Atlas of Genetics and Cytogenetics in Oncology and Haematology

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del(7)(p11-15) solely

Written2017-06Adriana Zamecnikova
Kuwait Cancer Control Center, Department of Hematology, Laboratory of Cancer Genetics, Kuwait;

Abstract Complete or partial loss of chromosome 7 is a recurrent cytogenetic abnormality that may be observed in both de novo and therapy-related hematopoietic disorders. It predominantly presents as monosomy 7 or deletion of the long arm of chromosome 7, often associated with an unfavorable prognosis. Deletions of the short arm of chromosome 7, originated from either a terminal or an interstitial deletion are less frequent and their pathological significance is less well characterized.

Keywords Monosomy 7; 7p deletions; gene deletions; tumor suppressor genes.

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ICD-Topo C420,C421,C424
ICD-Morpho 9975/3 Chronic myelogenous leukaemia, BCR-ABL1 positive; Myeloproliferative neoplasm, unclassifiable; Myelodysplastic/myeloproliferative neoplasm, unclassifiable
ICD-Morpho 9975/3 Chronic myelogenous leukaemia, BCR-ABL1 positive; Myeloproliferative neoplasm, unclassifiable; Myelodysplastic/myeloproliferative neoplasm, unclassifiable
ICD-Morpho 9980/3 Refractory anemia
ICD-Morpho 9983/3 Refractory anaemia with excess blasts
ICD-Morpho 9945/3 Chronic myelomonocytic leukaemia
ICD-Morpho 9872/3 AML with minimal differentiation; Myeloid sarcoma
ICD-Morpho 9873/3 AML without maturation
ICD-Morpho 9874/3 AML with maturation
ICD-Morpho 9867/3 Acute myelomonocytic leukaemia
ICD-Morpho 9910/3 Acute megakaryoblastic leukaemia
ICD-Morpho 9920/3 Therapy-related myeloid neoplasms
ICD-Morpho 9861/3 AML with mutated NPM1; AML with mutated CEBPA; Acute myeloid leukaemia, NOS
ICD-Morpho 9811/3 B lymphoblastic leukaemia/lymphoma, NOS
ICD-Morpho 9837/3 T lymphoblastic leukaemia/lymphoma
Atlas_Id 1796
  del(7)(p11-15)  Partial karyotypes showing deletions of the short arms of chromosome 7. Hybridization with Vysis D7S486 (7q31)/CEP 7 probe (Abbott moleculars, US) showing deletion of 7p proximal to chromosome 7 centromere. – Courtesy Adriana Zamecnikova

Clinics and Pathology

Disease Myeloid malignancies and acute lymphoblastic leukemia (ALL).
Etiology Deletion of 7p as the sole abnormality occurs in disorders with myelodysplastic or myeloproliferative features and acute lymphoblastic leukemia, and may therefore affect early hematopoietic progenitor cells.
Epidemiology Myeloproliferative disorders mainly: chronic myeloproliferative disorder in 9 (balanced sex ratio; 4 males and 5 females aged 53 to 79 years old, median age 63 years) (Bernstein et al., 1980; CML Yunis et al., 1986; Obeid et al., 1989; Palka et al., 1990; Rodjer et al., 1990; Ohyashiki et al., 1993; Pedersen-Bjergaard et al., 1993; Lezon-Geyda et al., 2001; Maciejewski et al., 2002) and AML in 10 patients (4 males and 6 females, aged 0 to 80 years, median age 0 years) (Bernstein et al., 1984; Testa et al., 1985; Mecucci et al., 1989; Abruzzo et al., 1992; Veldman et al., 1997; Chessells et al., 2002; Babicka et al., 2007; Blink et al., 2012). Male prevalence and prevalence of T-cell phenotype and in ALL (6 males and 2 females aged 3 to 50 years, median age 25 years) (Kaneko et al., 1989; Berger et al., 1990; Bernard et al., 2001; Berger et al., 2003; Douet-Guilbert et al., 2004; Mullighan et al., 2009; Russell et al., 2009; Safavi et al., 2015). 5 patients with myeloid malignancies had secondary disorders treated for a previous malignancy (Mecucci et al., 1989; Rodjer et al., 1990; Abruzzo et al., 1992; Pedersen-Bjergaard et al., 1993). Three patients were Down syndrome patients (Table 1).
Chronic myeloproliferative disorders
5M/62RA45,XY,-10/46,XY,del(7)(p13p14)       multiple myeloma, chemotherapy
7F/63MDS46,XX,del(7)(p11) 46,XX,-7,+21       multiple myeloma, chemotherapy
Acute myeloid leukemia
13M/47AML-M246,XY,del(7)(p12p21)       Hodgkin disease, chemotherapy, radiotherapy
14F/80AML-M446,XX,del(7)(p12p21)       polycythemia vera, chemotherapy, radiotherapy
15F/11AML46,XX,del(7)(p12)       mature B-cell neoplasm, chemotherapy
Acute lymphoblastic leukemia

