+7 or trisomy 7 (solely)

2012-03-01   Wei Wang , Liewei Wang , Cyrus Manavi , Changlee Pang , Patrick Koty , Mark J Pettenati 

1.Department of Pathology, Wake Forest Baptist Health, Medical Center Blvd, Winston-Salem, NC, 27157, USA (WW, CM, CP, PK, MJP); Pediatrics, Medical Genetics, Wake Forest Baptist Health, Medical Center Blvd, Winston-Salem, NC, 27157, USA (PK, MJP)

Clinics and Pathology

Epidemiology

+7 as the sole anomaly is a rare chromosomal abnormality. Only four cases of AML with isolated trisomy 7 have been described in the literature. These cases show various FAB subtypes including M0, M5a, M1, and M4, and two cases of myelodysplastic syndrome (Hagemeijer et al., 1981; Leverger et al., 1988; Bernell et al., 1996; Taketani et al., 2003).

Clinics

In the four reported cases of AML with trisomy 7, there is no clinical history, laboratory results, nor immunophenotypic studies available for analysis. The two cases of myelodysplastic syndrome with isolated trisomy 7 were a 77 year-old female patient diagnosed with myelodysplastic syndrome and a 75 year-old male patient with refractory anemia with excess blasts - 1 (RAEB-1) who later developed acute myeloid leukemia.

Prognosis

Patients with trisomy 7 seem to have very poor prognosis with the survival time of five months and three months in AML cases. In the MDS cases one patient died three months after diagnosis. The second patient developed AML two months after the diagnosis of MDS and died four days after his AML was diagnosed.

Disease

Acute lymphoblastic leukemia (ALL)

Epidemiology

+7 is very rare as a sole chromosomal abnormality in ALL. Only three cases of ALL with isolated trisomy 7 have been previously described in the literature. Patient ages range from 8 months to 44 years old. No detailed clinical and pathological information is available for review (El-Rifai et al., 1997; Whitehead et al., 1998; Ameye et al., 2000).

Prognosis

The prognosis of ALL with trisomy 7 is unknown, largely due to the rarity and lack of follow up of this entity.

Bibliography

Pubmed IDLast YearTitleAuthors
108704812000The value of interphase fluorescence in situ hybridization for the detection of translocation t(12;21) in childhood acute lymphoblastic leukemia.Ameye G et al
89820431996Fluorescence in situ hybridization in combination with morphology detects minimal residual disease in remission and heralds relapse in acute leukaemia.Bernell P et al
91802841997Follow-up of residual disease using metaphase-FISH in patients with acute lymphoblastic leukemia in remission.El-Rifai W et al
69441531981Cytogenetic follow-up of patients with nonlymphocytic leukemia. II. Acute nonlymphocytic leukemia.Hagemeijer A et al
34193901988Cytogenetic study of 130 childhood acute nonlymphocytic leukemias.Leverger G et al
128747802003AML1/RUNX1 mutations are infrequent, but related to AML-M0, acquired trisomy 21, and leukemic transformation in pediatric hematologic malignancies.Taketani T et al
99220411998Accumulation of methotrexate polyglutamates, ploidy and trisomies of both chromosomes 4 and 10 in lymphoblasts from children with B-progenitor cell acute lymphoblastic leukemia: a Pediatric Oncology Group Study.Whitehead VM et al

Summary

Note

Trisomy 7 is a common finding in benign and malignant solid tumors, in several non-neoplastic lesions (for example, osteoarthritis and rheumatoid arthritis), and in apparently normal tissues as well. Trisomy 7 is found in both acute myeloid leukemia (AML) and acute lymphoblastic leukemia (ALL), but very rarely as the sole karyotypic abnormality.
Atlas Image
Trisomy 7 Fluorescence in situ hybridization with the Vysis LSI D7S486 SpectrumOrange/CEP 7 SpectrumGreen probe (Abbott Molecular, US) showing 3 copies of chromosome 7 - Courtesy Adriana Zamecnikova.

Citation

Wei Wang ; Liewei Wang ; Cyrus Manavi ; Changlee Pang ; Patrick Koty ; Mark J Pettenati

+7 or trisomy 7 (solely)

Atlas Genet Cytogenet Oncol Haematol. 2012-03-01

Online version: http://atlasgeneticsoncology.org/haematological/1581/+7-or-trisomy-7-(solely)