: 10.3324/haematol.2022.282250. PMID: 36727400Free PMC Article
Hepatosplenic T-cell lymphoma: a rare but challenging entity.
Pro B, Allen P, Behdad A
Blood 2020 Oct 29;136(18):2018-2026. doi: 10.1182/blood.2019004118. PMID: 32756940Free PMC Article
Primary myelofibrosis but not autoimmune myelofibrosis accompanied by Sjögren's syndrome and primary biliary cirrhosis in a patient with trisomy 8 mosaic: a case report and literature review.
Lu C, Wu X, Wen H, Gao H, Wang C, Yang B, Liang Z, Gao C, Li X
Clin Exp Rheumatol 2018 May-Jun;36 Suppl 112(3):234-236. Epub 2018 May 10 PMID: 29745886

Clinical prediction guides

Characteristics, primary treatment, and survival of MDS/MPN with neutrophilia: a population-based study.
Klein SK, Huls GA, Visser O, Kluin-Nelemans HC, Dinmohamed AG
Blood Adv 2023 Dec 26;7(24):7554-7563. doi: 10.1182/bloodadvances.2023011181. PMID: 37934881Free PMC Article
GATA2 Deficiency: Predisposition to Myeloid Malignancy and Hematopoietic Cell Transplantation.
Rajput RV, Arnold DE
Curr Hematol Malig Rep 2023 Aug;18(4):89-97. Epub 2023 May 29 doi: 10.1007/s11899-023-00695-7. PMID: 37247092
Primary myelofibrosis but not autoimmune myelofibrosis accompanied by Sjögren's syndrome and primary biliary cirrhosis in a patient with trisomy 8 mosaic: a case report and literature review.
Lu C, Wu X, Wen H, Gao H, Wang C, Yang B, Liang Z, Gao C, Li X
Clin Exp Rheumatol 2018 May-Jun;36 Suppl 112(3):234-236. Epub 2018 May 10 PMID: 29745886
Clinical significance of acquired somatic mutations in aplastic anaemia.
Marsh JC, Mufti GJ
Int J Hematol 2016 Aug;104(2):159-67. Epub 2016 Mar 18 doi: 10.1007/s12185-016-1972-8. PMID: 27084249
Trisomy 8 in human hematologic neoplasia and the c-myc and c-mos oncogenes.
Diaz MO, Le Beau MM, Harden A, Rowley JD
Leuk Res 1985;9(12):1437-42. doi: 10.1016/0145-2126(85)90033-5. PMID: 4079453

Recent systematic reviews

How to treat myelodysplastic syndrome with clinical features resembling Behçet syndrome: a case-based systematic review.
Yilmaz U, Ar MC, Esatoglu SN, Bavunoglu I, Erzin YZ, Hatemi AI, Yildirim S, Hatemi G, Celik AF
Ann Hematol 2020 Jun;99(6):1193-1203. Epub 2020 Mar 5 doi: 10.1007/s00277-020-03951-5. PMID: 32140893
A reappraisal of the association between Behçet's disease, myelodysplastic syndrome and the presence of trisomy 8: a systematic literature review.
Esatoglu SN, Hatemi G, Salihoglu A, Hatemi I, Soysal T, Celik AF
Clin Exp Rheumatol 2015 Nov-Dec;33(6 Suppl 94):S145-51. Epub 2015 Feb 9 PMID: 25664843
Bone marrow transplantation for Behçet's disease: a case report and systematic review of the literature.
Soysal T, Salihoğlu A, Esatoğlu SN, Gültürk E, Eşkazan AE, Hatemi G, Hatemi I, Öngören Aydın Ş, Erzin YZ, Başlar Z, Tüzüner N, Ferhanoğlu B, Çelik AF
Rheumatology (Oxford) 2014 Jun;53(6):1136-41. Epub 2014 Feb 6 doi: 10.1093/rheumatology/ket479. PMID: 24505123

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