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Chromosome 13q Abnormality

MedGen UID:
1743525
•Concept ID:
C5418981
•
Cell or Molecular Dysfunction
Synonyms: 13q Aberration; 13q Abnormality

Definition

An irregularity in the structure of the long arm of chromosome 13. [from NCI]

Professional guidelines

PubMed

Primary myelofibrosis: 2023 update on diagnosis, risk-stratification, and management.
Tefferi A
Am J Hematol 2023 May;98(5):801-821. Epub 2023 Feb 6 doi: 10.1002/ajh.26857. PMID: 36680511
BCL2 and miR-15/16: from gene discovery to treatment.
Pekarsky Y, Balatti V, Croce CM
Cell Death Differ 2018 Jan;25(1):21-26. Epub 2017 Oct 6 doi: 10.1038/cdd.2017.159. PMID: 28984869Free PMC Article
Primary myelofibrosis: 2012 update on diagnosis, risk stratification, and management.
Tefferi A
Am J Hematol 2011 Dec;86(12):1017-26. doi: 10.1002/ajh.22210. PMID: 22086865

Recent clinical studies

Etiology

Primary myelofibrosis: 2023 update on diagnosis, risk-stratification, and management.
Tefferi A
Am J Hematol 2023 May;98(5):801-821. Epub 2023 Feb 6 doi: 10.1002/ajh.26857. PMID: 36680511
Ibrutinib Treatment for First-Line and Relapsed/Refractory Chronic Lymphocytic Leukemia: Final Analysis of the Pivotal Phase Ib/II PCYC-1102 Study.
Byrd JC, Furman RR, Coutre SE, Flinn IW, Burger JA, Blum K, Sharman JP, Wierda W, Zhao W, Heerema NA, Luan Y, Liu EA, Dean JP, O'Brien S
Clin Cancer Res 2020 Aug 1;26(15):3918-3927. Epub 2020 Mar 24 doi: 10.1158/1078-0432.CCR-19-2856. PMID: 32209572Free PMC Article
Patients with retinoblastoma and chromosome 13q deletions have increased chemotherapy-related toxicities.
Brennan RC, Qaddoumi I, Billups CA, Kaluzny T, Furman WL, Wilson MW
Pediatr Blood Cancer 2016 Nov;63(11):1954-8. Epub 2016 Jul 13 doi: 10.1002/pbc.26138. PMID: 27409525Free PMC Article
Myeloproliferative disorders.
Bench AJ, Cross NC, Huntly BJ, Nacheva EP, Green AR
Best Pract Res Clin Haematol 2001 Sep;14(3):531-51. doi: 10.1053/beha.2001.0153. PMID: 11640868
Genomic aberrations and survival in chronic lymphocytic leukemia.
Döhner H, Stilgenbauer S, Benner A, Leupolt E, Kröber A, Bullinger L, Döhner K, Bentz M, Lichter P
N Engl J Med 2000 Dec 28;343(26):1910-6. doi: 10.1056/NEJM200012283432602. PMID: 11136261

Diagnosis

Evaluation of Second Primary Cancer Risk Among Chronic Lymphocytic Leukemia Patients: Multicenter Study.
Sayin S, Kiliacslan E, Yildirim M, Afacan Ozturk HB, Safak Yilmaz E, Albayrak M, Kaptan MK, Ayli M
Asian Pac J Cancer Prev 2023 Jun 1;24(6):1971-1977. doi: 10.31557/APJCP.2023.24.6.1971. PMID: 37378926Free PMC Article
Hypoplastic form of myelodysplastic neoplasm.
Votavová H, Lenertová Z, Votava T, Beličková M
Klin Onkol 2023 Spring;36(3):206-214. doi: 10.48095/ccko2023206. PMID: 37353349
Primary myelofibrosis: 2023 update on diagnosis, risk-stratification, and management.
Tefferi A
Am J Hematol 2023 May;98(5):801-821. Epub 2023 Feb 6 doi: 10.1002/ajh.26857. PMID: 36680511
Myeloproliferative disorders.
Bench AJ, Cross NC, Huntly BJ, Nacheva EP, Green AR
Best Pract Res Clin Haematol 2001 Sep;14(3):531-51. doi: 10.1053/beha.2001.0153. PMID: 11640868
Gliomas.
Collins VP
Cancer Surv 1998;32:37-51. PMID: 10489622

Therapy

Primary myelofibrosis: 2023 update on diagnosis, risk-stratification, and management.
Tefferi A
Am J Hematol 2023 May;98(5):801-821. Epub 2023 Feb 6 doi: 10.1002/ajh.26857. PMID: 36680511
Ibrutinib Treatment for First-Line and Relapsed/Refractory Chronic Lymphocytic Leukemia: Final Analysis of the Pivotal Phase Ib/II PCYC-1102 Study.
Byrd JC, Furman RR, Coutre SE, Flinn IW, Burger JA, Blum K, Sharman JP, Wierda W, Zhao W, Heerema NA, Luan Y, Liu EA, Dean JP, O'Brien S
Clin Cancer Res 2020 Aug 1;26(15):3918-3927. Epub 2020 Mar 24 doi: 10.1158/1078-0432.CCR-19-2856. PMID: 32209572Free PMC Article
Recent advances in trigonocephaly.
Mocquard C, Aillet S, Riffaud L
Neurochirurgie 2019 Nov;65(5):246-251. Epub 2019 Sep 27 doi: 10.1016/j.neuchi.2019.09.014. PMID: 31568780
BCL2 and miR-15/16: from gene discovery to treatment.
Pekarsky Y, Balatti V, Croce CM
Cell Death Differ 2018 Jan;25(1):21-26. Epub 2017 Oct 6 doi: 10.1038/cdd.2017.159. PMID: 28984869Free PMC Article
Patients with retinoblastoma and chromosome 13q deletions have increased chemotherapy-related toxicities.
Brennan RC, Qaddoumi I, Billups CA, Kaluzny T, Furman WL, Wilson MW
Pediatr Blood Cancer 2016 Nov;63(11):1954-8. Epub 2016 Jul 13 doi: 10.1002/pbc.26138. PMID: 27409525Free PMC Article

