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Reciprocal translocation

MedGen UID:
83085
•Concept ID:
C0333714
•
Cell or Molecular Dysfunction
Synonym: Reciprocal Translocation
SNOMED CT: Reciprocal translocation (90230001)

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVReciprocal translocation

Professional guidelines

PubMed

Chronic Myeloid Leukemia, Version 2.2024, NCCN Clinical Practice Guidelines in Oncology.
Shah NP, Bhatia R, Altman JK, Amaya M, Begna KH, Berman E, Chan O, Clements J, Collins RH, Curtin PT, DeAngelo DJ, Drazer M, Maness L, Metheny L, Mohan S, Moore JO, Oehler V, Pratz K, Pusic I, Rose MG, Shomali W, Smith BD, Styler M, Talpaz M, Tanaka TN, Tantravahi S, Thompson J, Tsai S, Vaughn J, Welborn J, Yang DT, Sundar H, Gregory K
J Natl Compr Canc Netw 2024 Feb;22(1):43-69. doi: 10.6004/jnccn.2024.0007. PMID: 38394770
Acute Promyelocytic Leukemia: Update on Risk Stratification and Treatment Practices.
Salhotra A, Mei M
Cancer Treat Res 2021;181:45-55. doi: 10.1007/978-3-030-78311-2_3. PMID: 34626354
Chronic Myeloid Leukemia, Version 2.2021, NCCN Clinical Practice Guidelines in Oncology.
Deininger MW, Shah NP, Altman JK, Berman E, Bhatia R, Bhatnagar B, DeAngelo DJ, Gotlib J, Hobbs G, Maness L, Mead M, Metheny L, Mohan S, Moore JO, Naqvi K, Oehler V, Pallera AM, Patnaik M, Pratz K, Pusic I, Rose MG, Smith BD, Snyder DS, Sweet KL, Talpaz M, Thompson J, Yang DT, Gregory KM, Sundar H
J Natl Compr Canc Netw 2020 Oct 1;18(10):1385-1415. doi: 10.6004/jnccn.2020.0047. PMID: 33022644

Recent clinical studies

Etiology

Does reciprocal translocation affect the meiotic segregation products of non-translocation chromosomes?
Yu W, Jin C, Zhang Q, Ni T, Yan J
Hum Fertil (Camb) 2023 Oct;26(4):702-711. Epub 2023 Dec 17 doi: 10.1080/14647273.2023.2262810. PMID: 37961879
Acute Promyelocytic Leukemia: Update on Risk Stratification and Treatment Practices.
Salhotra A, Mei M
Cancer Treat Res 2021;181:45-55. doi: 10.1007/978-3-030-78311-2_3. PMID: 34626354
Chronic Myeloid Leukemia: Modern therapies, current challenges and future directions.
Osman AEG, Deininger MW
Blood Rev 2021 Sep;49:100825. Epub 2021 Mar 16 doi: 10.1016/j.blre.2021.100825. PMID: 33773846Free PMC Article
Role of cancer immunology in chronic myelogenous leukemia.
Ureshino H, Shindo T, Kimura S
Leuk Res 2020 Jan;88:106273. Epub 2019 Nov 18 doi: 10.1016/j.leukres.2019.106273. PMID: 31765938
Translocations, inversions and other chromosome rearrangements.
Morin SJ, Eccles J, Iturriaga A, Zimmerman RS
Fertil Steril 2017 Jan;107(1):19-26. Epub 2016 Oct 25 doi: 10.1016/j.fertnstert.2016.10.013. PMID: 27793378

