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102. A sequential approach with imatinib, chemotherapy and transplant for adult Ph+ acute lymphoblastic leukemia: final results of the GIMEMA LAL 0904 study

Author

Chiaretti, S., primary, Vitale, A., additional, Vignetti, M., additional, Piciocchi, A., additional, Fazi, P., additional, Elia, L., additional, Falini, B., additional, Ronco, F., additional, Ferrara, F., additional, De Fabritiis, P., additional, Luppi, M., additional, La Nasa, G., additional, Tedeschi, A., additional, Califano, C., additional, Fanin, R., additional, Dore, F., additional, Mandelli, F., additional, Meloni, G., additional, and Foa, R., additional

Published
2016
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103. Lymphoplasmacytic lymphoma and marginal zone lymphoma: diagnostic challenges

Author

Pileri, S. A., Zinzani, L., Elena Sabattini, Falini, B., Pileri SA, Zinzani L, Sabattini E, and Falini B.

Subjects
Diagnosis, Differential, Ki-67 Antigen, Phenotype, Lymphoma, Mutation, Lymphoplasmacytic lymphoma, Humans, Prognosis, Immunohistochemistry, Chromosomes
Abstract

non disponibile

Published
2005

104. Mutazioni del gene NPM identificano un sottogruppo di pazienti pediatrici con leucemia acuta mieloide e cariotipo normale;un nuovo marcatore di malattia residua minima

Author

Dell' Oro M.G., Cazzaniga G., Mecucci C., Gorello P., Giarin E., MASETTI, RICCARDO, Rossi V., Locatelli F., Martelli M.F., Basso G., Falini B., Biondi A., PESSION, ANDREA, Dell' Oro MG., Cazzaniga G., Mecucci C., Gorello P., Giarin E., Masetti R., Rossi V., Locatelli F., Martelli MF., Basso G., pession A., Falini B., and Biondi A.

Published
2005

105. Marker expression in Peripheral T-Cell Lymphoma Unspecified: Proposal of a Clinical-Pathologic Prognostic Score

Author

PICCALUGA, PIER PAOLO, AGOSTINELLI, CLAUDIO, SABATTINI, ELENA, BACCI, FRANCESCO, ZINZANI, PIER LUIGI, BACCARANI, MICHELE, PILERI, STEFANO, Went P., Gallamini A., Ascani S., Falini B., Motta T., Paulli M., Artusi T., Piccaluga PP., Went P., Agostinelli C., Gallamini A., Ascani S., Sabattini E., Bacci F., Falini B., Motta T., Paulli M., Artusi T., Zinzani PL., Baccarani M., and Pileri SA.

Subjects
Marker Expression, PTCL-NOS
Published
2005

106. Gene Expression analysis of Peripheral T-Cell Lympoma Not Otherwise Specified Reveals the Existance of Two Subgroups Related to Different Celular Counterparts and Recurrent PDGFRA Deregulation

Author

PICCALUGA, PIER PAOLO, AGOSTINELLI, CLAUDIO, TURA, SANTE, ZINZANI, PIER LUIGI, BACCARANI, MICHELE, PILERI, STEFANO, Zupo S., Califano A., Went P., Ascani S., Basso K., Facchetti F., Falini B., Ferrarini M., Gallamini A., Klein U., Novero D., Paulli M., Dalla Favera R., Piccaluga P.P., Agostinelli C., Zupo S., Califano A., Went P., Ascani S., Basso K., Facchetti F., Falini B., Ferrarini M., Gallamini A., Klein U., Novero D., Paulli M., Tura S., Zinzani PL., Baccarani M., Dalla-Favera R., and Pileri SA.

