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Start Over Author "Parente, Roberta" Publisher verona univ hosp, allergy unit, verona, italy.
11 results on '"Parente, Roberta"'

1. Prognostic Impact of Organomegaly in Mastocytosis : An Analysis of the European Competence Network on Mastocytosis

Author

Lübke, Johannes, Schwaab, Juliana, Christen, Deborah, Elberink, Hanneke Oude, Span, Bart, Niedoszytko, Marek, Gorska, Aleksandra, Lange, Magdalena, Gleixner, Karoline V., Hadzijusufovic, Emir, Solomianyi, Oleksii, Angelova-Fischer, Irena, Zanotti, Roberta, Bonifacio, Massimiliano, Bonadonna, Patrizia, Shoumariyeh, Khalid, von Bubnoff, Nikolas, Mueller, Sabine, Perkins, Cecelia, Elena, Chiara, Malcovati, Luca, Hägglund, Hans, Mattsson, Mattias, Parente, Roberta, Varkonyi, Judit, Fortina, Anna Belloni, Caroppo, Francesca, Zink, Alexander, Brockow, Knut, Breynaert, Christine, Bullens, Dominique, Yavuz, Akif Selim, Doubek, Michael, Sabato, Vito, Schug, Tanja, Niederwieser, Dietger, Hartmann, Karin, Triggiani, Massimo, Gotlib, Jason, Hermine, Olivier, Arock, Michel, Kluin-Nelemans, Hanneke C., Panse, Jens, Sperr, Wolfgang R., Valent, Peter, Reiter, Andreas, Jawhar, Mohamad, Lübke, Johannes, Schwaab, Juliana, Christen, Deborah, Elberink, Hanneke Oude, Span, Bart, Niedoszytko, Marek, Gorska, Aleksandra, Lange, Magdalena, Gleixner, Karoline V., Hadzijusufovic, Emir, Solomianyi, Oleksii, Angelova-Fischer, Irena, Zanotti, Roberta, Bonifacio, Massimiliano, Bonadonna, Patrizia, Shoumariyeh, Khalid, von Bubnoff, Nikolas, Mueller, Sabine, Perkins, Cecelia, Elena, Chiara, Malcovati, Luca, Hägglund, Hans, Mattsson, Mattias, Parente, Roberta, Varkonyi, Judit, Fortina, Anna Belloni, Caroppo, Francesca, Zink, Alexander, Brockow, Knut, Breynaert, Christine, Bullens, Dominique, Yavuz, Akif Selim, Doubek, Michael, Sabato, Vito, Schug, Tanja, Niederwieser, Dietger, Hartmann, Karin, Triggiani, Massimo, Gotlib, Jason, Hermine, Olivier, Arock, Michel, Kluin-Nelemans, Hanneke C., Panse, Jens, Sperr, Wolfgang R., Valent, Peter, Reiter, Andreas, and Jawhar, Mohamad

Abstract

BACKGROUND: Organomegaly, including splenomegaly, hepatomegaly, and/or lymphadenopathy, are important diagnostic and prognostic features in patients with cutaneous mastocytosis (CM) or systemic mastocytosis (SM). OBJECTIVES: To investigate the prevalence and prognostic impact of 1 or more organomegalies on clinical course and survival in patients with CM/SM. METHODS: Therefore, 3155 patients with CM (n = 1002 [32%]) or SM (n = 2153 [68%]) enrolled within the registry of the European Competence Network on Mastocytosis were analyzed. RESULTS: Overall survival (OS) was adversely affected by the number of organomegalies (OS: #0 vs #1 hazard ratio [HR], 4.9; 95% CI, 3.4-7.1, P < .001; #1 vs #2 HR, 2.1, 95% CI, 1.4-3.1, P < .001; #2 vs #3 HR, 1.7, 95% CI, 1.2-2.5, P = .004). Lymphadenopathy was frequently detected in patients with smoldering SM (SSM, 18 of 60 [30%]) or advanced SM (AdvSM, 137 of 344 [40%]). Its presence confered an inferior outcome in patients with AdvSM compared with patients with AdvSM without lymphadenopathy (median OS, 3.8 vs 2.6 years; HR, 1.6; 95% CI, 1.2-2.2; P = .003). OS was not different between patients having organomegaly with either ISM or SSM (median, 25.5 years vs not reached; P = .435). At time of disease progression, a new occurrence of any organomegaly was observed in 17 of 40 (43%) patients with ISM, 4 of 10 (40%) patients with SSM, and 33 of 86 (38%) patients with AdvSM, respectively. CONCLUSIONS: Organomegalies including lymphadenopathy are often found in SSM and AdvSM. ISM with organomegaly has a similar course and prognosis compared with SSM. The number of organomegalies is adversely associated with OS. A new occurrence of organomegaly in all variants of SM may indicate disease progression.

Published
2023
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2. Refined diagnostic criteria for bone marrow mastocytosis : a proposal of the European competence network on mastocytosis

