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Loss of Chromosome 7q

MedGen UID:
274708
•Concept ID:
C1517990
•
Cell or Molecular Dysfunction
Synonyms: 7q Deletion; del(7q)

Definition

A cytogenic abnormality that refers to loss of all or part of the long arm of chromosome 7 (7q). It is associated with the development of chronic myelomonocytic leukemia with eosinophilia, refractory anemia with excess blasts, refractory anemia with multilineage dysplasia, and refractory anemia with multilineage dysplasia and ringed sideroblasts. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVLoss of Chromosome 7q

Professional guidelines

PubMed

Genome-wide high density single-nucleotide polymorphism array-based karyotyping improves detection of clonal aberrations including der(9) deletion, but does not predict treatment outcomes after imatinib therapy in chronic myeloid leukemia.
Huh J, Jung CW, Kim JW, Kim HJ, Kim SH, Shin MG, Kim YK, Kim HJ, Suh JS, Moon JH, Sohn SK, Nam GH, Lee JE, Kim DH
Ann Hematol 2011 Nov;90(11):1255-64. Epub 2011 Mar 8 doi: 10.1007/s00277-011-1195-2. PMID: 21384125
Molecular cytogenetic analysis of prostatic adenocarcinomas from screening studies : early cancers may contain aggressive genetic features.
Alers JC, Krijtenburg PJ, Vis AN, Hoedemaeker RF, Wildhagen MF, Hop WC, van Der Kwast TT, Schröder FH, Tanke HJ, van Dekken H
Am J Pathol 2001 Feb;158(2):399-406. doi: 10.1016/s0002-9440(10)63983-1. PMID: 11159178Free PMC Article
Increased frequency of dicentric chromosomes in therapy-related MDS and AML compared to de novo disease is significantly related to previous treatment with alkylating agents and suggests a specific susceptibility to chromosome breakage at the centromere.
Andersen MK, Pedersen-Bjergaard J
Leukemia 2000 Jan;14(1):105-11. doi: 10.1038/sj.leu.2401594. PMID: 10637484

Recent clinical studies

Etiology

The significance of CUX1 and chromosome 7 in myeloid malignancies.
Jotte MRM, McNerney ME
Curr Opin Hematol 2022 Mar 1;29(2):92-102. doi: 10.1097/MOH.0000000000000699. PMID: 35084368Free PMC Article
The genetic and molecular pathogenesis of myelodysplastic syndromes.
Shallis RM, Ahmad R, Zeidan AM
Eur J Haematol 2018 Sep;101(3):260-271. Epub 2018 Jul 12 doi: 10.1111/ejh.13092. PMID: 29742289
The enigma of monosomy 7.
Inaba T, Honda H, Matsui H
Blood 2018 Jun 28;131(26):2891-2898. Epub 2018 Apr 3 doi: 10.1182/blood-2017-12-822262. PMID: 29615405
Impact of chromosome alterations, genetic mutations and clonal hematopoiesis of indeterminate potential (CHIP) on the classification and risk stratification of MDS.
Ganguly BB, Banerjee D, Agarwal MB
Blood Cells Mol Dis 2018 Mar;69:90-100. Epub 2017 Oct 16 doi: 10.1016/j.bcmd.2017.10.001. PMID: 29079134
Chromosomal deletions in myelodysplasia.
Boultwood J, Fidler C
Leuk Lymphoma 1995 Mar;17(1-2):71-8. doi: 10.3109/10428199509051705. PMID: 7773164

Diagnosis

The genetic and molecular pathogenesis of myelodysplastic syndromes.
Shallis RM, Ahmad R, Zeidan AM
Eur J Haematol 2018 Sep;101(3):260-271. Epub 2018 Jul 12 doi: 10.1111/ejh.13092. PMID: 29742289
SAMD9 and SAMD9L in inherited predisposition to ataxia, pancytopenia, and myeloid malignancies.
Davidsson J, Puschmann A, Tedgård U, Bryder D, Nilsson L, Cammenga J
Leukemia 2018 May;32(5):1106-1115. Epub 2018 Feb 25 doi: 10.1038/s41375-018-0074-4. PMID: 29535429Free PMC Article
Splenic marginal zone lymphoma.
Piris MA, Onaindía A, Mollejo M
Best Pract Res Clin Haematol 2017 Mar-Jun;30(1-2):56-64. Epub 2016 Nov 5 doi: 10.1016/j.beha.2016.09.005. PMID: 28288718
The molecular pathogenesis of the myelodysplastic syndromes.
Pellagatti A, Boultwood J
Eur J Haematol 2015 Jul;95(1):3-15. Epub 2015 Feb 20 doi: 10.1111/ejh.12515. PMID: 25645650
Splenic marginal zone lymphoma.
Oscier D, Owen R, Johnson S
Blood Rev 2005 Jan;19(1):39-51. doi: 10.1016/j.blre.2004.03.002. PMID: 15572216