Subjects
PDGFRa, gene expression profiling, PTCL-NOS
Published
2005

107. Immunohistochemical differentiation between follicular lymphoma and nodal marginal zone lymphoma - combined performance of multiple markers

Author

Brand, M. van den, Mathijssen, J.J., Garcia-Garcia, M., Hebeda, K.M., Groenen, P.J.T.A., Falini, B., Serrano, S., Krieken, J.H.J.M. van, Brand, M. van den, Mathijssen, J.J., Garcia-Garcia, M., Hebeda, K.M., Groenen, P.J.T.A., Falini, B., Serrano, S., and Krieken, J.H.J.M. van

Abstract

Contains fulltext : 153070.pdf (publisher's version ) (Open Access)

Published
2015

108. Differences among young adults, adults and elderly chronic myeloid leukemia patients

Author

Castagnetti, F, Gugliotta, G, Baccarani, M, Breccia, M, Specchia, G, Levato, L, Abruzzese, E, Rossi, G, Iurlo, A, Martino, B, Pregno, P, Stagno, F, Cuneo, A, Bonifacio, M, Gobbi, M, Russo, D, Gozzini, A, Tiribelli, M, De Vivo, A, Alimena, G, Cavo, M, Martinelli, G, Pane, F, Saglio, G, Rosti, G, Salvi, F, Pini, M, Leoni, P, Rupoli, S, Galieni, P, Bigazzi, C, Cantore, N, Palmieri, F, Albano, F, Russo Rossi, A, Rambaldi, A, Intermesoli, T, Palandri, F, Testoni, N, Luatti, S, Soverini, S, Iacobucci, I, Bochicchio, M, Apolinari, M, Fogli, M, Cervello, I, Capucci, A, Malagola, M, Malpignano, A, Girasoli, M, Angelucci, E, Usala, E, Storti, S, De Biasi, E, Tagariello, G, Sartori, R, Di Raimondo, F, Vigneri, P, Impera, S, Molica, S, Lanza, F, Viganò, C, Grasso, M, Rapezzi, D, Cavazzini, F, Bosi, A, Santini, V, Capalbo, S, Spinosa, G, Pierri, I, Bergamaschi, M, Carella, A, Bacigalupo, A, De Blasio, A, Ciccone, F, Di Renzo, N, Musolino, C, Russo, S, Cortelezzi, A, Morra, E, Pungolino, E, Luppi, M, Marasca, R, Pogliani, E, GAMBACORTI PASSERINI, C, Luciano, L, Ferrara, F, Annunziata, M, Latte, G, Noli, D, Rege Cambrin, G, Fava, C, Semenzato, G, Binotto, G, Fabbiano, F, Turri, D, Siragusa, S, Caracciolo, C, Musso, M, Porretto, F, Aversa, F, Crugnola, M, Cazzola, M, Orlandi, E, Falini, B, Falzetti, F, Visani, G, Isidori, A, Fioritoni, G, Di Lorenzo, R, Vallisa, D, Trabacchi, E, Petrini, M, Galimberti, S, Pizzuti, M, Zaccaria, A, Salvucci, M, Ronco, F, Ielo, D, Merli, F, Avanzini, P, Tosi, P, Merli, A, Musto, P, De Stefano, V, Sica, S, Latagliata, R, De Fabritiis, P, Trawiska, M, Majolino, I, Pacilli, L, Ronci, B, Cedrone, M, Petti, M, Pisani, F, Tafuri, A, Montefusco, E, Iuliano, F, Dore, F, Pardini, S, Bocchia, M, Defina, M, Liberati, A, Luzzi, D, Boccadoro, M, Ferrero, D, Vitolo, U, Gherlinzoni, F, Calistri, E, Fanin, R, Pizzolo, G, Meneghini, V, Rodighiero, F, D'Emilio, A, GAMBACORTI PASSERINI, CARLO, D'Emilio, A., Castagnetti, F, Gugliotta, G, Baccarani, M, Breccia, M, Specchia, G, Levato, L, Abruzzese, E, Rossi, G, Iurlo, A, Martino, B, Pregno, P, Stagno, F, Cuneo, A, Bonifacio, M, Gobbi, M, Russo, D, Gozzini, A, Tiribelli, M, De Vivo, A, Alimena, G, Cavo, M, Martinelli, G, Pane, F, Saglio, G, Rosti, G, Salvi, F, Pini, M, Leoni, P, Rupoli, S, Galieni, P, Bigazzi, C, Cantore, N, Palmieri, F, Albano, F, Russo Rossi, A, Rambaldi, A, Intermesoli, T, Palandri, F, Testoni, N, Luatti, S, Soverini, S, Iacobucci, I, Bochicchio, M, Apolinari, M, Fogli, M, Cervello, I, Capucci, A, Malagola, M, Malpignano, A, Girasoli, M, Angelucci, E, Usala, E, Storti, S, De Biasi, E, Tagariello, G, Sartori, R, Di Raimondo, F, Vigneri, P, Impera, S, Molica, S, Lanza, F, Viganò, C, Grasso, M, Rapezzi, D, Cavazzini, F, Bosi, A, Santini, V, Capalbo, S, Spinosa, G, Pierri, I, Bergamaschi, M, Carella, A, Bacigalupo, A, De Blasio, A, Ciccone, F, Di Renzo, N, Musolino, C, Russo, S, Cortelezzi, A, Morra, E, Pungolino, E, Luppi, M, Marasca, R, Pogliani, E, GAMBACORTI PASSERINI, C, Luciano, L, Ferrara, F, Annunziata, M, Latte, G, Noli, D, Rege Cambrin, G, Fava, C, Semenzato, G, Binotto, G, Fabbiano, F, Turri, D, Siragusa, S, Caracciolo, C, Musso, M, Porretto, F, Aversa, F, Crugnola, M, Cazzola, M, Orlandi, E, Falini, B, Falzetti, F, Visani, G, Isidori, A, Fioritoni, G, Di Lorenzo, R, Vallisa, D, Trabacchi, E, Petrini, M, Galimberti, S, Pizzuti, M, Zaccaria, A, Salvucci, M, Ronco, F, Ielo, D, Merli, F, Avanzini, P, Tosi, P, Merli, A, Musto, P, De Stefano, V, Sica, S, Latagliata, R, De Fabritiis, P, Trawiska, M, Majolino, I, Pacilli, L, Ronci, B, Cedrone, M, Petti, M, Pisani, F, Tafuri, A, Montefusco, E, Iuliano, F, Dore, F, Pardini, S, Bocchia, M, Defina, M, Liberati, A, Luzzi, D, Boccadoro, M, Ferrero, D, Vitolo, U, Gherlinzoni, F, Calistri, E, Fanin, R, Pizzolo, G, Meneghini, V, Rodighiero, F, D'Emilio, A, GAMBACORTI PASSERINI, CARLO, and D'Emilio, A.