Author

Zanotti, Roberta, Bonifacio, Massimiliano, Lucchini, Giuseppe, Sperr, Wolfgang R., Scaffidi, Luigi, van Anrooij, Bjoern, Elberink, Hanneke N. C. Oude, Rossignol, Julien, Hermine, Olivier, Gorska, Aleksandra, Lange, Magdalena, Hadzijusufovic, Emir, Miething, Cornelius, Muller, Sabine, Perkins, Cecelia, Shomali, William, Elena, Chiara, Illerhaus, Anja, Jawhar, Mohamad, Parente, Roberta, Caroppo, Francesca, Solomianyi, Oleksii, Zink, Alexander, Mattsson, Mattias, Yavuz, Akif Selim, Panse, Jens, Varkonyi, Judit, Doubek, Michael, Sabato, Vito, Breynaert, Christine, Vucinic, Vladan, Schug, Tanja, Hagglund, Hans, Wortmann, Friederike, Brockow, Knut, Angelova-Fischer, Irena, Fortina, Anna Belloni, Triggiani, Massimo, Reiter, Andreas, Hartmann, Karin, Malcovati, Luca, Gotlib, Jason, Shoumariyeh, Khalid, Niedoszytko, Marek, Arock, Michel, Kluin-Nelemans, Hanneke C., Bonadonna, Patrizia, Valent, Peter, Zanotti, Roberta, Bonifacio, Massimiliano, Lucchini, Giuseppe, Sperr, Wolfgang R., Scaffidi, Luigi, van Anrooij, Bjoern, Elberink, Hanneke N. C. Oude, Rossignol, Julien, Hermine, Olivier, Gorska, Aleksandra, Lange, Magdalena, Hadzijusufovic, Emir, Miething, Cornelius, Muller, Sabine, Perkins, Cecelia, Shomali, William, Elena, Chiara, Illerhaus, Anja, Jawhar, Mohamad, Parente, Roberta, Caroppo, Francesca, Solomianyi, Oleksii, Zink, Alexander, Mattsson, Mattias, Yavuz, Akif Selim, Panse, Jens, Varkonyi, Judit, Doubek, Michael, Sabato, Vito, Breynaert, Christine, Vucinic, Vladan, Schug, Tanja, Hagglund, Hans, Wortmann, Friederike, Brockow, Knut, Angelova-Fischer, Irena, Fortina, Anna Belloni, Triggiani, Massimo, Reiter, Andreas, Hartmann, Karin, Malcovati, Luca, Gotlib, Jason, Shoumariyeh, Khalid, Niedoszytko, Marek, Arock, Michel, Kluin-Nelemans, Hanneke C., Bonadonna, Patrizia, and Valent, Peter

Abstract

In the current classification of the World Health Organization (WHO), bone marrow mastocytosis (BMM) is a provisional variant of indolent systemic mastocytosis (ISM) defined by bone marrow involvement and absence of skin lesions. However, no additional diagnostic criteria for BMM have been proposed. Within the registry dataset of the European Competence Network on Mastocytosis, we compared characteristics and outcomes of 390 patients with BMM and 1175 patients with typical ISM. BMM patients were significantly older, predominantly male, had lower tryptase and lower burden of neoplastic mast cells, and displayed a higher frequency of allergic reactions, mainly triggered by Hymenoptera, than patients with typical ISM. The estimated 10-year progression-free survival of BMM and typical ISM was 95.9% and 92.6%, respectively. In BMM patients defined by WHO-based criteria, the presence of one B-Finding and tryptase level >= 125 ng/mL were identified as risk factors for progression in multivariate analyses. BMM patients without any of these risk factors were found to have better progression-free survival (p < 0.05) and better overall survival (p < 0.05) than other ISM patients. These data support the proposal to define BMM as a separate SM variant characterized by SM criteria, absence of skin lesions, absence of B-Findings, and tryptase levels <125 ng/mL.

Published
2022
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3. Cytogenetic and molecular aberrations and worse outcome for male patients in systemic mastocytosis

Author

Kluin-Nelemans, Hanneke C., Jawhar, Mohamad, Reiter, Andreas, van Anrooij, Bjorn, Gotlib, Jason, Hartmann, Karin, Illerhaus, Anja, Elberink, Hanneke N. G. Oude, Gorska, Aleksandra, Niedoszytko, Marek, Lange, Magdalena, Scaffidi, Luigi, Zanotti, Roberta, Bonadonna, Patrizia, Perkins, Cecelia, Elena, Chiara, Malcovati, Luca, Shoumariyeh, Khalid, von Bubnoff, Nikolas, Mueller, Sabine, Triggiani, Massimo, Parente, Roberta, Schwaab, Juliana, Kundi, Michael, Fortina, Anna Belloni, Caroppo, Francesca, Brockow, Knut, Zink, Alexander, Fuchs, David, Angelova-Fischer, Irena, Yavuz, Akif Selim, Doubek, Michael, Mattsson, Mattias, Hägglund, Hans, Panse, Jens, Simonowski, Anne, Sabato, Vito, Schug, Tanja, Jentzsch, Madlen, Breynaert, Christine, Varkonyi, Judit, Kennedy, Vanessa, Hermine, Olivier, Rossignol, Julien, Arock, Michel, Valent, Peter, Sperr, Wolfgang R., Kluin-Nelemans, Hanneke C., Jawhar, Mohamad, Reiter, Andreas, van Anrooij, Bjorn, Gotlib, Jason, Hartmann, Karin, Illerhaus, Anja, Elberink, Hanneke N. G. Oude, Gorska, Aleksandra, Niedoszytko, Marek, Lange, Magdalena, Scaffidi, Luigi, Zanotti, Roberta, Bonadonna, Patrizia, Perkins, Cecelia, Elena, Chiara, Malcovati, Luca, Shoumariyeh, Khalid, von Bubnoff, Nikolas, Mueller, Sabine, Triggiani, Massimo, Parente, Roberta, Schwaab, Juliana, Kundi, Michael, Fortina, Anna Belloni, Caroppo, Francesca, Brockow, Knut, Zink, Alexander, Fuchs, David, Angelova-Fischer, Irena, Yavuz, Akif Selim, Doubek, Michael, Mattsson, Mattias, Hägglund, Hans, Panse, Jens, Simonowski, Anne, Sabato, Vito, Schug, Tanja, Jentzsch, Madlen, Breynaert, Christine, Varkonyi, Judit, Kennedy, Vanessa, Hermine, Olivier, Rossignol, Julien, Arock, Michel, Valent, Peter, and Sperr, Wolfgang R.

