A unique 8;16 translocation in two infants with poorly differentiated monoblastic leukemia

Bernstein, R; Pinto, M. R.; Spector, I.; Macdougall, Lorna G.

doi:10.1016/0165-4608(87)90101-4

Cited by 58 publications

(28 citation statements)

References 23 publications

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“…One patient was 15 years old, nine patients were from 30 to 49 years old, 11 from 50 to 69 years old and nine more than 70 years old. Three cases of congenital AML with t(8;16)(p11;p13) have been described, 22,23 but none was included in our series. Comprehensive study of MYST3-linked AML C Gervais et al…”

Section: Resultsmentioning

confidence: 99%

Acute myeloid leukaemia with 8p11 (MYST3) rearrangement: an integrated cytologic, cytogenetic and molecular study by the groupe francophone de cytogénétique hématologique

et al. 2008

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Thirty cases of acute myeloid leukaemia (AML) with MYST histone acetyltransferase 3 (MYST3) rearrangement were collected in a retrospective study from 14 centres in France and Belgium. The mean age at diagnosis was 59.4 years and 67% of the patients were females. Most cases (77%) were secondary to solid cancer (57%), haematological malignancy (35%) or both (8%), and appeared 25 months after the primary disease. Clinically, cutaneous localization and disseminated intravascular coagulation were present in 30 and 40% of the cases, respectively. AMLs were myelomonocytic (7%) or monocytic (93%), with erythrophagocytosis (75%) and cytoplasmic vacuoles (75%). Immunophenotype showed no particularity compared with monocytic leukaemia without MYST3 abnormality. Twenty-eight cases carried t(8;16)(p11;p13) with MYST3-CREBBP fusion, one case carried a variant t(8;22)(p11;q13) and one case carried a t(8;19)(p11;q13). Type I (MYST3 exon 16-CREBBP exon 3) was the most frequent MYST3-CREBBP fusion transcript (65%). MYST3 rearrangement was associated with a poor prognosis, as 50% of patients deceased during the first 10 months. All those particular clinical, cytologic, cytogenetic, molecular and prognostic characteristics of AML with MYST3 rearrangement may have allowed an individualization into the World Health Organization classification.

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Section: Resultsmentioning

confidence: 99%

Acute myeloid leukaemia with 8p11 (MYST3) rearrangement: an integrated cytologic, cytogenetic and molecular study by the groupe francophone de cytogénétique hématologique

et al. 2008

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“…This 8p11-12 myeloproliferative disorder is phenotypically distinct from acute monoblastic and myelomonocytic leukemia with t(8;16)(p11;p13) (Bernstein et al, 1987;Heim et al, 1987;LaõÈ et al, 1987;Mitelman and Heim, 1992;Stark et al, 1995;Rodrigues Pereira Velloso et al, 1996;Sainati et al, 1996), and with t(8;22)(p11;q13) (LaõÈ et al, 1992), respectively. In addition, the breakpoints of t(8;16) and t(8;22) are dierent from each other, and are both localized centromeric to the breakpoint involved in MPD.…”

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confidence: 99%

“…The short arm of chromosome 8, region p11-12, is involved in reciprocal translocations in acute myeloid leukemia (AML), subtype M5, and myelomonocytic leukemias with t(8;14) (p11;q11.1) (Slovak et al, 1991), t(8;22)(p11;q13) (LaõÈ et al, 1992), and t(8;16)(p11;p13) (Bernstein et al, 1987;Heim et al, 1987;LaõÈ et al, 1987;Mitelman and Heim, 1992;Stark et al, 1995;Rodrigues Pereira Velloso et al, 1996;Sainati et al, 1996), respectively. In the latter, the 8p11 gene involved, MOZ (monocytic leukemia zinc ®nger protein), has been identi®ed recently (Borrow et al, 1996).…”