Abstract

Background: The incidence of chronic myeloid leukemia (CML) increases with age, but it is unclear how the characteristics of the disease vary with age. In children, where CML is very rare, it presents with more aggressive features, including huge splenomegaly, higher cell count and higher blast cell percentage. Patients and methods: To investigate if after childhood the disease maintains or loses these characteristics of aggressiveness, we analyzed 2784 adult patients, at least 18 years old, registered by GIMEMA CMLWP over a 40-year period. Results: Young adults (YAs: 18-29 years old) significantly differed from adults (30-59 years old) and elderly patients (at least 60 years old) particularly for the frequency of splenomegaly (71%, 63% and 55%, P < 0.001), and the greater spleen size (median value: 4.5, 3.0 and 1.0 cm, P < 0.001). According to the EUTOS score, that is age-independent, high-risk patients were more frequent among YAs, than among adult and elderly patients (18%, 9% and 6%, P < 0.001). In tyrosine kinase inhibitors-treated patients, the rates of complete cytogenetic and major molecular response were lower in YAs, and the probability of transformation was higher (16%, 5% and 7%, P = 0.011). Conclusions: The characteristics of CML or the host response to leukemia differ with age. The knowledge of these differences and of their causes may help to refine the treatment and to improve the outcome.

Published
2015

109. Peripheral T-cell lymphoma. A still uncurable disease?

Author

PILERI, STEFANO, PICCALUGA, PIER PAOLO, AGOSTINELLI, CLAUDIO, SABATTINI, ELENA, BACCI, FRANCESCO, RIGHI, SIMONA, ZINZANI, PIER LUIGI, Orduz R., Sandri F., Falini B., Gallamini A., Dalla Favera R., Pileri S.A., Piccaluga P.P., Agostinelli C., Sabattini E., Bacci F., Orduz R., Righi S., Sandri F., Falini B., Zinzani P.L., Gallamini A., and Dalla Favera R.

