del(7)(p11-15) solely

2017-06-01   Adriana Zamecnikova 

1.Kuwait Cancer Control Center, Department of Hematology, Laboratory of Cancer Genetics, Kuwait;


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.

Clinics and Pathology


Myeloid malignancies and acute lymphoblastic leukemia (ALL).


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.


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.


Represents as interstitial (9 cases) or terminal deletion (18 patients) with various breakpoints.


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

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


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.


Pubmed IDLast YearTitleAuthors
15990151992T-cell lymphoblastic lymphoma with eosinophilia associated with subsequent myeloid malignancy.Abruzzo LV et al
166871732007Analysis of complex chromosomal rearrangements in adult patients with MDS and AML by multicolor FISH.Babicka L et al
129707862003t(5;14)/HOX11L2-positive T-cell acute lymphoblastic leukemia. A collaborative study of the Groupe Français de Cytogénétique Hématologique (GFCH).Berger R et al
22938821990Cytogenetic studies of 44 T-cell acute lymphoblastic leukemias.Berger R et al
115872052001A new recurrent and specific cryptic translocation, t(5;14)(q35;q32), is associated with expression of the Hox11L2 gene in T acute lymphoblastic leukemia.Bernard OA et al
66923401984Chromosome patterns in 26 South African children with acute nonlymphocytic leukemia (ANLL).Bernstein R et al
227759852012High frequency of copy number alterations in myeloid leukaemia of Down syndrome.Blink M et al
119869372002Clinical features, cytogenetics and outcome in acute lymphoblastic and myeloid leukaemia of infancy: report from the MRC Childhood Leukaemia working party.Chessells JM et al
149992942004Deletion of 7p or monosomy 7 in pediatric acute lymphoblastic leukemia is an adverse prognostic factor: a report from the Children's Cancer Group.Heerema NA et al
25861831989Chromosomal and immunophenotypic patterns in T cell acute lymphoblastic leukemia (T ALL) and lymphoblastic lymphoma (LBL).Kaneko Y et al
114174832001Deletions of PURA, at 5q31, and PURB, at 7p13, in myelodysplastic syndrome and progression to acute myelogenous leukemia.Lezon-Geyda K et al
119642742002Distinct clinical outcomes for cytogenetic abnormalities evolving from aplastic anemia.Maciejewski JP et al
29171201989Characterization of deletions of chromosome 7 short arm occurring as primary karyotypic anomaly in acute myeloid leukaemia.Mecucci C et al
198381942009Rearrangement of CRLF2 in B-progenitor- and Down syndrome-associated acute lymphoblastic leukemia.Mullighan CG et al
27132751989Deletion of the short arm of chromosome 7 in chronic monocytic leukaemia undergoing blast cell transformation.Obeid D et al
85044041993Clinical and cytogenetic significance of myelodysplastic syndromes with disease evolution.Ohyashiki K et al
20957021990Cytogenetic survey of sixty-one patients with preleukemic syndrome including myeloproliferative and myelodysplastic diseases.Palka G et al
82550961993Therapy-related myelodysplasia and acute myeloid leukemia. Cytogenetic characteristics of 115 consecutive cases and risk in seven cohorts of patients treated intensively for malignant diseases in the Copenhagen series.Pedersen-Bjergaard J et al
196411902009Deregulated expression of cytokine receptor gene, CRLF2, is involved in lymphoid transformation in B-cell precursor acute lymphoblastic leukemia.Russell LJ et al
252610972015Novel gene targets detected by genomic profiling in a consecutive series of 126 adults with acute lymphoblastic leukemia.Safavi S et al
38552851985Chromosomal alterations in acute leukemia patients studied with improved culture methods.Testa JR et al
90903891997Hidden chromosome abnormalities in haematological malignancies detected by multicolour spectral karyotyping.Veldman T et al
37081581986Refined chromosome analysis as an independent prognostic indicator in de novo myelodysplastic syndromes.Yunis JJ et al


Class disease

Atlas Image
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. u2013 Courtesy Adriana Zamecnikova


Adriana Zamecnikova

del(7)(p11-15) solely

Atlas Genet Cytogenet Oncol Haematol. 2017-06-01

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