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i(7q)

MedGen UID:
273721
•Concept ID:
C1515651
•
Cell or Molecular Dysfunction
Synonym: Isochromosome 7q

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVi(7q)

Professional guidelines

PubMed

Primary myelofibrosis: 2017 update on diagnosis, risk-stratification, and management.
Tefferi A
Am J Hematol 2016 Dec;91(12):1262-1271. doi: 10.1002/ajh.24592. PMID: 27870387
Primary myelofibrosis: 2013 update on diagnosis, risk-stratification, and management.
Tefferi A
Am J Hematol 2013 Feb;88(2):141-50. doi: 10.1002/ajh.23384. PMID: 23349007
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

The genomic landscape of teenage and young adult T-cell acute lymphoblastic leukemia.
Mansur MB, Furness CL, Nakjang S, Enshaei A, Alpar D, Colman SM, Minto L, Irving J, Poole BV, Noronha EP, Savola S, Iqbal S, Gribben J, Pombo-de-Oliveira MS, Ford TM, Greaves MF, van Delft FW
Cancer Med 2021 Jul;10(14):4864-4873. Epub 2021 Jun 2 doi: 10.1002/cam4.4024. PMID: 34080325Free PMC Article
Cytogenetic as an important tool for diagnosis and prognosis for patients with hypocellular primary myelodysplastic syndrome.
de Souza DC, Fernandez Cde S, Camargo A, Apa AG, da Costa ES, Bouzas LF, Abdelhay E, Fernandez Tde S
Biomed Res Int 2014;2014:542395. Epub 2014 Aug 11 doi: 10.1155/2014/542395. PMID: 25180186Free PMC Article
Chromosomal aberrations in congenital bone marrow failure disorders--an early indicator for leukemogenesis?
Göhring G, Karow A, Steinemann D, Wilkens L, Lichter P, Zeidler C, Niemeyer C, Welte K, Schlegelberger B
Ann Hematol 2007 Oct;86(10):733-9. Epub 2007 Jul 25 doi: 10.1007/s00277-007-0337-z. PMID: 17653548
Hemophagocytic syndrome and hepatosplenic gammadelta T-cell lymphoma with isochromosome 7q and 8 trisomy.
Chin M, Mugishima H, Takamura M, Nagata T, Shichino H, Shimada T, Suzuki T, Harada K, Imashuku S, Yokota S
J Pediatr Hematol Oncol 2004 Jun;26(6):375-8. doi: 10.1097/00043426-200406000-00008. PMID: 15167351
Clonal evolution in marrows of patients with Shwachman-Diamond syndrome: a prospective 5-year follow-up study.
Dror Y, Durie P, Ginzberg H, Herman R, Banerjee A, Champagne M, Shannon K, Malkin D, Freedman MH
Exp Hematol 2002 Jul;30(7):659-69. doi: 10.1016/s0301-472x(02)00815-9. PMID: 12135662

Diagnosis

Cytogenetic as an important tool for diagnosis and prognosis for patients with hypocellular primary myelodysplastic syndrome.
de Souza DC, Fernandez Cde S, Camargo A, Apa AG, da Costa ES, Bouzas LF, Abdelhay E, Fernandez Tde S
Biomed Res Int 2014;2014:542395. Epub 2014 Aug 11 doi: 10.1155/2014/542395. PMID: 25180186Free PMC Article
Hemophagocytic syndrome and hepatosplenic gammadelta T-cell lymphoma with isochromosome 7q and 8 trisomy.
Chin M, Mugishima H, Takamura M, Nagata T, Shichino H, Shimada T, Suzuki T, Harada K, Imashuku S, Yokota S
J Pediatr Hematol Oncol 2004 Jun;26(6):375-8. doi: 10.1097/00043426-200406000-00008. PMID: 15167351
Intermittent 20q- and consistent i(7q) in a patient with Shwachman-Diamond syndrome.
Smith A, Shaw PJ, Webster B, Lammi A, Gaskin K, Diaz S, Sharma P
Pediatr Hematol Oncol 2002 Oct-Nov;19(7):525-8. doi: 10.1080/08880010290097350. PMID: 12217199
Isochromosomes in acute lymphoblastic leukaemia: i(21q) is a significant finding.
Martineau M, Clark R, Farrell DM, Hawkins JM, Moorman AV, Secker-Walker LM
Genes Chromosomes Cancer 1996 Sep;17(1):21-30. doi: 10.1002/(SICI)1098-2264(199609)17:1<21::AID-GCC4>3.0.CO;2-4. PMID: 8889503
Isochromosomes in childhood acute lymphoblastic leukemia: a collaborative study of 83 cases.
Pui CH, Carroll AJ, Raimondi SC, Schell MJ, Head DR, Shuster JJ, Crist WM, Borowitz MJ, Link MP, Behm FG
Blood 1992 May 1;79(9):2384-91. PMID: 1571550