Subjects
peripheral T-cell lymphomas
Published
2004

110. Identification of outcome predictors in diffuse large B-cell lymphoma. of homogeneously treated de novo nodal tumours on tissue micro-arrays

Author

PILERI, STEFANO, SABATTINI, ELENA, PICCALUGA, PIER PAOLO, BACCI, FRANCESCO, AGOSTINELLI, CLAUDIO, ZINZANI, PIER LUIGI, Dirnhofer S., Bodega L., Orduz R., Falini B., Pileri S.A., Dirnhofer S., Sabattini E., Piccaluga P.P., Bacci F., Agostinelli C., Bodega L., Orduz R., Falini B., and Zinzani P.L.

Subjects
diffuse large B-cell lymphoma, tissue micro-array, Immunohistochemical profiling
Published
2004

113. Randomized trial of 8-week versus 12-week VNCOP-b puls G-CSF regimens as front - line treatment in elderly aggressive non-Hodgkin's lymphoma patients

Author

DE RENZO, A, Falini, B, Fattori, Pp, Gentilini, P, Gherlinzoni, F, Guardigni, L, Lauta, Vm, Mannina, D, Mazza, P, Moretti, L, Pavone, E, Storti, S, Volpe, E, Zaccaria, A, Zaja, Francesco, Zinzani, Pl, DE RENZO, A, Falini, B, Fattori, Pp, Gentilini, P, Gherlinzoni, F, Guardigni, L, Lauta, Vm, Mannina, D, Mazza, P, Moretti, L, Pavone, E, Storti, S, Volpe, E, Zaccaria, A, Zaja, Francesco, and Zinzani, Pl

Abstract

BACKGROUND: Among the third-generation chemotherapy regimens specifically adapted in the last decade for elderly aggressive non-Hodgkin's lymphoma (NHL) patients, we designed an 8-week cyclophosphamide, mitoxantrone, vincristine, etoposide, bleomycin and prednisone (VNCOP-B) plus granulocyte colony-stimulating factor (G-CSF) regimen which, in a national multicenter trial, induced good complete response (CR) and relapse-free survival rates with only moderate toxic effects. Here we report a prospective, multicenter, randomized trial comparing the efficacy and toxicity of 8- and 12-week regimens of VNCOP-B plus G-CSF. PATIENTS AND METHODS: From February 1996 to June 2001, 306 consecutive previously untreated stage II-IV aggressive NHL patients > or =60 years of age were enrolled from 12 Italian cooperative institutions. Of the 297 evaluable patients, 149 and 148 received 8- and 12-week regimens, respectively, of VNCOP-B. RESULTS: The CR rates were 63% and 56% in the 8- and 12-week groups; at a median of 32 months (range 3-62 months), relapse-free survival rates were 59% and 55%, respectively. Hematological and non-hematological toxicities were similar in both treatment groups. CONCLUSIONS: Our data show that extending induction treatment with the VNCOP-B plus G-CSF regimen from 8 to 12 weeks does not raise the CR rate or provide a more durable remission.

Published
2002

114. Induction chemotherapy strategies for primary mediastinal large B-cell lymphoma with sclerosis: a retrospective multinational study on 426 previously untreated patients

Author

Zinzani, Pl, Martelli, M, Bertini, M, Gianni, Am, Devizzi, L, Federico, M, Pangalis, G, Michels, J, Zucca, E, Cantonetti, M, Cortelazzo, S, Wotherspoon, A, Ferreri, Aj, Zaja, Francesco, Lauria, F, De Renzo, A, Liberati, Ma, Falini, B, Balzarotti, M, Calderoni, A, Zaccaria, A, Gentilini, P, Fattori, Pp, Pavone, E, Angelopoulou, Mk, Alinari, L, Brugiatelli, M, Di Renzo, N, Bonifazi, F, Pileri, Sa, Cavalli, F, International Extranodal Lymphoma Study Group, Zinzani, Pl, Martelli, M, Bertini, M, Gianni, Am, Devizzi, L, Federico, M, Pangalis, G, Michels, J, Zucca, E, Cantonetti, M, Cortelazzo, S, Wotherspoon, A, Ferreri, Aj, Zaja, Francesco, Lauria, F, De Renzo, A, Liberati, Ma, Falini, B, Balzarotti, M, Calderoni, A, Zaccaria, A, Gentilini, P, Fattori, Pp, Pavone, E, Angelopoulou, Mk, Alinari, L, Brugiatelli, M, Di Renzo, N, Bonifazi, F, Pileri, Sa, Cavalli, F, and International Extranodal Lymphoma Study, Group