Diagnosis

Chronic Myeloid Leukemia, Version 2.2024, NCCN Clinical Practice Guidelines in Oncology.
Shah NP, Bhatia R, Altman JK, Amaya M, Begna KH, Berman E, Chan O, Clements J, Collins RH, Curtin PT, DeAngelo DJ, Drazer M, Maness L, Metheny L, Mohan S, Moore JO, Oehler V, Pratz K, Pusic I, Rose MG, Shomali W, Smith BD, Styler M, Talpaz M, Tanaka TN, Tantravahi S, Thompson J, Tsai S, Vaughn J, Welborn J, Yang DT, Sundar H, Gregory K
J Natl Compr Canc Netw 2024 Feb;22(1):43-69. doi: 10.6004/jnccn.2024.0007. PMID: 38394770
Acute Promyelocytic Leukemia: Update on Risk Stratification and Treatment Practices.
Salhotra A, Mei M
Cancer Treat Res 2021;181:45-55. doi: 10.1007/978-3-030-78311-2_3. PMID: 34626354
Chronic Myeloid Leukemia, Version 2.2021, NCCN Clinical Practice Guidelines in Oncology.
Deininger MW, Shah NP, Altman JK, Berman E, Bhatia R, Bhatnagar B, DeAngelo DJ, Gotlib J, Hobbs G, Maness L, Mead M, Metheny L, Mohan S, Moore JO, Naqvi K, Oehler V, Pallera AM, Patnaik M, Pratz K, Pusic I, Rose MG, Smith BD, Snyder DS, Sweet KL, Talpaz M, Thompson J, Yang DT, Gregory KM, Sundar H
J Natl Compr Canc Netw 2020 Oct 1;18(10):1385-1415. doi: 10.6004/jnccn.2020.0047. PMID: 33022644
Role of cancer immunology in chronic myelogenous leukemia.
Ureshino H, Shindo T, Kimura S
Leuk Res 2020 Jan;88:106273. Epub 2019 Nov 18 doi: 10.1016/j.leukres.2019.106273. PMID: 31765938
Translocations, inversions and other chromosome rearrangements.
Morin SJ, Eccles J, Iturriaga A, Zimmerman RS
Fertil Steril 2017 Jan;107(1):19-26. Epub 2016 Oct 25 doi: 10.1016/j.fertnstert.2016.10.013. PMID: 27793378

Therapy

Chronic Myeloid Leukemia, Version 2.2024, NCCN Clinical Practice Guidelines in Oncology.
Shah NP, Bhatia R, Altman JK, Amaya M, Begna KH, Berman E, Chan O, Clements J, Collins RH, Curtin PT, DeAngelo DJ, Drazer M, Maness L, Metheny L, Mohan S, Moore JO, Oehler V, Pratz K, Pusic I, Rose MG, Shomali W, Smith BD, Styler M, Talpaz M, Tanaka TN, Tantravahi S, Thompson J, Tsai S, Vaughn J, Welborn J, Yang DT, Sundar H, Gregory K
J Natl Compr Canc Netw 2024 Feb;22(1):43-69. doi: 10.6004/jnccn.2024.0007. PMID: 38394770
Chronic Myeloid Leukemia: Modern therapies, current challenges and future directions.
Osman AEG, Deininger MW
Blood Rev 2021 Sep;49:100825. Epub 2021 Mar 16 doi: 10.1016/j.blre.2021.100825. PMID: 33773846Free PMC Article
Treatment-free remission and immunity in chronic myeloid leukemia.
Ureshino H
Int J Hematol 2021 May;113(5):642-647. Epub 2021 Mar 2 doi: 10.1007/s12185-021-03117-7. PMID: 33651270
Translocations, inversions and other chromosome rearrangements.
Morin SJ, Eccles J, Iturriaga A, Zimmerman RS
Fertil Steril 2017 Jan;107(1):19-26. Epub 2016 Oct 25 doi: 10.1016/j.fertnstert.2016.10.013. PMID: 27793378
Chronic Myeloid Leukemia--Prognostic Value of Mutations.
Kaleem B, Shahab S, Ahmed N, Shamsi TS
Asian Pac J Cancer Prev 2015;16(17):7415-23. doi: 10.7314/apjcp.2015.16.17.7415. PMID: 26625737

