Detection of the KIT D816V mutation in peripheral blood of systemic mastocytosis: diagnostic implications
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Recent studies have found the KIT D816V mutation in peripheral blood of virtually all adult systemic mastocytosis patients once highly sensitive PCR techniques were used; thus, detection of the KIT D816V mutation in peripheral blood has been proposed to be included in the diagnostic work-up of systemic mastocytosis algorithms. However, the precise frequency of the mutation, the biological significance of peripheral blood-mutated cells and their potential association with involvement of bone marrow hematopoietic cells other than mast cells still remain to be investigated. Here, we determined the frequency of peripheral blood involvement by the KIT D816V mutation, as assessed by two highly sensitive PCR methods, and investigated its relationship with multilineage involvement of bone marrow hematopoiesis. Overall, our results confirmed the presence of the KIT D816V mutation in peripheral blood of most systemic mastocytosis cases (161/190; 85%)--with an increasing frequency from indolent systemic mastocytosis without skin lesions (29/44; 66%) to indolent systemic mastocytosis with skin involvement (124/135; 92%), and more aggressive disease subtypes (11/11; 100%)--as assessed by the allele-specific oligonucleotide-qPCR method, which was more sensitive (P<.0001) than the peptide nucleic acid-mediated PCR approach (84/190; 44%). Although the presence of the KIT mutation in peripheral blood, as assessed by the allele-specific oligonucleotide-qPCR technique, did not accurately predict for multilineage bone marrow involvement of hematopoiesis, the allele-specific oligonucleotide-qPCR allele burden and the peptide nucleic acid-mediated-PCR approach did. These results suggest that both methods provide clinically useful and complementary information through the identification and/or quantification of the KIT D816V mutation in peripheral blood of patients suspected of systemic mastocytosis.
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Increased sensitivity of methodology has shown comparable results for mutational testing on BM and PB, with a discordance rate ranging from 5% to 10%.
“the increased sensitivity of the methodology has shown comparable results for mutational testing on BM and PB, with a discordance rate ranging from 5% to 10% (40, 42, 45, 46).”
From Defining “Normal” basal serum tryptase levels: a context-dependent approach to improve diagnostics in systemic mastocytosis (2025) · cites this paper as [40]
The Discussion reports that allele-specific oligonucleotide-qPCR is more sensitive than peptide nucleic acid-mediated PCR for detecting KIT D816V, supporting the methodology-sensitivity point. The paper compares peripheral-blood results with bone-marrow findings, but the passages do not establish comparable mutation-testing results in the two sample types or a 5%–10% discordance rate. (LLM, conf=0.82)
Experimental — accuracy not yet measuredASO-qPCR allows for highly sensitive and quantitative detection of KIT D816V variant, making it more suitable in samples with a low mutant allele burden.
“allele-specific oligonucleotide quantitative PCR (ASO-qPCR), which allows for highly sensitive and quantitative detection of KIT D816V variant, making it more suitable in samples with a low mutant allele burden (40).”