Abstract

In systemic mastocytosis (SM), the clinical features and survival vary greatly. Patient-related factors determining the outcome in SM are largely unknown. Methods: We examined the impact of sex on the clinical features, progression-free survival (PFS), and overall survival (OS) in 3403 patients with mastocytosis collected in the registry of the European Competence Network on Mastocytosis (ECNM). The impact of cytogenetic and molecular genetic aberrations on sex differences was analyzed in a subset of patients. Results: Of all patients enrolled, 55.3% were females. However, a male predominance was found in a subset of advanced SM (AdvSM) patients, namely SM with an associated hematologic neoplasm (SM-AHN, 70%; p < 0.001). Correspondingly, organomegaly (male: 23% vs. female: 13%, p = 0.007) was more, whereas skin involvement (male: 71% vs. female: 86%, p = 0.001) was less frequent in males. In all patients together, OS (p < 0.0001) was significantly inferior in males, and also within the WHO sub-categories indolent SM, aggressive SM (ASM) and SM-AHN. PFS was significantly (p = 0.0002) worse in males when all patients were grouped together; due to low numbers of events, this significance persisted only in the subcategory smoldering SM. Finally, prognostically relevant cytogenetic abnormalities (10% vs. 5%, p = 0.006) or molecular aberrations (SRSF2/ASXLI/RUNXI profile; 63% vs. 40%, p = 0.003) were more frequently present in males. Conclusions: Male sex has a major impact on clinical features, disease progression, and survival in mastocytosis. Male patients have an inferior survival, which seems related to the fact that they more frequently develop a multi-mutated AdvSM associated with a high-risk molecular background.

Published
2021
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4. Cytogenetic and molecular aberrations and worse outcome for male patients in systemic mastocytosis

Author

Kluin-Nelemans, Hanneke C., Jawhar, Mohamad, Reiter, Andreas, van Anrooij, Bjorn, Gotlib, Jason, Hartmann, Karin, Illerhaus, Anja, Elberink, Hanneke N. G. Oude, Gorska, Aleksandra, Niedoszytko, Marek, Lange, Magdalena, Scaffidi, Luigi, Zanotti, Roberta, Bonadonna, Patrizia, Perkins, Cecelia, Elena, Chiara, Malcovati, Luca, Shoumariyeh, Khalid, von Bubnoff, Nikolas, Mueller, Sabine, Triggiani, Massimo, Parente, Roberta, Schwaab, Juliana, Kundi, Michael, Fortina, Anna Belloni, Caroppo, Francesca, Brockow, Knut, Zink, Alexander, Fuchs, David, Angelova-Fischer, Irena, Yavuz, Akif Selim, Doubek, Michael, Mattsson, Mattias, Hägglund, Hans, Panse, Jens, Simonowski, Anne, Sabato, Vito, Schug, Tanja, Jentzsch, Madlen, Breynaert, Christine, Varkonyi, Judit, Kennedy, Vanessa, Hermine, Olivier, Rossignol, Julien, Arock, Michel, Valent, Peter, Sperr, Wolfgang R., Kluin-Nelemans, Hanneke C., Jawhar, Mohamad, Reiter, Andreas, van Anrooij, Bjorn, Gotlib, Jason, Hartmann, Karin, Illerhaus, Anja, Elberink, Hanneke N. G. Oude, Gorska, Aleksandra, Niedoszytko, Marek, Lange, Magdalena, Scaffidi, Luigi, Zanotti, Roberta, Bonadonna, Patrizia, Perkins, Cecelia, Elena, Chiara, Malcovati, Luca, Shoumariyeh, Khalid, von Bubnoff, Nikolas, Mueller, Sabine, Triggiani, Massimo, Parente, Roberta, Schwaab, Juliana, Kundi, Michael, Fortina, Anna Belloni, Caroppo, Francesca, Brockow, Knut, Zink, Alexander, Fuchs, David, Angelova-Fischer, Irena, Yavuz, Akif Selim, Doubek, Michael, Mattsson, Mattias, Hägglund, Hans, Panse, Jens, Simonowski, Anne, Sabato, Vito, Schug, Tanja, Jentzsch, Madlen, Breynaert, Christine, Varkonyi, Judit, Kennedy, Vanessa, Hermine, Olivier, Rossignol, Julien, Arock, Michel, Valent, Peter, and Sperr, Wolfgang R.

Abstract

In systemic mastocytosis (SM), the clinical features and survival vary greatly. Patient-related factors determining the outcome in SM are largely unknown. Methods: We examined the impact of sex on the clinical features, progression-free survival (PFS), and overall survival (OS) in 3403 patients with mastocytosis collected in the registry of the European Competence Network on Mastocytosis (ECNM). The impact of cytogenetic and molecular genetic aberrations on sex differences was analyzed in a subset of patients. Results: Of all patients enrolled, 55.3% were females. However, a male predominance was found in a subset of advanced SM (AdvSM) patients, namely SM with an associated hematologic neoplasm (SM-AHN, 70%; p < 0.001). Correspondingly, organomegaly (male: 23% vs. female: 13%, p = 0.007) was more, whereas skin involvement (male: 71% vs. female: 86%, p = 0.001) was less frequent in males. In all patients together, OS (p < 0.0001) was significantly inferior in males, and also within the WHO sub-categories indolent SM, aggressive SM (ASM) and SM-AHN. PFS was significantly (p = 0.0002) worse in males when all patients were grouped together; due to low numbers of events, this significance persisted only in the subcategory smoldering SM. Finally, prognostically relevant cytogenetic abnormalities (10% vs. 5%, p = 0.006) or molecular aberrations (SRSF2/ASXLI/RUNXI profile; 63% vs. 40%, p = 0.003) were more frequently present in males. Conclusions: Male sex has a major impact on clinical features, disease progression, and survival in mastocytosis. Male patients have an inferior survival, which seems related to the fact that they more frequently develop a multi-mutated AdvSM associated with a high-risk molecular background.