Subjects
response rate, Author Keywords:PMLBCL, chemotherapy, radiotherapy, combined modality treatment KeyWords Plus:HIGH-DOSE CHEMOTHERAPY, NON-HODGKINS-LYMPHOMA, MACOP-B, COMBINATION CHEMOTHERAPY, MALIGNANT-LYMPHOMA, RADIATION-THERAPY, CLINICAL-TRIALS, TRANSPLANTATION, CLASSIFICATION, MANAGEMENT
Abstract

BACKGROUND AND OBJECTIVES: This multinational retrospective study compares the outcomes of patients with primary mediastinal large B-cell lymphoma (PMLBCL) with sclerosis after first-generation (dose-intensive regimens), third-generation (alternating regimens) and high-dose chemotherapy strategies, frequently with adjuvant radiation therapy. DESIGN AND METHODS: Between August 1981 and December 1999, a total of 426 previously untreated patients with confirmed diagnosis were enrolled in 20 institutions to receive combination chemotherapy with either first generation (CHOP or CHOP-like) regimens, third generation (MACOP-B, VACOP-B, ProMACE CytaBOM) regimens or high-dose chemotherapy (HDS/ABMT). RESULTS: With chemotherapy, complete response (CR) rates were 49% (50/105), 51% (142/277) and 53% (23/44) with first generation, third generation and high-dose chemotherapy strategies, respectively; partial response (PR) rates were 32%, 36% and 35%, respectively. All patients who achieved CR and 124/142 (84%) with PR had radiation therapy on the mediastinum. The final CR rates became 61% for CHOP/CHOP-like regimens, 79% for MACOP-B and other regimens, and 75% for HDS/ABMT. After median follow-ups from attaining CR of 48.5 months for CHOP/CHOP-like regimens, 51.7 months for MACOP-B type regimens and 32.4 months for HDS/ABMT, relapses occurred in 15/64 (23%), 27/218 (12%) and 0/33 (0%) patients, respectively. Projected 10-year progression-free survival rates were 35%, 67% and 78%, respectively (p=0.0000). Projected 10-year overall survival rates were 44%, 71% and 77%, respectively (p=0.0000), after median follow-ups from diagnosis of 52.3 months, 54.9 months and 35.8 months, respectively. INTERPRETATION AND CONCLUSIONS: In patients with PMLBCL with sclerosis, MACOP-B plus radiation therapy may be a better strategy than other treatments; these retrospective data need to be confirmed by prospective studies. The encouraging survival results after high dose chemotherapy require confirmation in selected high-risk patients.

Published
2002

115. Prognostic value of the end of induction PET in patients with follicular lymphoma: results from the analysis of FOLL 12 trial.

Author

Guerra, L., Bergesio, F., Fallanca, F., Chauvie, S., Marcheselli, L., Durmo, R., Peano, S., Franceschetto, A., Pinto, A., Tani, M., Merli, M., Boccomini, C., Musuraca, G., Pulsoni, A., Falini, B., Ghiggi, C., Farina, L., Ballerini, F., Stefani, P., and Bolis, S. A. M.