From Defining “Normal” basal serum tryptase levels: a context-dependent approach to improve diagnostics in systemic mastocytosis (2025) · cites this paper as [40]
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Cites
A new mathematical model for relative quantification in real-time RT-PCR
Pfaffl, M. W. (2001) · Nucleic Acids Research · doi:10.1093/nar/29.9.e45 · Cited by 34,610 · see citing works
WHO Classification of Tumours of Haematopoietic and Lymphoid Tissues
Swerdlow, S. H. (2017) · Medical Entomology and Zoology · Cited by 12,933 · see citing works
Diagnostic criteria and classification of mastocytosis: a consensus proposal
Valent, P., Horny, H., Escribano, L., Longley, B. J., Li, C. Y., Schwartz, L. B., Marone, G., Núñez, R., Akin, C., Sotlar, K., et al. (2001) · Leukemia Research · doi:10.1016/s0145-2126(01)00038-8 · Cited by 1,107 · see citing works
Self-citationEstablishment of an immature mast cell line from a patient with mast cell leukemia
Butterfield, J. H., Weiler, D., Dewald, G., & Gleich, G. J. (1988) · Leukemia Research · doi:10.1016/0145-2126(88)90050-1 · Cited by 737 · see citing works
García‐Montero, A. C. (2006) · Blood · doi:10.1182/blood-2006-04-015545 · Cited by 502 · see citing works
Mast cell activation syndrome: Proposed diagnostic criteria
Akin, C., Valent, P., & Metcalfe, D. D. (2010) · Journal of Allergy and Clinical Immunology · doi:10.1016/j.jaci.2010.08.035 · Cited by 327 · see citing works
Álvarez-Twose, I., González de Olano, D., Sánchez-Muñoz, L., Matito, A., Esteban-López, M. I., Vega, A., Mateo, M. B., Alonso Díaz de Durana, M. D., de la Hoz, B., del Pozo Gil, M. D., et al. (2010) · Journal of Allergy and Clinical Immunology · doi:10.1016/j.jaci.2010.02.019 · Cited by 294 · see citing works
Self-citationEscribano, L., Álvarez‐Twöse, I., Sánchez‐Muñoz, L., García‐Montero, A. C., Núñez, R., Almeida, J., Jara‐Acevedo, M., Teodósio, C., García‐Cosío, M., Bellas, C., et al. (2009) · Journal of Allergy and Clinical Immunology · doi:10.1016/j.jaci.2009.05.003 · Cited by 290 · see citing works
Self-citationArock, M., Sotlar, K., Akin, C., Broesby-Olsen, S., Hoermann, G., Escribano, L., Kristensen, T. K., Kluin-Nelemans, H. C., Hermine, O., Dubreuil, P., et al. (2015) · Leukemia · doi:10.1038/leu.2015.24 · Cited by 290 · see citing works
Self-citationKristensen, T., Vestergaard, H., & Møller, M. B. (2011) · The Journal of Molecular Diagnostics · doi:10.1016/j.jmoldx.2010.10.004 · Cited by 208 · see citing works
Sotlar, K., Escribano, L., Landt, O., Möhrle, S., Herrero, S., Torrelo, A., Laß, U., Horny, H., & Bültmann, B. D. (2003) · American Journal Of Pathology · doi:10.1016/s0002-9440(10)63870-9 · Cited by 207 · see citing works
Self-citationAlvarez-Twose, I., González-de-Olano, D., Sánchez-Muñoz, L., Matito, A., Jara-Acevedo, M., Teodosio, C., García-Montero, A., Morgado, J. M., Orfao, A., & Escribano, L. (2012) · International Archives of Allergy and Immunology · doi:10.1159/000329856 · Cited by 184 · see citing works
Self-citationValent, P., Escribano, L., Broesby‐Olsen, S., Hartmann, K., Grattan, C., Brockow, K., Niedoszytko, M., Nedoszytko, B., Oude Elberink, J. N. G., Kristensen, T., et al. (2014) · Allergy · doi:10.1111/all.12436 · Cited by 174 · see citing works
Self-citationYavuz, A. S., Lipsky, P. E., Yavuz, Ş., Metcalfe, D. D., & Akin, C. (2002) · Blood · doi:10.1182/blood-2002-01-0203 · Cited by 168 · see citing works
Akin, C., Kirshenbaum, A. S., Semere, T., Worobec, A. S., Scott, L. M., & Metcalfe, D. D. (2000) · Experimental Hematology · doi:10.1016/s0301-472x(99)00145-9 · Cited by 167 · see citing works