Published
2021
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5. Cytogenetic and molecular aberrations and worse outcome for male patients in systemic mastocytosis

Author

Kluin-Nelemans, Hanneke C., Jawhar, Mohamad, Reiter, Andreas, van Anrooij, Bjorn, Gotlib, Jason, Hartmann, Karin, Illerhaus, Anja, Elberink, Hanneke N. G. Oude, Gorska, Aleksandra, Niedoszytko, Marek, Lange, Magdalena, Scaffidi, Luigi, Zanotti, Roberta, Bonadonna, Patrizia, Perkins, Cecelia, Elena, Chiara, Malcovati, Luca, Shoumariyeh, Khalid, von Bubnoff, Nikolas, Mueller, Sabine, Triggiani, Massimo, Parente, Roberta, Schwaab, Juliana, Kundi, Michael, Fortina, Anna Belloni, Caroppo, Francesca, Brockow, Knut, Zink, Alexander, Fuchs, David, Angelova-Fischer, Irena, Yavuz, Akif Selim, Doubek, Michael, Mattsson, Mattias, Hägglund, Hans, Panse, Jens, Simonowski, Anne, Sabato, Vito, Schug, Tanja, Jentzsch, Madlen, Breynaert, Christine, Varkonyi, Judit, Kennedy, Vanessa, Hermine, Olivier, Rossignol, Julien, Arock, Michel, Valent, Peter, Sperr, Wolfgang R., Kluin-Nelemans, Hanneke C., Jawhar, Mohamad, Reiter, Andreas, van Anrooij, Bjorn, Gotlib, Jason, Hartmann, Karin, Illerhaus, Anja, Elberink, Hanneke N. G. Oude, Gorska, Aleksandra, Niedoszytko, Marek, Lange, Magdalena, Scaffidi, Luigi, Zanotti, Roberta, Bonadonna, Patrizia, Perkins, Cecelia, Elena, Chiara, Malcovati, Luca, Shoumariyeh, Khalid, von Bubnoff, Nikolas, Mueller, Sabine, Triggiani, Massimo, Parente, Roberta, Schwaab, Juliana, Kundi, Michael, Fortina, Anna Belloni, Caroppo, Francesca, Brockow, Knut, Zink, Alexander, Fuchs, David, Angelova-Fischer, Irena, Yavuz, Akif Selim, Doubek, Michael, Mattsson, Mattias, Hägglund, Hans, Panse, Jens, Simonowski, Anne, Sabato, Vito, Schug, Tanja, Jentzsch, Madlen, Breynaert, Christine, Varkonyi, Judit, Kennedy, Vanessa, Hermine, Olivier, Rossignol, Julien, Arock, Michel, Valent, Peter, and Sperr, Wolfgang R.

Abstract

In systemic mastocytosis (SM), the clinical features and survival vary greatly. Patient-related factors determining the outcome in SM are largely unknown. Methods: We examined the impact of sex on the clinical features, progression-free survival (PFS), and overall survival (OS) in 3403 patients with mastocytosis collected in the registry of the European Competence Network on Mastocytosis (ECNM). The impact of cytogenetic and molecular genetic aberrations on sex differences was analyzed in a subset of patients. Results: Of all patients enrolled, 55.3% were females. However, a male predominance was found in a subset of advanced SM (AdvSM) patients, namely SM with an associated hematologic neoplasm (SM-AHN, 70%; p < 0.001). Correspondingly, organomegaly (male: 23% vs. female: 13%, p = 0.007) was more, whereas skin involvement (male: 71% vs. female: 86%, p = 0.001) was less frequent in males. In all patients together, OS (p < 0.0001) was significantly inferior in males, and also within the WHO sub-categories indolent SM, aggressive SM (ASM) and SM-AHN. PFS was significantly (p = 0.0002) worse in males when all patients were grouped together; due to low numbers of events, this significance persisted only in the subcategory smoldering SM. Finally, prognostically relevant cytogenetic abnormalities (10% vs. 5%, p = 0.006) or molecular aberrations (SRSF2/ASXLI/RUNXI profile; 63% vs. 40%, p = 0.003) were more frequently present in males. Conclusions: Male sex has a major impact on clinical features, disease progression, and survival in mastocytosis. Male patients have an inferior survival, which seems related to the fact that they more frequently develop a multi-mutated AdvSM associated with a high-risk molecular background.

Published
2021
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6. Cytogenetic and molecular aberrations and worse outcome for male patients in systemic mastocytosis

Author

Kluin-Nelemans, Hanneke C., Jawhar, Mohamad, Reiter, Andreas, van Anrooij, Bjorn, Gotlib, Jason, Hartmann, Karin, Illerhaus, Anja, Elberink, Hanneke N. G. Oude, Gorska, Aleksandra, Niedoszytko, Marek, Lange, Magdalena, Scaffidi, Luigi, Zanotti, Roberta, Bonadonna, Patrizia, Perkins, Cecelia, Elena, Chiara, Malcovati, Luca, Shoumariyeh, Khalid, von Bubnoff, Nikolas, Mueller, Sabine, Triggiani, Massimo, Parente, Roberta, Schwaab, Juliana, Kundi, Michael, Fortina, Anna Belloni, Caroppo, Francesca, Brockow, Knut, Zink, Alexander, Fuchs, David, Angelova-Fischer, Irena, Yavuz, Akif Selim, Doubek, Michael, Mattsson, Mattias, Hägglund, Hans, Panse, Jens, Simonowski, Anne, Sabato, Vito, Schug, Tanja, Jentzsch, Madlen, Breynaert, Christine, Varkonyi, Judit, Kennedy, Vanessa, Hermine, Olivier, Rossignol, Julien, Arock, Michel, Valent, Peter, Sperr, Wolfgang R., Kluin-Nelemans, Hanneke C., Jawhar, Mohamad, Reiter, Andreas, van Anrooij, Bjorn, Gotlib, Jason, Hartmann, Karin, Illerhaus, Anja, Elberink, Hanneke N. G. Oude, Gorska, Aleksandra, Niedoszytko, Marek, Lange, Magdalena, Scaffidi, Luigi, Zanotti, Roberta, Bonadonna, Patrizia, Perkins, Cecelia, Elena, Chiara, Malcovati, Luca, Shoumariyeh, Khalid, von Bubnoff, Nikolas, Mueller, Sabine, Triggiani, Massimo, Parente, Roberta, Schwaab, Juliana, Kundi, Michael, Fortina, Anna Belloni, Caroppo, Francesca, Brockow, Knut, Zink, Alexander, Fuchs, David, Angelova-Fischer, Irena, Yavuz, Akif Selim, Doubek, Michael, Mattsson, Mattias, Hägglund, Hans, Panse, Jens, Simonowski, Anne, Sabato, Vito, Schug, Tanja, Jentzsch, Madlen, Breynaert, Christine, Varkonyi, Judit, Kennedy, Vanessa, Hermine, Olivier, Rossignol, Julien, Arock, Michel, Valent, Peter, and Sperr, Wolfgang R.

