A new case of idic(7)(q11.2) in acute myeloid leukemia

2022-07-26  Cecilia Mariana Zárate~Mariela Carolina Coccé~Georgina Emilia Bendek~Marta Susana Gallego

Laboratorio de Citogenética y Citogenética Molecular, Hospital Italiano de Buenos Aires, Buenos Aires, Argentina~Laboratorio de Citogenética y Citogenética Molecular, Hospital Italiano de Buenos Aires, Buenos Aires, Argentina~Servicio de Hemato-Oncolo

This chromosome aberration is

This chromosome aberration is
Rare

Patient demographics

Sex
Female
Age
65

Clinical findings

Date of diagnosis
4/2017
Wbc
1
Hb
13
Platelets
129
Blasts
40
Immunophenotype

CD34+, CD117+, HLA-DR+, CD13+, CD33+, CD38+, CD45-, CD11b-, CD10-, CD19-, CD4-, CD56- and CD3-.

 

Sample(s) submitted for testing

Sample(s) submitted for testing
Bone Marrow

Conventional cytogenetics

Cultures set up
24h
Mitogen used
No
Banding used

GTW

Karyotypic description

46,XX,idic(7)(q11.2)[9]/46,XX[24]

Provide karyogram

FIGURE 1: Partial Karyotype showing idic(7) on the right.

Fish

Fish phase
Metaphase FISH
Describe probes used, chromosome location, and results

TECHNICS: FISH with probe CEP 7 (D7Z1) SpectrumGreen (Vysis). Abbott Molecular, Des Planes, IL, USA.

RESULTS: The idic(7) shows a significant increase signal respect to the normal chromosome7.

Provide fish image(s)

FIGURE 2: FISH of a metaphase spread with CEP 7. A. The idic(7) shows a significant increase signal respect to the

normal chromosome7. B. Reverse DAPI image of the same metaphase.


Follow up

Treatment
Yes
Describe

First line treatment with azacitidine. The patient did not achieve complete remission. Hence she received a second line therapy with cytarabine and daunorubicin. After 7/3 protocol the complete achieved remision was obtained. The patient received  allogenic transplant and after it, she remains in complete remission.



Complete remission achieved
Yes
Time post diagnosis
44
Relapse
No

Conclusions and relevant comments

Comments

To our knowledge 5 cases of idic(7)(q11.2) have been reported in the literature (Beverstock et al., 19961; Johansson et al., 20012; Persad et al., 2012 https://doi.org/10.4267/2042/47541) All of them were described in adults ranging in age from 66 to 82 years, with acute myeloid leukemia and different subtypes FAB phenotype (M1, M2 and M4). At diagnosis, no additional cytogenetic anomalies were reported. The patients responded favorably to induction chemotherapy.

The present case had AML secondary to MDS syndrome and did not achieve complete remission after induction chemotherapy. The patient underwent a bone marrow transplantation and after 3 years she remains in complete remission.





Article Bibliography

Reference NumberPubmed IDLast YearTitleAuthors
186974191996A case of isodicentric 7p as sole abnormality in a patient with acute myeloid leukemia.Beverstock GC et al
2111702832001Isodicentric 7p, idic(7)(q11.2), in acute myeloid leukemia associated with older age and favorable response to induction chemotherapy: a new clinical entity?Johansson B et al

Citation

Cecilia Mariana Zárate~Mariela Carolina Coccé~Georgina Emilia Bendek~Marta Susana Gallego

A new case of idic(7)(q11.2) in acute myeloid leukemia

Atlas Genet Cytogenet Oncol Haematol. 2022-07-26

Online version: http://atlasgeneticsoncology.org/case-report/209002/files/1645018976_Figure2.png