Therapy

Cytogenetic characterization of natural killer cell leukemia.
Yonescu R, Hristov AC, Ahmad A, Overby A, Thomas GH, Griffin CA
Cancer Genet Cytogenet 2008 Jun;183(2):125-30. doi: 10.1016/j.cancergencyto.2008.02.014. PMID: 18503833
Intermittent 20q- and consistent i(7q) in a patient with Shwachman-Diamond syndrome.
Smith A, Shaw PJ, Webster B, Lammi A, Gaskin K, Diaz S, Sharma P
Pediatr Hematol Oncol 2002 Oct-Nov;19(7):525-8. doi: 10.1080/08880010290097350. PMID: 12217199
Cytogenetic abnormalities in natural killer cell lymphoma/leukaemia--is there a consistent pattern?
Wong KF, Zhang YM, Chan JK
Leuk Lymphoma 1999 Jul;34(3-4):241-50. doi: 10.3109/10428199909050949. PMID: 10439361
Malignant myeloid transformation with isochromosome 7q in Shwachman-Diamond syndrome.
Dror Y, Squire J, Durie P, Freedman MH
Leukemia 1998 Oct;12(10):1591-5. doi: 10.1038/sj.leu.2401147. PMID: 9766504
Prognostic significance of the balanced t(1;19) and unbalanced der(19)t(1;19) translocations in acute lymphoblastic leukemia.
Secker-Walker LM, Berger R, Fenaux P, Lai JL, Nelken B, Garson M, Michael PM, Hagemeijer A, Harrison CJ, Kaneko Y
Leukemia 1992 May;6(5):363-9. PMID: 1593901

Prognosis

The RS4;11 cell line as a model for leukaemia with t(4;11)(q21;q23): Revised characterisation of cytogenetic features.
Ragusa D, Makarov EM, Britten O, Moralli D, Green CM, Tosi S
Cancer Rep (Hoboken) 2019 Oct;2(5):e1207. Epub 2019 Aug 7 doi: 10.1002/cnr2.1207. PMID: 32721124Free PMC Article
Cytogenetic as an important tool for diagnosis and prognosis for patients with hypocellular primary myelodysplastic syndrome.
de Souza DC, Fernandez Cde S, Camargo A, Apa AG, da Costa ES, Bouzas LF, Abdelhay E, Fernandez Tde S
Biomed Res Int 2014;2014:542395. Epub 2014 Aug 11 doi: 10.1155/2014/542395. PMID: 25180186Free PMC Article
Chromosomal aberrations in congenital bone marrow failure disorders--an early indicator for leukemogenesis?
Göhring G, Karow A, Steinemann D, Wilkens L, Lichter P, Zeidler C, Niemeyer C, Welte K, Schlegelberger B
Ann Hematol 2007 Oct;86(10):733-9. Epub 2007 Jul 25 doi: 10.1007/s00277-007-0337-z. PMID: 17653548
Clonal evolution in marrows of patients with Shwachman-Diamond syndrome: a prospective 5-year follow-up study.
Dror Y, Durie P, Ginzberg H, Herman R, Banerjee A, Champagne M, Shannon K, Malkin D, Freedman MH
Exp Hematol 2002 Jul;30(7):659-69. doi: 10.1016/s0301-472x(02)00815-9. PMID: 12135662
Isochromosomes in childhood acute lymphoblastic leukemia: a collaborative study of 83 cases.
Pui CH, Carroll AJ, Raimondi SC, Schell MJ, Head DR, Shuster JJ, Crist WM, Borowitz MJ, Link MP, Behm FG
Blood 1992 May 1;79(9):2384-91. PMID: 1571550

Clinical prediction guides

Cytogenetic as an important tool for diagnosis and prognosis for patients with hypocellular primary myelodysplastic syndrome.
de Souza DC, Fernandez Cde S, Camargo A, Apa AG, da Costa ES, Bouzas LF, Abdelhay E, Fernandez Tde S
Biomed Res Int 2014;2014:542395. Epub 2014 Aug 11 doi: 10.1155/2014/542395. PMID: 25180186Free PMC Article
Chromosome analyses of 16 cases of Wilms tumor: different pattern in unfavorable histology.
Peres EM, Savasan S, Cushing B, Abella S, Mohamed AN
Cancer Genet Cytogenet 2004 Jan 1;148(1):66-70. doi: 10.1016/s0165-4608(03)00221-8. PMID: 14697643
Clonal evolution in marrows of patients with Shwachman-Diamond syndrome: a prospective 5-year follow-up study.
Dror Y, Durie P, Ginzberg H, Herman R, Banerjee A, Champagne M, Shannon K, Malkin D, Freedman MH
Exp Hematol 2002 Jul;30(7):659-69. doi: 10.1016/s0301-472x(02)00815-9. PMID: 12135662
Demonstration of acquired hemizygosity and clonality in acute lymphoblastic leukemia with chromosome 7 abnormalities using hypervariable DNA probes.
Yamada T, Shippey CA, Martineau M, Secker-Walker LM
Genes Chromosomes Cancer 1990 Jul;2(2):88-93. doi: 10.1002/gcc.2870020203. PMID: 1980609
Presence of isochromosomes in hematologic diseases.
Labal de Vinuesa M, Slavutsky I, Larripa I
Cancer Genet Cytogenet 1987 Mar;25(1):47-54. doi: 10.1016/0165-4608(87)90158-0. PMID: 3467831

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