Abstract

In systemic mastocytosis (SM), the clinical features and survival vary greatly. Patient-related factors determining the outcome in SM are largely unknown. Methods: We examined the impact of sex on the clinical features, progression-free survival (PFS), and overall survival (OS) in 3403 patients with mastocytosis collected in the registry of the European Competence Network on Mastocytosis (ECNM). The impact of cytogenetic and molecular genetic aberrations on sex differences was analyzed in a subset of patients. Results: Of all patients enrolled, 55.3% were females. However, a male predominance was found in a subset of advanced SM (AdvSM) patients, namely SM with an associated hematologic neoplasm (SM-AHN, 70%; p < 0.001). Correspondingly, organomegaly (male: 23% vs. female: 13%, p = 0.007) was more, whereas skin involvement (male: 71% vs. female: 86%, p = 0.001) was less frequent in males. In all patients together, OS (p < 0.0001) was significantly inferior in males, and also within the WHO sub-categories indolent SM, aggressive SM (ASM) and SM-AHN. PFS was significantly (p = 0.0002) worse in males when all patients were grouped together; due to low numbers of events, this significance persisted only in the subcategory smoldering SM. Finally, prognostically relevant cytogenetic abnormalities (10% vs. 5%, p = 0.006) or molecular aberrations (SRSF2/ASXLI/RUNXI profile; 63% vs. 40%, p = 0.003) were more frequently present in males. Conclusions: Male sex has a major impact on clinical features, disease progression, and survival in mastocytosis. Male patients have an inferior survival, which seems related to the fact that they more frequently develop a multi-mutated AdvSM associated with a high-risk molecular background.

Published
2021
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7. Scoring the Risk of Having Systemic Mastocytosis in Adult Patients with Mastocytosis in the Skin

Author

Fuchs, David, Kilbertus, Alex, Kofler, Karin, von Bubnoff, Nikolas, Shoumariyeh, Khalid, Zanotti, Roberta, Bonadonna, Patrizia, Scaffidi, Luigi, Doubek, Michael, Elberink, Hanneke Oude, Span, Lambert F. R., Hermine, Olivier, Elena, Chiara, Benvenuti, Pietro, Yavuz, Akif Selim, Brockow, Knut, Zink, Alexander, Aberer, Elisabeth, Gorska, Aleksandra, Romantowski, Jan, Hadzijusufovic, Emir, Fortina, Anna Belloni, Caroppo, Francesca, Perkins, Cecelia, Illerhaus, Anja, Panse, Jens, Vucinic, Vladan, Jawhar, Mohamad, Sabato, Vito, Triggiani, Massimo, Parente, Roberta, Bergström, Anna, Breynaert, Christine, Gotlib, Jason, Reiter, Andreas, Hartmann, Karin, Niedoszytko, Marek, Arock, Michel, Kluin-Nelemans, Hanneke C., Sperr, Wolfgang R., Greul, Rosemarie, Valent, Peter, Fuchs, David, Kilbertus, Alex, Kofler, Karin, von Bubnoff, Nikolas, Shoumariyeh, Khalid, Zanotti, Roberta, Bonadonna, Patrizia, Scaffidi, Luigi, Doubek, Michael, Elberink, Hanneke Oude, Span, Lambert F. R., Hermine, Olivier, Elena, Chiara, Benvenuti, Pietro, Yavuz, Akif Selim, Brockow, Knut, Zink, Alexander, Aberer, Elisabeth, Gorska, Aleksandra, Romantowski, Jan, Hadzijusufovic, Emir, Fortina, Anna Belloni, Caroppo, Francesca, Perkins, Cecelia, Illerhaus, Anja, Panse, Jens, Vucinic, Vladan, Jawhar, Mohamad, Sabato, Vito, Triggiani, Massimo, Parente, Roberta, Bergström, Anna, Breynaert, Christine, Gotlib, Jason, Reiter, Andreas, Hartmann, Karin, Niedoszytko, Marek, Arock, Michel, Kluin-Nelemans, Hanneke C., Sperr, Wolfgang R., Greul, Rosemarie, and Valent, Peter