Prognosis

Chronic Myeloid Leukemia: Modern therapies, current challenges and future directions.
Osman AEG, Deininger MW
Blood Rev 2021 Sep;49:100825. Epub 2021 Mar 16 doi: 10.1016/j.blre.2021.100825. PMID: 33773846Free PMC Article
Translocations, inversions and other chromosome rearrangements.
Morin SJ, Eccles J, Iturriaga A, Zimmerman RS
Fertil Steril 2017 Jan;107(1):19-26. Epub 2016 Oct 25 doi: 10.1016/j.fertnstert.2016.10.013. PMID: 27793378
The Philadelphia chromosome in leukemogenesis.
Kang ZJ, Liu YF, Xu LZ, Long ZJ, Huang D, Yang Y, Liu B, Feng JX, Pan YJ, Yan JS, Liu Q
Chin J Cancer 2016 May 27;35:48. doi: 10.1186/s40880-016-0108-0. PMID: 27233483Free PMC Article
Chronic Myeloid Leukemia--Prognostic Value of Mutations.
Kaleem B, Shahab S, Ahmed N, Shamsi TS
Asian Pac J Cancer Prev 2015;16(17):7415-23. doi: 10.7314/apjcp.2015.16.17.7415. PMID: 26625737
Acute promyelocytic leukemia in childhood.
Gregory J, Feusner J
Curr Oncol Rep 2009 Nov;11(6):439-45. doi: 10.1007/s11912-009-0060-0. PMID: 19840521

Clinical prediction guides

Robust evidence reveals the reliable rate of normal/balanced embryos for identifying reciprocal translocation and Robertsonian translocation carriers.
Tian Z, Lian W, Xu L, Long Y, Tang L, Wang H
Zygote 2024 Feb;32(1):58-65. Epub 2023 Dec 12 doi: 10.1017/S0967199423000606. PMID: 38083872
High-resolution PGT-A results in incidental identification of patients with small pathogenic copy number variants.
Leahy D, Marin D, Xu J, Eccles J, Treff NR
J Assist Reprod Genet 2024 Jan;41(1):121-126. Epub 2023 Nov 14 doi: 10.1007/s10815-023-02969-8. PMID: 37957533Free PMC Article
Double-strand breaks induce inverted duplication chromosome rearrangements by a DNA polymerase δ-dependent mechanism.
Al-Zain AM, Nester MR, Ahmed I, Symington LS
Nat Commun 2023 Nov 2;14(1):7020. doi: 10.1038/s41467-023-42640-5. PMID: 37919272Free PMC Article
Translocations, inversions and other chromosome rearrangements.
Morin SJ, Eccles J, Iturriaga A, Zimmerman RS
Fertil Steril 2017 Jan;107(1):19-26. Epub 2016 Oct 25 doi: 10.1016/j.fertnstert.2016.10.013. PMID: 27793378
The Philadelphia chromosome in leukemogenesis.
Kang ZJ, Liu YF, Xu LZ, Long ZJ, Huang D, Yang Y, Liu B, Feng JX, Pan YJ, Yan JS, Liu Q
Chin J Cancer 2016 May 27;35:48. doi: 10.1186/s40880-016-0108-0. PMID: 27233483Free PMC Article

Recent systematic reviews

Reciprocal translocation and Robertsonian translocation in relation to semen parameters: A retrospective study and systematic review.
Chen X, Zhou C
Andrologia 2022 Feb;54(1):e14262. Epub 2021 Oct 2 doi: 10.1111/and.14262. PMID: 34599520
Successful birth after preimplantation genetic testing for a couple with two different reciprocal translocations and review of the literature.
Liu D, Chen C, Zhang X, Dong M, He T, Dong Y, Lu J, Yu L, Yang C, Liu F
Reprod Biol Endocrinol 2021 Apr 20;19(1):58. doi: 10.1186/s12958-021-00731-2. PMID: 33879178Free PMC Article
Management of recurrent pregnancy loss associated with a parental carrier of a reciprocal translocation: a systematic review.
Hirshfeld-Cytron J, Sugiura-Ogasawara M, Stephenson MD
Semin Reprod Med 2011 Nov;29(6):470-81. Epub 2011 Dec 8 doi: 10.1055/s-0031-1293201. PMID: 22161460
Homozygosity for constitutional chromosomal rearrangements: a systematic review with reference to origin, ascertainment and phenotype.
O'Neill ID
J Hum Genet 2010 Sep;55(9):559-64. Epub 2010 Jun 24 doi: 10.1038/jhg.2010.80. PMID: 20574425

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