Infantile mixed phenotype acute leukemia (bilineal and biphenotypic) with t(10;11)(p12;q23);MLL-MLLT10

Lou, Zhenjun; Zhang, Chengcheng; Tirado, Carlos A; Slone, Tamra; Zheng, Junke; Zaremba, Charles M.; Oliver, Dwight; Chen, Weina

doi:10.1016/j.leukres.2010.02.029

Cited by 7 publications

(6 citation statements)

References 12 publications

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“…Similar to other reports, our case had an aggressive clinical evolution (32)(33)(34)(35). However, whether there is any correlation between prognosis and different types of MLL-AF4 fusion genes (based on their breakpoint regions) remains to be established.…”

Section: Discussionsupporting

confidence: 87%

“…Cases of infant ALL that demonstrated a switch to a monocytoid lineage have been previously reported, harboring distinct genetic lesions, such as the MLL gene translocation with the CREP-binding protein gene (32), or MLLT10 gene (35), or other types of MLL rearrangements (31,33,4), with some of these authors implying that the MLL gene rearrangement occurred in precursor cells having a double differentiation potential (towards either B lymphocytes or monocytes) (35).…”

Section: Discussionmentioning

confidence: 99%

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Infant acute leukemia with lineage switch at relapse expressing a novel t(4;11)(q21;q23) MLL-AF4 fusion transcript

Ivanov¹,

Jitam²,

Grigore³

et al. 2013

Romanian Review of Laboratory Medicine

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Background. A high occurrence of translocation t(4;11)(q21;q23) was reported in infant acute lymphoblastic leukemia (ALL) leading to the fusion of the mixed lineage leukemia (MLL) gene on chromosome 11 and the AF4 gene on chromosome 4. More than 50 distinct MLL-AF4 types of fusion have been previously identified, none of those reported matching the peculiarities found in an infant ALL case to be reported below. Materials and methods. Molecular tests were performed for the detection of TEL-AML1, BCR-ABL(p190), E2A-PBX1, and MLL-AF4 in the peripheral blood sample of a 21 days newborn boy suspected of ALL. An unexpected MLL-AF4 fragment was identified, further purified, and later analyzed by sequencing. Flow cytometry analyses were carried out at diagnosis and relapse on a FACSCanto-II cytometer (Becton-Dickinson). Results. The patient was found to be positive for the MLL-AF4 transcript, with an uncommonly long-sized product and a previously undescribed sequence (in-frame fusion between exon 12 of MLL and exon 4 of the AF4 gene). The immunophenotypic analyses also showed a particular development: while at diagnosis a dominant malignant clone displaying a B lymphoid precursor phenotype was described, at relapse a malignant monocytoid population predominantly expanded. The presence of MLL-AF4 e12-e4 transcript was still manifest at relapse, without other transcript characteristic for myeloid lineage. Conclusions. To our knowledge, this is the first report of a MLL-AF4 rearrangement revealing this complex transcript with new breakpoints in MLL. Its early detection may predict an immunophenotypic switch and may assist the clinicians in designing optimized therapies.

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Section: Discussionsupporting

confidence: 87%

Section: Discussionmentioning

confidence: 99%

Infant acute leukemia with lineage switch at relapse expressing a novel t(4;11)(q21;q23) MLL-AF4 fusion transcript

Ivanov¹,

Jitam²,

Grigore³

et al. 2013

Romanian Review of Laboratory Medicine

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“…Although according to the majority of publications cytoplasmic CD3 expression in a leukemic clone is a necessary marker of T-lineage involvement for MPAL diagnosis [25][26][27], according to the WHO, positivity of surface CD3 antigen is also its alternative approved indicator [15]. Therefore our case, diagnosed on the first day of life, is considered as a rare example of the T-lymphoid/myeloid subtype of MPAL t(v;11q23); kMt2a rearranged [15,26] and supplements the first description by Lou et al of MPAL t(10;11)(p12;q23); kMt2a/Mllt10-positive in a 6-month-old infant [28]. Data on neonatal MPAL are almost non-existent.…”

Section: Discussionsupporting

confidence: 59%

A newborn with congenital mixed phenotype acute leukemia with complex translocation t(10;11)(p12;q23) with KMT2A/MLLT10 rearranged – a report of an extremely rare case