Abstract

BACKGROUND: Mastocytosis in adults often presents with skin lesions. A bone marrow biopsy is necessary to confirm or exclude the presence of systemic mastocytosis (SM) in these cases. When a bone marrow biopsy is not performed, the provisional diagnosis is mastocytosis in the skin (MIS). No generally accepted scoring system has been established to estimate the risk of SM in these patients. OBJECTIVE: To develop a risk score to predict SM in adults with MIS. METHODS: We examined 1145 patients with MIS from the European Competence Network on Mastocytosis Registry who underwent a bone marrow biopsy. A total of 944 patients had SM and 201 patients had cutaneous mastocytosis; 63.7% were female, and 36.3% were male. Median age was 44 +/- 13.3 years. The median serum tryptase level amounted to 29.3 +/- 81.9 ng/mL. We established a multivariate regression model using the whole population of patients as a training and validation set (bootstrapping). A risk score was developed and validated with receiver-operating curves. RESULTS: In the multivariate model, the tryptase level (P < .001), constitutional/cardiovascular symptoms (P = .014), and bone symptoms/osteoporosis (P < .001) were independent predictors of SM (P < .001; sensitivity, 90.7%; specificity, 69.1%). A 6-point risk score was established (risk, 10.7%-98.0%) and validated. CONCLUSIONS: Using a large data set of the European Competence Network on Mastocytosis Registry, we created a risk score to predict the presence of SM in patients with MIS. Although the score will need further validation in independent cohorts, our score seems to discriminate safely between patients with SM and with pure cutaneous mastocytosis. (C) 2020 American Academy of Allergy, Asthma & Immunology

Published
2021
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8. Cytogenetic and molecular aberrations and worse outcome for male patients in systemic mastocytosis

Author

Kluin-Nelemans, Hanneke C., Jawhar, Mohamad, Reiter, Andreas, van Anrooij, Bjorn, Gotlib, Jason, Hartmann, Karin, Illerhaus, Anja, Elberink, Hanneke N. G. Oude, Gorska, Aleksandra, Niedoszytko, Marek, Lange, Magdalena, Scaffidi, Luigi, Zanotti, Roberta, Bonadonna, Patrizia, Perkins, Cecelia, Elena, Chiara, Malcovati, Luca, Shoumariyeh, Khalid, von Bubnoff, Nikolas, Mueller, Sabine, Triggiani, Massimo, Parente, Roberta, Schwaab, Juliana, Kundi, Michael, Fortina, Anna Belloni, Caroppo, Francesca, Brockow, Knut, Zink, Alexander, Fuchs, David, Angelova-Fischer, Irena, Yavuz, Akif Selim, Doubek, Michael, Mattsson, Mattias, Hägglund, Hans, Panse, Jens, Simonowski, Anne, Sabato, Vito, Schug, Tanja, Jentzsch, Madlen, Breynaert, Christine, Varkonyi, Judit, Kennedy, Vanessa, Hermine, Olivier, Rossignol, Julien, Arock, Michel, Valent, Peter, Sperr, Wolfgang R., Kluin-Nelemans, Hanneke C., Jawhar, Mohamad, Reiter, Andreas, van Anrooij, Bjorn, Gotlib, Jason, Hartmann, Karin, Illerhaus, Anja, Elberink, Hanneke N. G. Oude, Gorska, Aleksandra, Niedoszytko, Marek, Lange, Magdalena, Scaffidi, Luigi, Zanotti, Roberta, Bonadonna, Patrizia, Perkins, Cecelia, Elena, Chiara, Malcovati, Luca, Shoumariyeh, Khalid, von Bubnoff, Nikolas, Mueller, Sabine, Triggiani, Massimo, Parente, Roberta, Schwaab, Juliana, Kundi, Michael, Fortina, Anna Belloni, Caroppo, Francesca, Brockow, Knut, Zink, Alexander, Fuchs, David, Angelova-Fischer, Irena, Yavuz, Akif Selim, Doubek, Michael, Mattsson, Mattias, Hägglund, Hans, Panse, Jens, Simonowski, Anne, Sabato, Vito, Schug, Tanja, Jentzsch, Madlen, Breynaert, Christine, Varkonyi, Judit, Kennedy, Vanessa, Hermine, Olivier, Rossignol, Julien, Arock, Michel, Valent, Peter, and Sperr, Wolfgang R.

Abstract

In systemic mastocytosis (SM), the clinical features and survival vary greatly. Patient-related factors determining the outcome in SM are largely unknown. Methods: We examined the impact of sex on the clinical features, progression-free survival (PFS), and overall survival (OS) in 3403 patients with mastocytosis collected in the registry of the European Competence Network on Mastocytosis (ECNM). The impact of cytogenetic and molecular genetic aberrations on sex differences was analyzed in a subset of patients. Results: Of all patients enrolled, 55.3% were females. However, a male predominance was found in a subset of advanced SM (AdvSM) patients, namely SM with an associated hematologic neoplasm (SM-AHN, 70%; p < 0.001). Correspondingly, organomegaly (male: 23% vs. female: 13%, p = 0.007) was more, whereas skin involvement (male: 71% vs. female: 86%, p = 0.001) was less frequent in males. In all patients together, OS (p < 0.0001) was significantly inferior in males, and also within the WHO sub-categories indolent SM, aggressive SM (ASM) and SM-AHN. PFS was significantly (p = 0.0002) worse in males when all patients were grouped together; due to low numbers of events, this significance persisted only in the subcategory smoldering SM. Finally, prognostically relevant cytogenetic abnormalities (10% vs. 5%, p = 0.006) or molecular aberrations (SRSF2/ASXLI/RUNXI profile; 63% vs. 40%, p = 0.003) were more frequently present in males. Conclusions: Male sex has a major impact on clinical features, disease progression, and survival in mastocytosis. Male patients have an inferior survival, which seems related to the fact that they more frequently develop a multi-mutated AdvSM associated with a high-risk molecular background.

