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Acute Myeloid Leukemia with Minimal Differentiation with translocation t(16;21)(p11;q22): Case report and review of the literature

Authors:

Abstract

The t(16;21)(p11;q22) carry the FUS-ERG fusion genes. This translocation has been described in acute myeloid leukemia (AML) as well as solid tumors, characterized by exhibit poor prognosis and a high relapse rate (1).
The t(16;21)(p11;q22) carry the
FUS-ERG fusion genes. This
translocation has been described in
acute myeloid leukemia (AML) as
well as solid tumors, characterized
by exhibit poor prognosis and a
high relapse rate (1).
Acute Myeloid Leukemia with Minimal Differentiation with translocation
t(16;21)(p11;q22): Case report and review of the literature
We report a 54-years-old Peruvian female patient diagnosed with Acute Myeloid
Leukemia with Minimal Differentiation (M0: French American British Classification:
FAB) with 23%of blast in bone marrow. Immunophenotype of blast cells express
positive markers: CD13,CD71,CD34,CD33,CD45,CD56; negative for: CD64,
HLA-DR, CD14, cMPO, CD15,CD7, and variable expression for: CD17,CD117,
CD11b. Cytogenetic analysis: t(16;21)(p11;q22)in all metaphases. The patient
was induced to chemotherapy based on DAUNOMICIN (40ug/m2) and
CYTOSINE ARABINOSIDE Ara-C:(200m/m2), remaining in complete remission
one month after treatment but relapsed in the third month. She finally died four
months after starting treatment (2).
REFERENCES
1. Noort S, Zimmermann M, Reinhardt D, Cuccuini
W, Pigazzi M, Smith J, et al. Prognostic impact of
t(16;21)(p11;q22)and t(16;21)(q24;q22)in
pediatric AML: A retrospective study by the I-
BFM study group. Blood. 2018 Oct
11;132(15):154892.
2. Zapata-Dongo R. Llimpe Y. Reporte de un caso
con t(16;21)(p11;q22)en Leucemia Mieloide
Aguda mínimamente diferenciada. Acta Cancerol
(Lima). 2015;(October):212.
3. Hancock JM, Zvelebil MJ, Griffith M, Griffith OL.
Mitelman Database (Chromosome Aberrations
and Gene Fusions in Cancer) [Internet].
Dictionary of Bioinformatics and Computational
Biology. 2004 [cited 2020 Oct 11]. Available from:
https://mitelmandatabase.isb-cgc.org/result
4. Ortolani C. Flow Cytometry of Hematological
Malignancies. 2011.
5. Serdlow SH, Campo E, Harris NL, Jaffe ES, Pileri
SA, Stein H, et al. World Health Organization
Classification of Tumours Haematopoietic and
Lymphoid Tissues. 2017.585 p.
OBJETIVES
1. Report a case of AML with minimal
differentiation, immunophenotype data
and t(16;21)(p11;q22).
2. Review the cases with
t(16;21)(p11;q22) in the Mitelman
database.
3. Compare the immunophenotype
results of the case report with those
found in the Mitelman database.
Richard Zapata-Dongo (1),Carlos Llanos-Albornoz (2)& Yesica Llimpe Mitma de Barron (3)
Faculty of Medicine, University of Piura (1) & Peruvian University Cayetano Heredia (2) , Major National University of San Marcos (3), Peru.
richard.zapata@udep.edu.pe
CASE REPORT
TEXTO
CD10-
CD11b+
CD13 +
CD15+
CD18+
CD19-
CD20 -/+
CD33+
CD34+
CD35+
CD38+
CD41+
CD56+
CD59+
CD71+
CD117+
HLA-DR-
HLA-DR+
MPO+
Others
0
10
20
30
80
90
100
Immunophenotypes Mitelman database
Frequently markers
Expression (%)
We search in the Mitelman database:
https://mitelmandatabase.isb-cgc.org/case_search,
and completed the sections abnormality:
t(16;21)(p21;q22), and Morphology: Acute myeloid
leukemia (all subtypes).
The outcomes were selected only whose exhibit
Immunophenotype and cytogenetic data's (n=14).
The immunophenotypic and morphological
characterization of the fourteen cases reviewed
correspond to aberrant cells of the myeloid lineage:
M1(6/14), M2(2/14), M4(3/14), M5 and M7(1/14)
according to FAB classification. Three cases (3/14)
were pediatric patients (median age: 7 years-old)
and eleven cases (11/14) were adult patients
(median age: 38 years-old), the predominant sex
affected was female (10/14) with a 0.4 ratio
(Male/Female). In the flow cytometry analysis clearly,
we can see the expression of the following markers:
CD13,CD33,CD34,CD56 and CD117 (See figure
2)(3).
RESULTS
INTRODUCTION
Figure 1
Here we can see
the karyotype of
the patient:
46,XX,t(16;21)(p
11;q22)[10] in all
metaphases
1 2 3 4 5
6 7 8 11 12
910
13 14 15 17 18
16
19 20 21 X
22
Figure 2
Here we exhibit the markers frequently expressed in 14 cases selected in
Mitelman database. The markers highly expressed were and CD13 (frequently
in all AML, its absence drive to good prognosis), CD33,CD34 and CD117, and
the less frequently were CD59,CD71 and others.
The CD56 co-expressed with CD25,
CD117 and CD123 may predict the
presence of translocation t(16;21)(4).
However, our case only express two of
them as well as the Mitelman database
results. CD13 is commonly expressed in
AML, but its absence has been related
to good prognosis(4).We finally conclude
that the t(16;21) accompanied with the
expression of CD13,CD56 and CD117
conduct to poor prognosis, that explain
why our patient relapsed and finally died
after few month of treatment.
Figure 3
Here we can compare the immunophenotypes
among the markers commonly expressed in
AML M0 and the Mitelman database results
with the report case.
Markers
expressed
AML
with
Minimal
Differentiation (4,5)
t(16;21)(p11;q22) (3)
Case report
CD2 + -/+ (7.14%)
CD4 - (7.14%) -/+
CD7 + - (7.14%)
CD11b + (21.43%) +
CD13 + + (100%) +
CD14 -/+ (7.14%) -
CD15 + (21.43%) -
CD19 + - (7.14%)
CD33 - +(85.71%) +
DD34 + + (85.71%) +
CD38 - + (14.29%)
CD56 + (78.57%) +
CD64 -
CD65 -/+
CD71 + (7.14%) +
CD117 + + (35.71%) -/+
TdT + + (7.14%)
HLA-DR - / + (21,43%) -
MPO + (21.43%) -
CONCLUSIONS
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