Therapy

Single cell T cell landscape and T cell receptor repertoire profiling of AML in context of PD-1 blockade therapy.
Abbas HA, Hao D, Tomczak K, Barrodia P, Im JS, Reville PK, Alaniz Z, Wang W, Wang R, Wang F, Al-Atrash G, Takahashi K, Ning J, Ding M, Beird HC, Mathews JT, Little L, Zhang J, Basu S, Konopleva M, Marques-Piubelli ML, Solis LM, Parra ER, Lu W, Tamegnon A, Garcia-Manero G, Green MR, Sharma P, Allison JP, Kornblau SM, Rai K, Wang L, Daver N, Futreal A
Nat Commun 2021 Oct 18;12(1):6071. doi: 10.1038/s41467-021-26282-z. PMID: 34663807Free PMC Article
Clinical impact of the loss of chromosome 7q on outcomes of patients with myelodysplastic syndromes treated with allogeneic hematopoietic stem cell transplantation.
Itonaga H, Ishiyama K, Aoki K, Aoki J, Ishikawa T, Ohashi K, Fukuda T, Ozawa Y, Ota S, Uchida N, Eto T, Iwato K, Ohno Y, Takanashi M, Ichinohe T, Atsuta Y, Miyazaki Y
Bone Marrow Transplant 2019 Sep;54(9):1471-1481. Epub 2019 Feb 4 doi: 10.1038/s41409-019-0469-5. PMID: 30718803
-7/7q- syndrome in myeloid-lineage hematopoietic malignancies: attempts to understand this complex disease entity.
Honda H, Nagamachi A, Inaba T
Oncogene 2015 May 7;34(19):2413-25. Epub 2014 Jul 7 doi: 10.1038/onc.2014.196. PMID: 24998854
Genetic heterogeneity among uterine leiomyomata: insights into malignant progression.
Hodge JC, Morton CC
Hum Mol Genet 2007 Apr 15;16 Spec No 1:R7-13. doi: 10.1093/hmg/ddm043. PMID: 17613550
Two different classes of therapy-related and de-novo acute myeloid leukemia?
Pedersen-Bjergaard J, Philip P
Cancer Genet Cytogenet 1991 Aug;55(1):119-24. doi: 10.1016/0165-4608(91)90246-q. PMID: 1655239

Prognosis

Clinical impact of the loss of chromosome 7q on outcomes of patients with myelodysplastic syndromes treated with allogeneic hematopoietic stem cell transplantation.
Itonaga H, Ishiyama K, Aoki K, Aoki J, Ishikawa T, Ohashi K, Fukuda T, Ozawa Y, Ota S, Uchida N, Eto T, Iwato K, Ohno Y, Takanashi M, Ichinohe T, Atsuta Y, Miyazaki Y
Bone Marrow Transplant 2019 Sep;54(9):1471-1481. Epub 2019 Feb 4 doi: 10.1038/s41409-019-0469-5. PMID: 30718803
The genetic and molecular pathogenesis of myelodysplastic syndromes.
Shallis RM, Ahmad R, Zeidan AM
Eur J Haematol 2018 Sep;101(3):260-271. Epub 2018 Jul 12 doi: 10.1111/ejh.13092. PMID: 29742289
The molecular pathogenesis of the myelodysplastic syndromes.
Pellagatti A, Boultwood J
Eur J Haematol 2015 Jul;95(1):3-15. Epub 2015 Feb 20 doi: 10.1111/ejh.12515. PMID: 25645650
-7/7q- syndrome in myeloid-lineage hematopoietic malignancies: attempts to understand this complex disease entity.
Honda H, Nagamachi A, Inaba T
Oncogene 2015 May 7;34(19):2413-25. Epub 2014 Jul 7 doi: 10.1038/onc.2014.196. PMID: 24998854
Splenic marginal zone lymphoma.
Oscier D, Owen R, Johnson S
Blood Rev 2005 Jan;19(1):39-51. doi: 10.1016/j.blre.2004.03.002. PMID: 15572216

Clinical prediction guides

Clinical impact of the loss of chromosome 7q on outcomes of patients with myelodysplastic syndromes treated with allogeneic hematopoietic stem cell transplantation.
Itonaga H, Ishiyama K, Aoki K, Aoki J, Ishikawa T, Ohashi K, Fukuda T, Ozawa Y, Ota S, Uchida N, Eto T, Iwato K, Ohno Y, Takanashi M, Ichinohe T, Atsuta Y, Miyazaki Y
Bone Marrow Transplant 2019 Sep;54(9):1471-1481. Epub 2019 Feb 4 doi: 10.1038/s41409-019-0469-5. PMID: 30718803
The genetic and molecular pathogenesis of myelodysplastic syndromes.
Shallis RM, Ahmad R, Zeidan AM
Eur J Haematol 2018 Sep;101(3):260-271. Epub 2018 Jul 12 doi: 10.1111/ejh.13092. PMID: 29742289
Impact of chromosome alterations, genetic mutations and clonal hematopoiesis of indeterminate potential (CHIP) on the classification and risk stratification of MDS.
Ganguly BB, Banerjee D, Agarwal MB
Blood Cells Mol Dis 2018 Mar;69:90-100. Epub 2017 Oct 16 doi: 10.1016/j.bcmd.2017.10.001. PMID: 29079134
-7/7q- syndrome in myeloid-lineage hematopoietic malignancies: attempts to understand this complex disease entity.
Honda H, Nagamachi A, Inaba T
Oncogene 2015 May 7;34(19):2413-25. Epub 2014 Jul 7 doi: 10.1038/onc.2014.196. PMID: 24998854
Chromosomal deletions in myelodysplasia.
Boultwood J, Fidler C
Leuk Lymphoma 1995 Mar;17(1-2):71-8. doi: 10.3109/10428199509051705. PMID: 7773164

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