Published
2021
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9. Cytogenetic and molecular aberrations and worse outcome for male patients in systemic mastocytosis

Author

Kluin-Nelemans, Hanneke C., Jawhar, Mohamad, Reiter, Andreas, van Anrooij, Bjorn, Gotlib, Jason, Hartmann, Karin, Illerhaus, Anja, Elberink, Hanneke N. G. Oude, Gorska, Aleksandra, Niedoszytko, Marek, Lange, Magdalena, Scaffidi, Luigi, Zanotti, Roberta, Bonadonna, Patrizia, Perkins, Cecelia, Elena, Chiara, Malcovati, Luca, Shoumariyeh, Khalid, von Bubnoff, Nikolas, Mueller, Sabine, Triggiani, Massimo, Parente, Roberta, Schwaab, Juliana, Kundi, Michael, Fortina, Anna Belloni, Caroppo, Francesca, Brockow, Knut, Zink, Alexander, Fuchs, David, Angelova-Fischer, Irena, Yavuz, Akif Selim, Doubek, Michael, Mattsson, Mattias, Hägglund, Hans, Panse, Jens, Simonowski, Anne, Sabato, Vito, Schug, Tanja, Jentzsch, Madlen, Breynaert, Christine, Varkonyi, Judit, Kennedy, Vanessa, Hermine, Olivier, Rossignol, Julien, Arock, Michel, Valent, Peter, Sperr, Wolfgang R., Kluin-Nelemans, Hanneke C., Jawhar, Mohamad, Reiter, Andreas, van Anrooij, Bjorn, Gotlib, Jason, Hartmann, Karin, Illerhaus, Anja, Elberink, Hanneke N. G. Oude, Gorska, Aleksandra, Niedoszytko, Marek, Lange, Magdalena, Scaffidi, Luigi, Zanotti, Roberta, Bonadonna, Patrizia, Perkins, Cecelia, Elena, Chiara, Malcovati, Luca, Shoumariyeh, Khalid, von Bubnoff, Nikolas, Mueller, Sabine, Triggiani, Massimo, Parente, Roberta, Schwaab, Juliana, Kundi, Michael, Fortina, Anna Belloni, Caroppo, Francesca, Brockow, Knut, Zink, Alexander, Fuchs, David, Angelova-Fischer, Irena, Yavuz, Akif Selim, Doubek, Michael, Mattsson, Mattias, Hägglund, Hans, Panse, Jens, Simonowski, Anne, Sabato, Vito, Schug, Tanja, Jentzsch, Madlen, Breynaert, Christine, Varkonyi, Judit, Kennedy, Vanessa, Hermine, Olivier, Rossignol, Julien, Arock, Michel, Valent, Peter, and Sperr, Wolfgang R.

Abstract

In systemic mastocytosis (SM), the clinical features and survival vary greatly. Patient-related factors determining the outcome in SM are largely unknown. Methods: We examined the impact of sex on the clinical features, progression-free survival (PFS), and overall survival (OS) in 3403 patients with mastocytosis collected in the registry of the European Competence Network on Mastocytosis (ECNM). The impact of cytogenetic and molecular genetic aberrations on sex differences was analyzed in a subset of patients. Results: Of all patients enrolled, 55.3% were females. However, a male predominance was found in a subset of advanced SM (AdvSM) patients, namely SM with an associated hematologic neoplasm (SM-AHN, 70%; p < 0.001). Correspondingly, organomegaly (male: 23% vs. female: 13%, p = 0.007) was more, whereas skin involvement (male: 71% vs. female: 86%, p = 0.001) was less frequent in males. In all patients together, OS (p < 0.0001) was significantly inferior in males, and also within the WHO sub-categories indolent SM, aggressive SM (ASM) and SM-AHN. PFS was significantly (p = 0.0002) worse in males when all patients were grouped together; due to low numbers of events, this significance persisted only in the subcategory smoldering SM. Finally, prognostically relevant cytogenetic abnormalities (10% vs. 5%, p = 0.006) or molecular aberrations (SRSF2/ASXLI/RUNXI profile; 63% vs. 40%, p = 0.003) were more frequently present in males. Conclusions: Male sex has a major impact on clinical features, disease progression, and survival in mastocytosis. Male patients have an inferior survival, which seems related to the fact that they more frequently develop a multi-mutated AdvSM associated with a high-risk molecular background.

Published
2021
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10. Clinical features and survival of patients with indolent systemic mastocytosis defined by the updated WHO classification

Author

Trizuljak, Jakub, Sperr, Wolfgang R., Nekvindova, Lucie, Elberink, Hanneke O., Gleixner, Karoline, V, Gorska, Aleksandra, Lange, Magdalena, Hartmann, Karin, Illerhaus, Anja, Bonifacio, Massimiliano, Perkins, Cecelia, Elena, Chiara, Malcovati, Luca, Fortina, Anna B., Shoumariyeh, Khalid, Jawhar, Mohamad, Zanotti, Roberta, Bonadonna, Patrizia, Caroppo, Francesca, Zink, Alexander, Triggiani, Massimo, Parente, Roberta, von Bubnoff, Nikolas, Yavuz, Akif S., Hägglund, Hans, Mattsson, Mattias, Panse, Jens, Jaekel, Nadja, Kilbertus, Alex, Hermine, Olivier, Arock, Michel, Fuchs, David, Sabato, Vito, Brockow, Knut, Bretterklieber, Agnes, Niedoszytko, Marek, van Anrooij, Bjorn, Reiter, Andreas, Gotlib, Jason, Kluin-Nelemans, Hanneke C., Mayer, Jiri, Doubek, Michael, Valent, Peter, Trizuljak, Jakub, Sperr, Wolfgang R., Nekvindova, Lucie, Elberink, Hanneke O., Gleixner, Karoline, V, Gorska, Aleksandra, Lange, Magdalena, Hartmann, Karin, Illerhaus, Anja, Bonifacio, Massimiliano, Perkins, Cecelia, Elena, Chiara, Malcovati, Luca, Fortina, Anna B., Shoumariyeh, Khalid, Jawhar, Mohamad, Zanotti, Roberta, Bonadonna, Patrizia, Caroppo, Francesca, Zink, Alexander, Triggiani, Massimo, Parente, Roberta, von Bubnoff, Nikolas, Yavuz, Akif S., Hägglund, Hans, Mattsson, Mattias, Panse, Jens, Jaekel, Nadja, Kilbertus, Alex, Hermine, Olivier, Arock, Michel, Fuchs, David, Sabato, Vito, Brockow, Knut, Bretterklieber, Agnes, Niedoszytko, Marek, van Anrooij, Bjorn, Reiter, Andreas, Gotlib, Jason, Kluin-Nelemans, Hanneke C., Mayer, Jiri, Doubek, Michael, and Valent, Peter

