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Dive into the research topics where Silvia Romoli is active.

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Featured researches published by Silvia Romoli.


Leukemia | 2006

TPM3/PDGFRB fusion transcript and its reciprocal in chronic eosinophilic leukemia.

Roberto Rosati; R La Starza; Luigiana Luciano; Paolo Gorello; Caterina Matteucci; Valentina Pierini; Silvia Romoli; Barbara Crescenzi; Bruno Rotoli; M F Martelli; Fabrizio Pane; C. Mecucci

Using metaphase fluorescence in situ hybridization (FISH) to narrow translocation breakpoints and polymerase chain reaction (PCR) to identify genes, we detected the TPM3 gene at 1q21 as a new PDGFRB partner in chronic eosinophilic leukemia (CEL). CEL is defined by a persistent eosinophil count X1.5 10/l with no known underlying causes, organ involvement, evidence of eosinophil clonality or increased blasts. In 30–40% of patients with male predominance and high incidence of hepatomegaly and splenomegaly, CEL is associated with del(4)(q12)/FIP1L1-PDGFRA genomic change. Rare cases show 5q31–q33 rearrangements, in a few of which PDGFRB is involved. Interestingly, a t(1;5)(q21;q33) disrupting PDGFRB has been reported in one case classified as atypical chronic myeloid leukemia (aCML)/CEL. In 1991, a 21-year-old man with CEL showed a 46,XY, t(1;5)(q21;q33) karyotype in 28/29 metaphases. Under a-interferon treatment, which was administered for 10 years, the patient obtained a major cytogenetic response. In April 2002, imatinib therapy provided hematological, cytogenetic and FISH remission, which was maintained until the last checkup in January 2005. Metaphase FISH was performed using a bone marrow sample taken at diagnosis. Cosmid 9-4 for the 30 PDGFRB (green) and cosmid 4-1 for the 50 PDGFRB (red) gave a red/green fusion signal on normal 5, a green signal on der(5) and a red signal on der(1) indicating PDGFRB was rearranged. The long arm of chromosome 1 was examined with a panel of 17 DNA clones mapping at bands 1q21–q23 (from centromere to telomere: RP11-97A5, RP11-235D19, RP11-68I18, RP11-98D18, RP1192M2, RP11-182L11, RP11-128L15, RP11-49N14, RP11-354A16, RP11-216N14, RP11-759F5, RP11-422P24, RP11-144B19, RP11205M9, RP11-350G8, RP11-274N19, RP11-107D16). The breakpoint fell within clone RP11-205M9, which gave three hybridization signals on normal chromosome 1, on der(1) and on der(5). All the other clones gave two hybridization signals: those more centromeric than RP11-205M9 on normal 1 and on der(1), and those more telomeric on normal 1 and on der(5). The RP11-205M9 clone mapping at the 1q21.2 band corresponds to a region that contains the following genes: C1orf43, the ubiquitin associated protein 2-like (UBAP2L) and tropomyosin 3 (TPM3). A TPM3/PDGFRB fusion transcript was amplified by seminested reverse transcriptase (RT)-PCR. Patient RNA was extracted with Trizol (Invitrogen, Carlsbad, CA, USA) from a bone marrow sample taken at diagnosis and retro-transcribed using the Thermoscript RT-PCR System (Invitrogen) (Figure 1a). The first round of amplification was performed with primers TPM3_425F (AGGTGGCTCGTAAGTTGGTG) and PDGFRB_2369R (TAGATGGGTCCTCCTTTGGTG) and the second with primers TPM3_425F and PDGFRBR1 (TAAG CATCTTGACGGCCACT). The product was cloned in pGEM-T Easy Vector System (Promega, Madison, WI, USA). Sequencing confirmed amplification of a chimeric transcript fusing exon 7 of TPM3 isoform 2 (GenBank accession no. NM_153649) with exon 11 of PDGFRB (Figure 1b). The reciprocal PDGFRB/ TPM3 fusion transcript was sought by RT-PCR using primers PDGFRB_1686F (CCGAACATCATCTGGTCTGC) and TPM3v2_1158R (GGATTCGATTGCTGCTTCAG), followed by nested PCR with primers PDGFRB-1810F (AGGAGCAG GAGTTTGAGGTG) and TPM3_919R (GGTGGTGAAAGGA GAAAGCA). We detected and sequenced a PDGFRB/TPM3 fusion transcript joining exon 10 of PDGFRB to exon 8 of TPM3 (data not shown). So one case of imatinib mesylate-sensitive CEL with t(1;5)(q21;q33) is, for the first time, observed to produce TPM3/PDGFRB with its reciprocal PDGFRB/TPM3 fusion. TPM3 is an actin-binding protein whose muscle isoform mediates myosin–actin response to calcium ions in skeletal muscles and whose non-muscle isoform is found in cytoskeletal microfilaments. A heterozygous TPM3 germline mutation is associated with the autosomal dominant form of nemaline myopathy. When fused to tyrosine kinases, TPM3 participates with its 221 NH2-terminal amino acids (encoded by exons 1–7), which contain the coiled-coil dimerization domain. In anaplastic cell lymphomas and in inflammatory myofibroblastic tumors with t(1;2)(q25;p23), TPM3 gene rearranges with ALK (anaplastic cell lymphoma kinase). In colon carcinoma and in papillary thyroid carcinomas, TPM3 rearranges with the nearby neurotrophic tyrosine kinase, receptor, type 1 (NTRK1/1q23) gene. In 20% of human papillary thyroid carcinomas, the H4/ D10S170 gene, at 10q21, is partner of the receptor tyrosine kinase RET in the inv(10)(q11.2q21). Interestingly, the H4/ D10S170 gene is another partner of PDGFRB, in aCML with


