Acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2): Clinical and biological features and comparison with other acute myeloid leukemias with cytogenetic aberrations involving long arm of chromosome 3

Raya, José María; Martín‐Santos, Taida; Luño, Elisa; Sanzo, Carmen; Pérez-Sirvent, Maria Luz; Such, Esperanza; Navarro, José Tomás; Millá, Fuensanta; Alonso, Esther; Domingo, Alícia; Rozman, Marı́a; Díaz-Beva, Marina; Batlle, Ana; González-de-Villambrosia, Sonia; Tuset, Esperanza; Vallespı́, Teresa; Ortega, Margarita; Bermejo, Alfredo; Martín-Ramos, Marisa; Peri, Valeria; Solé, Françesc; Florensa, Lourdes

doi:10.1179/1607845415y.0000000003

Cited by 13 publications

(6 citation statements)

References 21 publications

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“…Contrast to most reports from Western countries, our patients with AML‐t(3;3)(q21;q26) are more than that of AML‐inv(3)(q21q26). This is very interesting and ethnic factors should be considered.…”

Section: Discussioncontrasting

confidence: 99%

“…In our series, no sex predilection is observed in patients with AML‐inv(3)/t(3;3), as do that of Sun et al and Medeiros et al, but not those of several other studies . Compared with most reports from Western countries, our patients with AML‐inv(3)/t(3;3) seem to be more younger and are more likely to have lower hemoglobin concentrations and higher platelet count.…”

Section: Discussionsupporting

confidence: 64%

“…These AML cases can arise de novo or in patients with myelodysplastic syndrome (MDS), myeloproliferative neoplasms, and myelodysplastic/myeloproliferative neoplasms . It is often associated with multilineage dysplasia and a poor prognosis …”

Section: Introductionmentioning

confidence: 99%

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Unusual findings of acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2): A multicenter study

Gong

Teng

Tang

et al. 2019

Int J Lab Hematology

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Introduction: AML with inv(3)(q21.3q26.2) or t(3;3)(q21.3;q26.2) [inv(3)/t(3;3)] was very rare. Currently, most reports of AML-inv(3)/t(3;3) were from Western countries, and few reports were from Asian countries. Racial differences in patients with AMLinv(3)/t(3;3) are still unknown. Methods:Between January 1996 and April 2018, a total of 37 AML cases with inv(3)/t(3;3) were studied retrospectively. They were collected from 2229 primary AML cases performed with conventional cytogenetic analysis (37/2229, 1.66%). Results:Here, some differences were found by comparing our data with those from Western countries. In our series, AML with inv(3)(q21q26) had a lower incidence than that with t(3;3)(q21;q26) (11 vs 26 cases). Our patients seemed to be more younger (median, 43 years) and have lower hemoglobin concentrations (median, 73 g/L) and higher platelet count (median, 351 × 10 9 /L). A higher incidence of acute monoblastic and monocytic leukemia (45.9%) was observed in our patients. Immunophenotypic studies showed that CD38 (30.8%) was not so frequently expressed as that in the earlier reports. Mutations analysis showed a high frequency of NRAS mutations (45.0%), followed by SF3B1 (15.0%), GATA2 (15.0%), FLT3-ITD (10.0%), C-Kit/D816 (5.0%), and CEBPA (5.0%), without mutation of NPM1(Exon12) or JAK2V617. Conclusion: Ethnic differences do exist between the Chinese and Western patientswith AML-inv(3)/t(3;3), and more attention should be paid involving different ethnic populations and geographic regions. K E Y W O R D S AML, Chinese, inv(3)(q21q26.2), prognosis, t(3;3)(q21;q26.2) | 381 GONG et al.

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Section: Discussioncontrasting

confidence: 99%

Section: Discussionsupporting

confidence: 64%

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Unusual findings of acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2): A multicenter study

Gong

Teng

Tang

et al. 2019

Int J Lab Hematology

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“…When leukemic infiltration was diagnosed, two additional chromosomal abnormalities were observed during disease progression: deletion del(3)(q21q25) and translocation t(4;5)(q26;q33). Translocations or inversions involving 3q21 and 3q26 are associated with high-risk in AML and these patients usually present a poor prognosis [ 19 ]. The translocation t(4;5)(q26;q33) has not yet been described in an ML-DS before.…”

Section: Discussionmentioning

confidence: 99%

A unique set of complex chromosomal abnormalities in an infant with myeloid leukemia associated with Down syndrome

et al. 2017

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BackgroundChildren with Down syndrome (DS) have an enhanced risk of developing acute leukemia, with the most common subtype being acute megakaryoblastic leukemia (AMKL). Myeloid leukemia in Down syndrome (ML-DS) is considered a disease with distinct clinical and biological features. There are few studies focusing on the clonal cytogenetic changes during evolution of ML-DS.Case presentationHere, we describe a complex karyotype involving a previously unreported set of chromosomal abnormalities acquired during progression of ML-DS in an infant boy: derivative der(1)t(1;15)(q24;q23), translocation t(4;5)(q26;q33) and derivative der(15)t(7;15)(p21;q23). Different molecular cytogenetic probes and probesets including whole chromosome painting (WCP) and locus specific probes, as well as, multicolor-FISH and multicolor chromosome banding (MCB) were performed in order to characterize the chromosomal abnormalities involved in this complex karyotype. The patient was treated according to the acute myeloid leukemia-Berlin-Frankfurt-Munich-2004 (AML-BFM 2004) treatment protocol for patients with Down syndrome; however, he experienced a poor clinical outcome.ConclusionThe molecular cytogenetic studies performed, allowed the characterization of novel chromosomal abnormalities in ML-DS and possible candidate genes involved in the leukemogenic process. Our findings suggest that the complex karyotype described here was associated with the poor prognosis.

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“…The immunophenotype is that of immature myeloid cells co-expressing CD34, CD117, CD13, and CD33 with MPO often being negative [14, 15]. Expression of CD7, CD11c, CD11b, and CD123 is frequent, but positivity for CD56 is seen less often [14].…”

Section: Aml With Inv(3)(q213q262) or T(3; 3)(q213;q262); Gata2 mentioning

confidence: 99%

Morphological and Immunophenotypic Clues to the WHO Categories of Acute Myeloid Leukaemia

Bain¹,

Béné

2019

Acta Haematol

119

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Diagnosis and classification of acute myeloid leukaemia (AML) require cytogenetic and molecular genetic investigation. However, while these evaluations are pending, morphology supplemented by immunophenotyping can provide clues to the diagnosis of specific cytogenetic/genetic categories of AML. Most importantly, acute promyelocytic leukaemia can be diagnosed with a high degree of certainty. However, provisional identification of cases associated with t(8; 21), inv(16), t(1; 22), and NPM1 mutation may also be possible. In addition, transient abnormal myelopoiesis of Down’s syndrome can generally be diagnosed morphologically.

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Acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2): Clinical and biological features and comparison with other acute myeloid leukemias with cytogenetic aberrations involving long arm of chromosome 3

Abstract: In an attempt to simplify and bound entities with similar genetic background and clinical behavior, it would be desirable to bring together both subgroups of AML in a single section.

Cited by 13 publications

References 21 publications

Unusual findings of acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2): A multicenter study

Unusual findings of acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2): A multicenter study

A unique set of complex chromosomal abnormalities in an infant with myeloid leukemia associated with Down syndrome

Morphological and Immunophenotypic Clues to the WHO Categories of Acute Myeloid Leukaemia

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