Prognosis

Primary myelofibrosis: 2023 update on diagnosis, risk-stratification, and management.
Tefferi A
Am J Hematol 2023 May;98(5):801-821. Epub 2023 Feb 6 doi: 10.1002/ajh.26857. PMID: 36680511
Ibrutinib Treatment for First-Line and Relapsed/Refractory Chronic Lymphocytic Leukemia: Final Analysis of the Pivotal Phase Ib/II PCYC-1102 Study.
Byrd JC, Furman RR, Coutre SE, Flinn IW, Burger JA, Blum K, Sharman JP, Wierda W, Zhao W, Heerema NA, Luan Y, Liu EA, Dean JP, O'Brien S
Clin Cancer Res 2020 Aug 1;26(15):3918-3927. Epub 2020 Mar 24 doi: 10.1158/1078-0432.CCR-19-2856. PMID: 32209572Free PMC Article
Patients with retinoblastoma and chromosome 13q deletions have increased chemotherapy-related toxicities.
Brennan RC, Qaddoumi I, Billups CA, Kaluzny T, Furman WL, Wilson MW
Pediatr Blood Cancer 2016 Nov;63(11):1954-8. Epub 2016 Jul 13 doi: 10.1002/pbc.26138. PMID: 27409525Free PMC Article
Myeloproliferative disorders.
Bench AJ, Cross NC, Huntly BJ, Nacheva EP, Green AR
Best Pract Res Clin Haematol 2001 Sep;14(3):531-51. doi: 10.1053/beha.2001.0153. PMID: 11640868
Genomic aberrations and survival in chronic lymphocytic leukemia.
Döhner H, Stilgenbauer S, Benner A, Leupolt E, Kröber A, Bullinger L, Döhner K, Bentz M, Lichter P
N Engl J Med 2000 Dec 28;343(26):1910-6. doi: 10.1056/NEJM200012283432602. PMID: 11136261

Clinical prediction guides

Hypoplastic form of myelodysplastic neoplasm.
Votavová H, Lenertová Z, Votava T, Beličková M
Klin Onkol 2023 Spring;36(3):206-214. doi: 10.48095/ccko2023206. PMID: 37353349
Primary myelofibrosis: 2023 update on diagnosis, risk-stratification, and management.
Tefferi A
Am J Hematol 2023 May;98(5):801-821. Epub 2023 Feb 6 doi: 10.1002/ajh.26857. PMID: 36680511
Ibrutinib Treatment for First-Line and Relapsed/Refractory Chronic Lymphocytic Leukemia: Final Analysis of the Pivotal Phase Ib/II PCYC-1102 Study.
Byrd JC, Furman RR, Coutre SE, Flinn IW, Burger JA, Blum K, Sharman JP, Wierda W, Zhao W, Heerema NA, Luan Y, Liu EA, Dean JP, O'Brien S
Clin Cancer Res 2020 Aug 1;26(15):3918-3927. Epub 2020 Mar 24 doi: 10.1158/1078-0432.CCR-19-2856. PMID: 32209572Free PMC Article
Recent advances in trigonocephaly.
Mocquard C, Aillet S, Riffaud L
Neurochirurgie 2019 Nov;65(5):246-251. Epub 2019 Sep 27 doi: 10.1016/j.neuchi.2019.09.014. PMID: 31568780
Genomic aberrations and survival in chronic lymphocytic leukemia.
Döhner H, Stilgenbauer S, Benner A, Leupolt E, Kröber A, Bullinger L, Döhner K, Bentz M, Lichter P
N Engl J Med 2000 Dec 28;343(26):1910-6. doi: 10.1056/NEJM200012283432602. PMID: 11136261

Recent systematic reviews

Biological aspects and candidate biomarkers for psychotic bipolar disorder: A systematic review.
Buoli M, Caldiroli A, Cumerlato Melter C, Serati M, de Nijs J, Altamura AC
Psychiatry Clin Neurosci 2016 Jun;70(6):227-44. Epub 2016 Apr 28 doi: 10.1111/pcn.12386. PMID: 26969211
First trimester diagnosis of 13q-syndrome associated with increased fetal nuchal translucency thickness. Clinical findings and systematic review.
Manolakos E, Peitsidis P, Garas A, Vetro A, Eleftheriades M, Petersen MB, Papoulidis I
Clin Exp Obstet Gynecol 2012;39(1):118-21. PMID: 22675970

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