British Journal of Haematology | 2006

Acute lymphoblastic leukaemia in Noonan syndrome

Giovanni Roti; Roberta La Starza; Stelvio Ballanti; Barbara Crescenzi; Silvia Romoli; Robin Foà; Marco Tartaglia; Franco Aversa; Massimo F. Martelli; Cristina Mecucci

Smulders, C., Persky, N., Grompe, M., Joenje, H., Pals, G., Ikeda, H., Fox, E.A. & Andrea, A.D. (2002) Biallelic inactivation of BRCA2 in Fanconi anemia. Science, 297, 606–609. MacMillan, M.L., Auerbach, A.D. & Wagner, J.E. (2005) Risk of malignancy in patients with biallelic BRCA2 mutations. Pediatric Blood & Cancer, 44, 539–540. Rosenberg, P.S., Greene, M.H. & Alter, B.P. (2003) Cancer incidence in persons with Fanconi anemia. Blood, 101, 822–826.


Leukemia | 2002

Distinct genomic events in the myeloid and lymphoid lineages in simultaneous presentation of chronic myeloid leukemia and B-chronic lymphocytic leukemia

Barbara Crescenzi; Stefano Sacchi; Roberto Marasca; Paola Temperani; R La Starza; Caterina Matteucci; Goretta Bonacorsi; Silvia Romoli; M F Martelli; C. Mecucci; Giovanni Emilia

Distinct genomic events in the myeloid and lymphoid lineages in simultaneous presentation of chronic myeloid leukemia and B-chronic lymphocytic leukemia


Leukemia | 2006

Genomic gain at 6p21: a new cryptic molecular rearrangement in secondary myelodysplastic syndrome and acute myeloid leukemia

R La Starza; Anna Aventin; Caterina Matteucci; Barbara Crescenzi; Silvia Romoli; Nicoletta Testoni; Valentina Pierini; Stefania Ciolli; Constantina Sambani; Anna Locasciulli; E Di Bona; Marina Lafage-Pochitaloff; M F Martelli; Peter Marynen; C. Mecucci

Fluorescence in situ hybridization and comparative genomic hybridization characterized 6p rearrangements in eight primary and in 10 secondary myeloid disorders (including one patient with Fanconi anemia) and found different molecular lesions in each group. In primary disorders, 6p abnormalities, isolated in six patients, were highly heterogeneous with different breakpoints along the 6p arm. Reciprocal translocations were found in seven. In the 10 patients with secondary acute myeloid leukemia/myelodysplastic syndrome (AML/MDS), the short arm of chromosome 6 was involved in unbalanced translocations in 7. The other three patients showed full or partial trisomy of the 6p arm, that is, i(6)(p10) (one patient) and dup(6)(p) (two patients). In 5/7 patients with unbalanced translocations, DNA sequences were overrepresented at band 6p21 as either cryptic duplications (three patients) or cryptic low-copy gains (two patients). In the eight patients with cytogenetic or cryptic 6p gains, we identified a common overrepresented region extending for 5–6 megabases from the TNF gene to the ETV-7 gene. 6p abnormalities were isolated karyotype changes in four patients. Consequently, in secondary AML/MDS, we hypothesize that 6p gains are major pathogenetic events arising from acquired and/or congenital genomic instability.


Leukemia Research | 2011

MN1-ETV6 fusion gene arising from MDS with 5q-.

Valeria Nofrini; Laura Berchicci; Roberta La Starza; Paolo Gorello; Danika Di Giacomo; Francesco Arcioni; Valentina Pierini; Barbara Crescenzi; Silvia Romoli; Caterina Matteucci; Cristina Mecucci

An isolated 5q− Myelodysplastic Syndrome (MDS), “5q− synrome”, is characterized by a favorable prognosis whereas a eletion of chromosome 5q associated with one additional abnorality seems to confer a shorter median survival even though the rognostic impact of diverse aberrations in addition to 5q− has not een established [1]. Translocation t(12;22)(p13;q11)/MN1-ETV6 has been found in nly 2 cases of MDS [2,3]. The putative MN1-ETV6 transcription facor has transforming activity in vitro and may induce Acute Myeloid eukemia (AML) in mice [4,5]. Here we report the first case of MDS with 5q− and trisomy 21 t diagnosis which developed into secondary MN1-ETV6 positive ML.


