MLL-MLLT10 fusion in acute monoblastic leukemia: variant complex rearrangements and 11q proximal breakpoint heterogeneity

Cytogenetic studies of acute monoblastic leukemia cases presenting MLL-MLLT10 (alias MLL-AF10) fusion show a broad heterogeneity of chromosomal breakpoints. We present two new pediatric cases (French-American-British type M5) with MLL-MLLT10 fusion, which we studied with fluorescence in situ hybridization. In both we detected a paracentric inversion of the 11q region that translocated onto chromosome 10p12; one case displayed a variant complex pattern. We review the cytogenetic molecular data concerning the proximal inversion breakpoint of 11q and confirm its heterogeneit

Indigenous case of mycetoma by Actinomadura madurae in Paraná (Entre Ríos, Argentina): case report and literature review of the argentinian casuistry

El micetoma es una infección granulomatosa crónica que involucra tejidos cutáneos, subcutáneos y eventualmente músculo y hueso. Puede ser causada por bacterias Gram positivas filamentosas (actinomicetomas) o por hongos (eumicetomas). Es una infección endémica de zonas subtropicales con baja humedad relativa. El objetivo de este trabajo es el de presentar un caso de actinomicetoma causado por Actinomadura madurae autóctono de la ciudad de Paraná (Entre Ríos) con el fin de demostrar que pueden darse casos esporádicos por fuera de las zonas endémicas descritas. Además, se realizó una revisión bibliográfica de los casos de micetoma descritos en Argentina y se los comparó con el caso reportado.Mycetoma is a chronic granulomatous infection involving skin, subcutaneous tissue and eventualy muscle and bone. It can be caused by Gram positive filamentous bacteria (actinomycetomas) or fungi (eumicetomas). It is an endemic infection in subtropical areas with low relative humidity. The aim of this work is to present a case of actinomycetoma caused by Actinomadura madurae in a patient from Paraná city (Entre Rios) to demonstrate that sporadic mycetoma cases may occur outside the described endemic areas. In addition, a literature review of Argentinian mycetoma cases was performed.Fil: Dudiuk, Catiana Beatriz. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Santa Fe; Argentina. Universidad Nacional del Litoral. Facultad de Bioquímica y Ciencias Biológicas; ArgentinaFil: Theill, L.. Universidad Nacional del Litoral. Facultad de Bioquímica y Ciencias Biológicas; ArgentinaFil: Moyano, Susana. Laboratorio Privado Avenida. Paraná, Entre Ríos; ArgentinaFil: Barbagelata, María Sol. Universidad Nacional del Litoral. Facultad de Bioquímica y Ciencias Biológicas; ArgentinaFil: Leonardelli, Florencia. Universidad Nacional del Litoral. Facultad de Bioquímica y Ciencias Biológicas; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Santa Fe. Unidad de Administración Territorial; ArgentinaFil: Macedo, Daiana. Universidad Nacional del Litoral. Facultad de Bioquímica y Ciencias Biológicas; ArgentinaFil: Latorre Rapella, María Gabriela. Universidad Nacional del Litoral. Facultad de Bioquímica y Ciencias Biológicas; ArgentinaFil: Acosta, A.. Laboratorio Privado Avenida. Paraná, Entre Ríos; ArgentinaFil: Gamarra, S.. Universidad Nacional del Litoral. Facultad de Bioquímica y Ciencias Biológicas; ArgentinaFil: Garcia, Guillermo Manuel. Universidad Nacional del Litoral. Facultad de Bioquímica y Ciencias Biológicas; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Santa Fe; Argentin

Caratterizzazione citogenetica di una traslocazione sbilanciata 17/21 in JMML

7noneMORERIO C; RAPELLA A; TASSANO E; PANARELLO C; ZECCA M; MASERATI E; PASQUALI F.Morerio, C; Rapella, A; Tassano, E; Panarello, C; Zecca, M; Maserati, Emanuela; Pasquali, Francesc

17Q21-QTER TRYSOMY IS AN INDICATOR OF POOR PROGNOSIS IN ACUTE MYELOGENOUS LEUKAEMIA

A reciprocal translocation (9;11) is often found in acute myeloid leukemia (AML), mostly of the M5a type. We report a case of a child with AML, in whom t(9;11) was observed at diagnosis as the sole structural abnormality, together with trisomies 19 and 21. The diagnosis was AML evolving from a myelodysplastic syndrome (MDS), and the blast morphology was undifferentiated. Chemotherapy failed to induce morphological remission and the patient's condition soon worsened. A subclone appeared and expanded during the course of the disease, with an additional unbalanced translocation (1;17) leading to trisomy of the long arm of chromosome 17 (17q). The data available from the literature on acquired anomalies involving 17q and our observation led us to postulate a specific link between the gain of 17q and complete chemoresistance

17q21-qter trisomy is an indicator of poor prognosis in acute myelogenous leukemia

A reciprocal translocation (9;11) is often found in acute myeloid leukemia (AML), mostly of the M5a type. We report a case of a child with AML, in whom t(9;11) was observed at diagnosis as the sole structural abnormality, together with trisomies 19 and 21. The diagnosis was AML evolving from a myelodysplastic syndrome (MDS), and the blast morphology was undifferentiated. Chemotherapy failed to induce morphological remission and the patient's condition soon worsened. A subclone appeared and expanded during the course of the disease, with an additional unbalanced translocation (1;17) leading to trisomy of the long arm of chromosome 17 (17q). The data available from the literature on acquired anomalies involving 17q and our observation led us to postulate a specific link between the gain of 17q and complete chemoresistance

HCMOGT-1 IS A NOVEL FUSION PARTNER TO PDGFRB IN JUVENILE MYELOMONOCYTIC LEUCEMIA WITH T(5;17)(Q33;P11.2)

PDGFRB, a transmembrane tyrosine kinase receptor for platelet-derived growth factor, is constitutively activated by gene fusion with different partners in myeloproliferative/myelodysplastic disorders with peculiar clinical characteristics. Six alternative partner genes have been described thus far. In this study, we report the molecular cloning of a novel translocation t(5;17)(q33;p11.2) in a case of juvenile myelomonocytic leukemia. The novel partner gene was identified as HCMOGT-1 using 5\u2032-rapid amplification of cDNA ends; fluorescence in situ hybridization and reverse transcriptase-PCR analyses confirmed that the translocation resulted in PDGFRB/HCMOGT-1 fusion. We show that the breakpoint of PDGFRB occurred at the same site of all previously reported PDGFRB translocations