Abbreviations: M, male; F, female; CMD, chronic myeloproliferative disorder; RAEB, refractory anemia with excess of blasts; MDS, myelodysplastic syndrome; CMMoL, chronic myelomonocytic leukemia; RA, refractory anemia; AML-M2, acute myeloblastic leukemia with maturation; AML-M1, acute myeloblastic leukemia without maturation; AML-M4, acute myelomonocytic leukemia; AML, acute myeloid leukemia; AML-M7, acute megakaryoblastic leukemia; AML-M5, acute monoblastic leukemia; AML-M0, acute myeloblastic leukemia with minimal differentiation, ALL, acute lymphoblastic leukemia/lymphoblastic lymphoma.
1. Bernstein et al., 1980; 2. Yunis et al., 1986; 3. Obeid et al., 1989; 4. Palka et al., 1990. 5. Rodjer et al., 1990; 6. Ohyashiki et al., 1993; 7. Pedersen-Bjergaard et al., 1993; 8. Lezon et al., 2001; 9. Maciejewski et al., 2002; 10. Bernstein et al., 1984; 11. Testa et al., 1985; 12-14. Mecucci et al., 1989; 15. Abruzzo et al., 1992; 16. Veldman et al., 1997; 17. Chessells et al., 2002; 18. Babicka et al., 2007; 19. Blink et al., 2012; 20. Kaneko et al., 1989; 21. Berger et al., 1990; 22. Bernard et al., 2001; 23. Berger et al., 2003; 24. Douet-Guilbert et al., 2004; 25. Mullighan et al., 2009; 26. Russell et al., 2009; 27. Safavi et al., 2015.
Cytogenetics Represents as interstitial (9 cases) or terminal deletion (18 patients) with various breakpoints.
Prognosis Deletion of 7p, appears to confer increased risk of treatment failure and inferior outcome, same as it observed with monosomy 7 in myeloid malignancies. Similarly, event-free survival and survival for patients with monosomy 7 or del(7p), but not of patients with del(7q), were significantly worse in ALL patients than those lacking these abnormalities suggesting the critical region of loss may be on the p-arm (Mecucci et al., 1989; Heerema et al. 2004).

Genes involved and Proteins

Note Germinal Mutations Deletions of the short arm of chromosome 7 that contains the GLI3 (GLI family zinc finger 3) gene at 7p14.1 are responsible for some cases of Greig cephalopolysyndactyly contiguous gene deletion syndrome, a disorder that affects development of the limbs, head, face that may be associated with intellectual disability. Chromosomal deletion or mutation within the TWIST1 (twist family bHLH transcription factor 1) gene at 7p21.1 is observed in Saethre-Chotzen syndrome associated with intellectual disability and developmental delay.

Result of the chromosomal anomaly

Fusion Protein
Oncogenesis Chromosome 7p deletion is a recurrent cytogenetic abnormality that may be observed at initial presentation or may emerge during disease progression. Terminal or interstitial 7p deletions result in loss of the deleted material, supporting the existence of tumor-suppressor genes in that region. While no consistent region of loss was identified, these chromosomal deletions may contain areas harboring multiple functionally linked genes whose loss of function is thought to be the major event in disease initiation or progression. Most 7p losses involve large chromosomal regions, therefore it is likely that a cluster of cooperating tumor-suppressor genes collectively promote oncogenesis in dosage-dependent manner.


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This paper should be referenced as such :
Adriana Zamecnikova
del(7)(p11-15) solely
Atlas Genet Cytogenet Oncol Haematol. 2018;22(7):298-302.
Free journal version : [ pdf ]   [ DOI ]
On line version :

Translocations implicated (Data extracted from papers in the Atlas)


External links

Mitelman databasedel(7p)
arrayMap (UZH-SIB Zurich)Morph ( 9975/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap (UZH-SIB Zurich)Morph ( 9975/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap (UZH-SIB Zurich)Morph ( 9980/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap (UZH-SIB Zurich)Morph ( 9983/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap (UZH-SIB Zurich)Morph ( 9945/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap (UZH-SIB Zurich)Morph ( 9872/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap (UZH-SIB Zurich)Morph ( 9873/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap (UZH-SIB Zurich)Morph ( 9874/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap (UZH-SIB Zurich)Morph ( 9867/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap (UZH-SIB Zurich)Morph ( 9910/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap (UZH-SIB Zurich)Morph ( 9920/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap (UZH-SIB Zurich)Morph ( 9861/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap (UZH-SIB Zurich)Morph ( 9811/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap (UZH-SIB Zurich)Morph ( 9837/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
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