Szpecht¹,

Skalska‐Sadowska²,

Michniewicz³

et al. 2018

cejoi

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neonatal congenital leukemia (Cl) constitutes less than 1% of all childhood leukemia cases and is diagnosed in 1 to 5 per million live births. in the neonatal period acute myeloid leukemia (aMl) is described in 56-64% of cases, acute lymphoblastic leukemia (all) in 21-38% of cases and mixed-phenotype acute leukemia (Mpal) in less than 5% of cases. rearrangements of the mixed-lineage leukemia (kMt2a alias Mll) gene are found in > 70% of infant leukemia cases. the incidence of the most frequent kMt2a rearrangements in newborns with congenital Mpal is unknown. we report a male term newborn with "blueberry muffin" syndrome, which had been noted at birth, as a presenting sign of acute leukemia. eight-color multiparameter flow cytometry showed a blast population corresponding to a myeloid lineage with monocytic differentiation positive for CD33+/CD15+/CD11c+/CD64+/ hLa-dr+/cd4+, negative for mPo-/cd34-/cd19-/cd79a-/cd117-/cd13-/cd14-/cd36-/ccd3-/ cd2-/cd7-, and additionally positive for scd3 (40%). mixed-phenotype acute leukemia according to the world health organization (who) classification was diagnosed with complex translocation t(10;11)(p12;q23) with kMt2a/Mllt10 rearrangement. the patient had an unfavorable response to chemotherapy and died on the 5 th day of life.

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“…The most common translocation is t(4;11)(q21;q23)/ MLL‐MLLT2 followed by t(11;19)(q23;p13)/ MLL‐MLLT1 (Owaidah et al , ; Weir et al , ; Derwich et al , ; Park et al , ; Rubnitz et al , ; Xu et al , ; Matutes et al , ; Yan et al , ). Translocations t(9;11)/ MLL‐MLLT3 and t(10;11)(p12;q23 )/MLL‐MLLT10 have also been reported (Park et al , ; Rubnitz et al , ; Lou et al , ; Matutes et al , ; Zhang et al , ). The MLL translocation may be the only abnormality in the karyotype or may be followed by other secondary cytogenetic abnormalities although no additional genetic lesions common to multiple cases have been described (Swerdlow et al , ).…”

Section: Cytogenetic Changes Associated With Mpal And/or Balmentioning

confidence: 83%

Cytogenetic abnormalities in acute leukaemia of ambiguous lineage: an overview

Manola

2013

Br J Haematol

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Summary Acute leukaemia of ambiguous lineage (ALAL) is a rare complex entity with heterogeneous clinical, immunophenotypic, cytogenetic and molecular genetic features and adverse outcome. According to World Health Organization 2008 classification, ALAL encompasses those leukaemias that show no clear evidence of differentiation along a single lineage. The rarity of ALAL and the lack of uniform diagnostic criteria have made it difficult to establish its cytogenetic features, although cytogenetic analysis reveals clonal chromosomal abnormalities in 59–91% of patients. This article focuses on the significance of cytogenetic analysis in ALAL supporting the importance of cytogenetic analysis in the pathogenesis, diagnosis, prognosis, follow up and treatment selection of ALAL. It reviews in detail the types of chromosomal aberrations, their molecular background, their correlation with immunophenotype and age distribution and their prognostic relevance. It also summarizes some novel chromosome aberrations that have been observed only once. Furthermore, it highlights the ongoing and future research on ALAL in the field of cytogenetics.

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Infantile mixed phenotype acute leukemia (bilineal and biphenotypic) with t(10;11)(p12;q23);MLL-MLLT10

Cited by 7 publications

References 12 publications

Infant acute leukemia with lineage switch at relapse expressing a novel t(4;11)(q21;q23) MLL-AF4 fusion transcript

Infant acute leukemia with lineage switch at relapse expressing a novel t(4;11)(q21;q23) MLL-AF4 fusion transcript

A newborn with congenital mixed phenotype acute leukemia with complex translocation t(10;11)(p12;q23) with KMT2A/MLLT10 rearranged – a report of an extremely rare case

Cytogenetic abnormalities in acute leukaemia of ambiguous lineage: an overview

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