Subjects
FOLLICULAR lymphoma, PROGNOSIS, POSITRON emission tomography
Abstract

B Aim: b To assess the prognostic value of the PET metabolic response using the Deauville Score at the end of induction (EoI) therapy. In the whole population, the 5 yrs PFS (95% CI) in DS1-2, DS 3 ad DS4-5 was 74% (69-78), 55% (44-65; HR1.90 (1.36-2.66) I p i < 0.001) and 37%(26-48; HR 4.01 (2.90-5.54) I p i < 0.001); DS3 patients had an intermediate 5 yrs PFS rates between those of DS1-2 and DS4-5 patients. B Conclusion: b In FOLL12 trial, EoI-PET according DS criteria was a reliable tool to stratify PFS and OS in advanced follicular lymphoma patients treated with immunochemotherapy; in addition, these data showed DS3 patients as a new category with an intermediate prognosis in terms of PFS. [Extracted from the article]

Published
2023
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118. Chronic eosinophilic leukaemia with ETV6-NTRK3 fusion transcript in an elderly patient affected with pancreatic carcinoma

Author

Forghieri, Fabio, Morselli, M, Potenza, Leonardo, Maccaferri, Monica, Pedrazzi, Letizia, Paolini, Ambra, Bonacorsi, G, Artusi, Tullio, Giacobbi, F, Corradini, G, Barozzi, Patrizia, Zucchini, Patrizia, Marasca, Roberto, Narni, Franco, Crescenzi, B, Mecucci, C, Falini, B, Torelli, Giuseppe, and Luppi, Mario

Subjects
Chronic eosinophilic leukaemia, ETV6-NTRK3 fusion transcript
Published
2011

120. Anaplastic lymphoma kinase in human cancer

Author

Barreca, A., Lasorsa, E., Riera, L., Machiorlatti, R., Piva, R., Ponzoni, M., Kwee, I., Bertoni, F., Piccaluga, P.P., Pileri, S.A., Inghirami, G.C.B.A., Chiarle, R., Cuccuru, G., Inghirami, G., Martinoglio, B., Medico, E., Pellegrino, E., Ruberto, M.L., Voena, C., Fornari, A., Novero, D., Chilosi, M., Zamó, A., Facchetti, F., Lonardi, S., De Chiara, A., Fulciniti, F., Doglioni, C., Agnelli, L., Neri, A., Todoerti, K., Pileri, S., Falini, B., Tiacci, E., Van Loo, P., Tousseyn, T., De Wolf-Peeters, C., Geissinger, E., Muller-Hermelink, H.K., Rosenwald, A., Piris, M.A., Maria, E.R., Barreca A, Lasorsa E, Riera L, Machiorlatti R, Piva R, Ponzoni M, Kwee I, Bertoni F, Piccaluga PP, Pileri SA, Inghirami G, and the European T-Cell Lymphoma Study Group, Barreca, A, Lasorsa, E, Riera, L, Machiorlatti, R, Piva, R, Ponzoni, Maurilio, Kwee, I, Bertoni, F, Piccaluga, Pp, Pileri, Sa, and Inghirami, G.

Subjects
Transcriptional Activation, Lymphoma, kinase, Settore MED/06 - Oncologia Medica, Pyridines, Receptor Protein-Tyrosine Kinases, Antineoplastic Agents, Receptor tyrosine kinase, Translocation, Genetic, CSK Tyrosine-Protein Kinase, Proto-Oncogene Proteins p21(ras), Phosphatidylinositol 3-Kinases, Endocrinology, Crizotinib, Piperidines, Neoplasms, Proto-Oncogene Proteins, hemic and lymphatic diseases, medicine, cancer, Anaplastic lymphoma kinase, Humans, Anaplastic Lymphoma Kinase, anaplastic lymphoma, Molecular Biology, Anaplastic large-cell lymphoma, Nucleophosmin, biology, Phospholipase C gamma, ALK, Intracellular Signaling Peptides and Proteins, Protein-Tyrosine Kinases, medicine.disease, BCL10, Up-Regulation, src-Family Kinases, Mutation, Cancer research, biology.protein, Pyrazoles, Signal transduction, medicine.drug, Signal Transduction
Abstract

The receptor tyrosine kinases (RTKs) play a critical role, controlling cell proliferation, survival, and differentiation of normal cells. Their pivotal function has been firmly established in the pathogenesis of many cancers as well. The anaplastic lymphoma kinase (ALK), a transmembrane RTK, originally identified in the nucleophosmin (NPM)–ALK chimera of anaplastic large cell lymphoma, has emerged as a novel tumorigenic player in several human cancers. In this review, we describe the expression of the ALK–RTK, its related fusion proteins, and their molecular mechanisms of activation. Novel tailored strategies are briefly illustrated for the treatment of ALK-positive neoplasms.