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confidence: 99%

t(6;8), t(8;9) and t(8;13) translocations associated with stem cell myeloproliferative disorders have close or identical breakpoints in chromosome region 8p11-12

et al. 1998

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“…(Raimondi et al, 1999). Although there are reports of fatal CL with the t(8;16) (Bernstein et al, 1987), the case we have described and a small number of other published cases with the t(8;16) translocation in newborn leukaemia (Sainati et al, 1996) suggest that spontaneous remission or a good response to therapy are possible. The case we report here had a variant 8;16 translocation.…”

Section: Case Reportmentioning

confidence: 88%

Spontaneous regression of congenital leukaemia with an 8;16 translocation

et al. 2000

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Summary. Congenital leukaemia (CL) is a rare disorder that presents with extramedullary infiltrates and a myeloid phenotype. CL can progress rapidly without adequate treatment, but, paradoxically, may also remit spontaneously. Because of the significant toxicity involved in delivering chemotherapy to newborns, it is important to identify those newborns who may not require treatment. We describe an infant who presented at 1 week of age with congenital myeloid leukaemia. Cytogenetic analysis revealed a t(8;16)(q11;p13) translocation. The infant's leukaemia underwent a spontaneous regression. This case further confirms the possibility of spontaneous remission in congenital leukaemia. Moreover, it suggests that the presence of a clonal cytogenetic aberration does not preclude the possibility of a spontaneous regression in CL.Keywords: congenital leukaemia, treatment, chemotherapy, transient leukaemia, t(8;16).Congenital leukaemia (CL) is defined as the appearance of a leukaemic process in the newborn and immediate neonatal period (Weitzman & Grant, 1997). CL is extremely rare and its biology and natural history are poorly understood. The need for, and type of, treatment required in these patients has not been established. There have been several reports of spontaneous remissions in CL (Sainati et al, 1996;Lampkin, 1997), as well as reports of successful treatment of infants with CL using chemotherapy. As anti-leukaemic therapy in infants carries a significant risk for morbidity and mortality, it is important to base treatment decisions in these infants on well-defined criteria. We report a case of congenital leukaemia with a t(8;16) translocation that underwent a spontaneous remission. The implications of this finding and the therapeutic dilemmas raised by this disorder are discussed. CASE REPORTThe patient was the product of a normal full-term pregnancy. At the age of 7 d, partially elevated, purple± blue cutaneous nodules were noted over most of the skin surface. A biopsy of a lesion revealed an infiltration of the dermis by immature haematopoietic cells. Immunohistochemical stains were positive for myeloperoxidase, CD68 and LCA (leucocyte common antigen) and negative for CD1a, s100, CD34, keratin and an (unspecified) pan B marker.On admission, physical examination revealed a well appearing female infant with multiple, partially elevated purplish skin lesions. There was no hepatosplenomegaly or lymphadenopathy.The haemoglobin level was 9´2 g/dl, platelets were 356 Â 10 9 /l. The leucocyte count was 10´7 Â 10 9 /l, with 80% lymphocytes, 13% neutrophils, 3% band forms, 2% monocytes and 2% blasts. A bone marrow aspirate revealed a hypercellular marrow that contained 70±80% myelomonoblasts consistent with an M4 subtype. Immunophenotyping of the bone marrow showed the cells to be positive for HLA-DR, CD11b, CD13, CD 14, CD33, CD 42, CD10 and CD19, and negative for CD34, CD20 and CD2. Cytogenetic studies of the bone marrow revealed an abnormal female karyotype of 46,XX, t(8;16)(q11;p13) in six out of 21 metaphases analy...

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A unique 8;16 translocation in two infants with poorly differentiated monoblastic leukemia

Cited by 58 publications

References 23 publications

Acute myeloid leukaemia with 8p11 (MYST3) rearrangement: an integrated cytologic, cytogenetic and molecular study by the groupe francophone de cytogénétique hématologique

Acute myeloid leukaemia with 8p11 (MYST3) rearrangement: an integrated cytologic, cytogenetic and molecular study by the groupe francophone de cytogénétique hématologique

t(6;8), t(8;9) and t(8;13) translocations associated with stem cell myeloproliferative disorders have close or identical breakpoints in chromosome region 8p11-12

Spontaneous regression of congenital leukaemia with an 8;16 translocation

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