Cancer Genetics and Cytogenetics | 2002

Interpretation of the complex karyotype and identification of a new 6p amplicon by integrated comparative genomic hybridization and fluorescence in situ hybridization on the U937-I cell line

Caterina Matteucci; Roberta La Starza; Barbara Crescenzi; Daniela Falzetti; Silvia Romoli; Carla Emiliani; Aldo Orlacchio; Peter Marynen; Massimo F. Martelli; Cristina Mecucci

Molecular cytogenetics is helpful to identify complex and cryptic genomic changes in malignancy. Human leukemic cell lines are an important tool for advancements of biological research on malignant cells, one critical step being characterization of genomic changes. We used fluorescence in situ hybridization and comparative genomic hybridization to refine karyotypic interpretation of the diffuse histiocytic lymphoma derived U937-1 cell line. From this integrated approach, chromosome material involved in nine karyotypic markers and in unbalanced translocations could be identified. Moreover, a previously undetected amplicon emerged within band 6p21. The U937-I is a new in vitro model to study genome amplification and unknown recombinations in leukemic cells, such as those involving the centromeric region of chromosome 1.


Cancer Genetics and Cytogenetics | 2003

Different mechanisms lead to a karyotypically identical t(20;21) in myelodysplastic syndrome and in acute myelocytic leukemia

Caterina Matteucci; Roberta La Starza; Barbara Crescenzi; Silvia Romoli; Alessandra Santoro; Silvana Magrin; Francesco Lauria; Francesco Lo Coco; Massimo F. Martelli; Cristina Mecucci

A new t(20;21)(q11;q11), associated with a deletion on the long arm of chromosome 20, was found in one patient with an acute myelocytic leukemia (AML) and in one with myelodysplastic syndrome (MDS). In both cases deletion was interstitial, extending from band q11 to band q13, as shown by comparative genomic hybridization (CGH) and fluorescence in situ hybridization (FISH). FISH analysis with whole arm paints, subtelomeric probes, and locus-specific probes for the long arms of chromosomes 20 and 21 revealed in patient 1 a reciprocal translocation between the deleted 20q and the long arm of chromosome 21, that is, del(20)(q11q13)t(20;21)(q11;q11), and in patient 2, material from 21q was inserted into the deleted 20q, that is, del(20)(q11q13)ins(20;21)(q11;q11q22). This is the first identification of a complex 20;21 rearrangement in MDS/AML. Deletion at 20q and juxtaposition between 20q11 and 21q11 appear to be the critical genomic events.


Cancer Genetics and Cytogenetics | 2009

A NUP98-positive acute myeloid leukemia with a t(11;12)(p15;q13) without HOXC cluster gene involvement.

Roberta La Starza; Lucia Brandimarte; Valentina Pierini; Valeria Nofrini; Paolo Gorello; Barbara Crescenzi; Laura Berchicci; Caterina Matteucci; Silvia Romoli; Donatella Beacci; Roberto Rosati; Massimo F. Martelli; Cristina Mecucci

We report a case of adult acute myeloid leukemia with a new t(11;12)(p15;q13) underlying a NUP98 rearrangement without HOXC cluster gene involvement. We designed a specific double-color double-fusion FISH assay to discriminate between this t(11;12)(p15;q13) and those producing NUP98-HOXC11 or NUP98-HOXC13. Our fluorescence in situ hybridization (FISH) showed that putative candidate partners mapping 600 kilobases centromeric to HOXC were RARG (retinoic acid receptor gamma), MFSD5 (major facilitator superfamily domain containing 5), and ESPL1 (extra spindle pole bodies homolog 1). It is noteworthy that so far only ESPL1 has been implicated in human cancers. This FISH assay is useful for diagnostic screening of NUP98-positive leukemias.


Haematologica | 2004

Submicroscopic deletions in 5q- associated malignancies

Barbara Crescenzi; Roberta La Starza; Silvia Romoli; Donatella Beacci; Caterina Matteucci; Gianluca Barba; Ana Aventin; Peter Marynen; Stefania Ciolli; Chiara Nozzoli; Massimo F. Martelli; Cristina Mecucci


Haematologica | 2007

Cryptic chromosome 9q34 deletion generates TAF-Iα/CAN and TAF-Iβ/CAN fusion transcripts in acute myeloid leukemia

Roberto Rosati; Roberta La Starza; Gianluca Barba; Paolo Gorello; Valentina Pierini; Caterina Matteucci; Giovanni Roti; Barbara Crescenzi; Silvia Romoli; Teresa Aloisi; Franco Aversa; Massimo F. Martelli; Cristina Mecucci

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Cristina Mecucci

Katholieke Universiteit Leuven

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C. Mecucci

Katholieke Universiteit Leuven

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