Published
2011

125. EML4-ALK rearrangement in non-small-cell lung cancer and non-tumor lung tissues

Author

Martelli, Maria Paola, Sozzi, G, Hernandez, L, Pettirossi, V, Navarro, A, Conte, D, Gasparini, P, Perrone, F, Modena, P, Pastorino, U, Carbone, A, Fabbri, A, Sidoni, A, Nakamura, S, Gambacorta, M, Fernández, Pl, Ramirez, J, Chan, Jkc, Grigioni, Wf, Campo, E, Pileri, Sa, and Falini, B.

Published
2009

140. Il Gruppo Italiano di Emolinfopatologia (G.I.E.): una esigenza per le nuove e complesse problematiche tecnico-organizzative della moderna diagnostica emolinfopatologica

Author

Paulli, M, Artusi, T, Baroni, Cd, Carbone, A, Coggi, G, DI LOLLO, S, Facchetti, F, Falini, B, Franco, V, Gambacorta, M, LA ROCCA VM, Leoncini, L, Magrini, U, Maiorana, Antonino, Menestrina, F, Novero, D, Palestro, G, Pescarmona, E, Cantucci, M, STRACCA PANSA, V, Truini, M, and Pileri, S.

Subjects
Emolinfopatologia, diagnostica
Published
2006

141. Denaturing high-performance liquid chromatography: a valid approach for identifying NPM1 mutations in Acute Myeloid Leukemia

Author

Roti, Giovanni, Rosati, R, Bonasso, R, Gorello, P, Diverio, D, Martelli, Mf, Falini, B, Mecucci, Cristina, and Gruppo Italiano Malattie Ematologiche dell' Adulto Working Party

Subjects
Cytoplasm, Leukemia, Myeloid, Acute, Base Sequence, hemic and lymphatic diseases, Molecular Sequence Data, Mutation, Humans, Nuclear Proteins, Amino Acid Sequence, Nucleophosmin, Chromatography, High Pressure Liquid, Regular Articles
Abstract

NPM1 gene mutations are the most frequent genetic lesion in the 60% of adult acute myeloid leukemias (AMLs) with normal karyotype and no evidence of typical fusion genes (BCR/ABL1, PML/RARA, AML1/ETO, CBFB/MYH11, DEK/CAN). Using direct sequencing we previously identified six different heterozygous mutants within exon 12 encoding the nucleophosmin C-terminus. Because of these mutations the shuttling protein nucleophosmin is aberrantly delocalized in the cytoplasm of leukemic cells (NPMc+). Here, we designed and tested a denaturing high-performance liquid chromatography (DHPLC) assay to detect NPM1 mutated variants. To assess specificity, sensitivity, reliability, and reproducibility, we analyzed DNA from 120 primary adult AMLs and compared DHPLC results with immunohistochemistry and sequencing. All electropherogram profiles in the 26 NPMc+ leukemias were different from the wild type, indicating 100% sensitivity. Sequencing categorized mutations A, B, and D, and all mutation A cases gave identical elution profiles. The other mutations showed typical chromatograms, with mutations B and D differing for one nucleotide. Elution profiles and sequencing also identified four new variants. Our results suggest that DHPLC detects NPM1mutations as well as direct sequencing and immunohistochemistry, providing a helpful approach in the diagnosis of NPMc+ AML.

Published
2006

144. Immunohistochemistry predicts nucleophosmin (NPM) mutations in acutemyeloid leukemia

Author

Falini, B, Martelli, Mp, Bolli, N, Bonasso, R, Ghia, E, Pallotta, Mt, Diverio, D, Nicoletti, I, Pacini, R, Tabarrini, A, Galletti, Bv, Mannucci, R, Roti, G, Rosati, R, Specchia, G, Liso, A, Tiacci, E, Alcalay, M, Luzi, L, Volorio, S, Bernard, L, Guarini, A, Amadori, S, Mandelli, F, Pane, F, Lo Coco, F, Saglio, Giuseppe, Pelicci, Pg, Martelli, Mf, and Mecucci, C.

Published
2006

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