Abstract

Background: In indolent systemic mastocytosis (ISM), several risk factors of disease progression have been identified. Previous studies, performed with limited patient numbers, have also shown that the clinical course in ISM is stable and comparable to that of cutaneous mastocytosis (CM). The aim of this project was to compare the prognosis of patients with ISM with that of patients with CM. Methods: We employed a dataset of 1993 patients from the registry of the European Competence Network on Mastocytosis (ECNM) to compare outcomes of ISM and CM. Results: We found that overall survival (OS) is worse in ISM compared to CM. Moreover, in patients with typical ISM, bone marrow mastocytosis (BMM), and smoldering SM (SSM), 4.1% of disease progressions have been observed (4.9% of progressions in typical ISM group, 1.7% in BMM, and 9.4% in SSM). Progressions to advanced SM were observed in 2.9% of these patients. In contrast, six patients with CM (1.7%) converted to ISM and no definitive progression to advanced SM was found. No significant differences in OS and event-free survival (EFS) were found when comparing ISM, BMM, and SSM. Higher risk of both progression and death was significantly associated with male gender, worse performance status, and organomegaly. Conclusion: Our data confirm the clinical impact of the WHO classification that separates ISM from CM and from other SM variants.

Published
2020
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11. Prognostic impact of eosinophils in mastocytosis : analysis of 2350 patients collected in the ECNM Registry

Author

Kluin-Nelemans, Hanneke C., Reiter, Andreas, Illerhaus, Anja, van Anrooij, Bjorn, Hartmann, Karin, Span, Lambertus F. R., Gorska, Aleksandra, Niedoszytko, Marek, Lange, Magdalena, Scaffidi, Luigi, Zanotti, Roberta, Bonadonna, Patrizia, Perkins, Cecelia, Elena, Chiara, Malcovati, Luca, Shoumariyeh, Khalid, von Bubnoff, Nikolas, Parente, Roberta, Triggiani, Massimo, Schwaab, Juliana, Jawhar, Mohamad, Caroppo, Francesca, Fortina, Anna Belloni, Brockow, Knut, Zink, Alexander, Fuchs, David, Kilbertus, Alex, Yavuz, Akif Selim, Doubek, Michael, Mattsson, Mattias, Hägglund, Hans, Panse, Jens, Sabato, Vito, Aberer, Elisabeth, Niederwieser, Dietger, Breynaert, Christine, Varkonyi, Judit, Kennedy, Vanessa, Lortholary, Olivier, Jakob, Thilo, Hermine, Olivier, Rossignol, Julien, Arock, Michel, Gotlib, Jason, Valent, Peter, Sperr, Wolfgang R., Kluin-Nelemans, Hanneke C., Reiter, Andreas, Illerhaus, Anja, van Anrooij, Bjorn, Hartmann, Karin, Span, Lambertus F. R., Gorska, Aleksandra, Niedoszytko, Marek, Lange, Magdalena, Scaffidi, Luigi, Zanotti, Roberta, Bonadonna, Patrizia, Perkins, Cecelia, Elena, Chiara, Malcovati, Luca, Shoumariyeh, Khalid, von Bubnoff, Nikolas, Parente, Roberta, Triggiani, Massimo, Schwaab, Juliana, Jawhar, Mohamad, Caroppo, Francesca, Fortina, Anna Belloni, Brockow, Knut, Zink, Alexander, Fuchs, David, Kilbertus, Alex, Yavuz, Akif Selim, Doubek, Michael, Mattsson, Mattias, Hägglund, Hans, Panse, Jens, Sabato, Vito, Aberer, Elisabeth, Niederwieser, Dietger, Breynaert, Christine, Varkonyi, Judit, Kennedy, Vanessa, Lortholary, Olivier, Jakob, Thilo, Hermine, Olivier, Rossignol, Julien, Arock, Michel, Gotlib, Jason, Valent, Peter, and Sperr, Wolfgang R.

Abstract

Systemic mastocytosis (SM) is frequently associated with eosinophilia. To examine its prevalence and clinical impact in all WHO classification-based subcategories, we analyzed eosinophil counts in 2350 mastocytosis patients using the dataset of the European Competence Network on Mastocytosis. Ninety percent of patients had normal eosinophil counts, 6.8% mild eosinophilia (0.5-1.5x10(9)/l), and 3.1% hypereosinophilia (HE; >1.5x10(9)/l). Eosinophilia/HE were mainly present in patients with advanced SM (17%/19%), and only rarely recorded in patients with indolent and smoldering SM (5%/1%), and some patients with cutaneous mastocytosis. The eosinophil count correlated with organomegaly, dysmyelopoiesis, and the WHO classification, but not with mediator-related symptoms or allergy. Eosinophilia at diagnosis had a strong prognostic impact (p<0.0001) on overall survival (OS) and progression-free survival (PFS), with a 10-year OS of 19% for patients with HE, 70% for those with mild eosinophilia, and 88% for patients with normal eosinophil counts. In 89% of patients with follow-up data (n=1430, censored at start of cytoreductive therapy), eosinophils remained stable. In those with changing eosinophil counts (increase/decrease or mixed pattern), OS and PFS were inferior compared with patients with stable eosinophil counts. In conclusion, eosinophilia and HE are more prevalent in advanced SM and are predictors of a worse outcome.

Published
2020
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