The KIT D816V expressed allele burden for diagnosis and disease monitoring of systemic mastocytosis
Erben, P., Schwaab, J., Metzgeroth, G., Horny, H., Jawhar, M., Sotlar, K., Fabarius, A. C., Teichmann, M., Schneider, S. O., Ernst, T., et al. (2013) · Annals of Hematology · doi:10.1007/s00277-013-1964-1 · Cited by 162 · see citing works
Álvarez-Twose, I., Zanotti, R., González-de-Olano, D., Bonadonna, P., Vega, A., Matito, A., Sánchez-Muñoz, L., Morgado, J. M., Perbellini, O., García-Montero, A., et al. (2014) · Journal of Allergy and Clinical Immunology · doi:10.1016/j.jaci.2013.06.020 · Cited by 142 · see citing works
Self-citationTeodósio, C., García‐Montero, A. C., Jara‐Acevedo, M., Sánchez‐Muñoz, L., Álvarez‐Twöse, I., Núñez, R., Schwartz, L. B., Walls, A. F., Escribano, L., & Órfão, A. (2010) · Journal of Allergy and Clinical Immunology · doi:10.1016/j.jaci.2009.10.020 · Cited by 138 · see citing works
Self-citationSensitive KIT D816V mutation analysis of blood as a diagnostic test in mastocytosis
Kristensen, T. K., Vestergaard, H., Bindslev‐Jensen, C., Møller, M. B., & Broesby‐Olsen, S. (2014) · American Journal of Hematology · doi:10.1002/ajh.23672 · Cited by 126 · see citing works
Hoermann, G., Gleixner, K. V., Dinu, G. E., Kundi, M., Greiner, G., Wimazal, F., Hadzijusufovic, E., Mitterbauer, G., Mannhalter, C., Valent, P., et al. (2014) · Allergy · doi:10.1111/all.12409 · Cited by 106 · see citing works
Evaluation of the WHO criteria for the classification of patients with mastocytosis
Sánchez‐Muñoz, L., Álvarez‐Twöse, I., García‐Montero, A. C., Teodósio, C., Jara‐Acevedo, M., Pedreira, C. E., Matito, A., Morgado, J. M., Sánchez, M. L., Mollejo, M., et al. (2011) · Modern Pathology · doi:10.1038/modpathol.2011.84 · Cited by 99 · see citing works
Self-citationPardanani, A. D., Reeder, T. L., Li, C., & Tefferi, A. (2003) · Leukemia Research · doi:10.1016/s0145-2126(03)00065-1 · Cited by 87 · see citing works
Teodósio, C., García‐Montero, A. C., Jara‐Acevedo, M., Álvarez‐Twöse, I., Sánchez‐Muñoz, L., Almeida, J., Morgado, J. M., Matito, A., Escribano, L., & Orfao, A. (2011) · Leukemia · doi:10.1038/leu.2011.293 · Cited by 69 · see citing works
Self-citationEscribano, L., García‐Montero, A. C., Núñez, R., & Órfão, A. (2006) · Immunology and Allergy Clinics of North America · doi:10.1016/j.iac.2006.05.008 · Cited by 66 · see citing works
Self-citationA morphometric study of neovascularization in colorectal carcinoma
Pavlopoulos, P. M., Konstantinidou, A. E., Agapitos, E. B., Kavantzas, N., Nikolopoulou, P., & Davaris, P. (1998) · Cancer · doi:10.1002/(sici)1097-0142(19981115)83:10 · Cited by 54 · see citing works
Clonality and Molecular Pathogenesis of Mastocytosis
Akin, C. (2005) · Acta Haematologica · doi:10.1159/000085563 · Cited by 54 · see citing works
Kocabaş, C. N., Yavuz, A. S., Lipsky, P. E., Metcalfe, D. D., & Akin, C. (2005) · Journal of Allergy and Clinical Immunology · doi:10.1016/j.jaci.2005.02.030 · Cited by 50 · see citing works
Kristensen, T. K., Broesby‐Olsen, S., Vestergaard, H., Bindslev‐Jensen, C., & Møller, M. B. (2012) · European Journal Of Haematology · doi:10.1111/j.1600-0609.2012.01789.x · Cited by 48 · see citing works
Taylor, M. L., Sehgal, D., Raffeld, M. A., Obiakor, H., Akin, C., Mage, R. G., & Metcalfe, D. D. (2004) · Journal of Molecular Diagnostics · doi:10.1016/s1525-1578(10)60529-6 · Cited by 45 · see citing works
Broesby‐Olsen, S., Kristensen, T., Vestergaard, H., Brixen, K., Møller, M. B., & Bindslev‐Jensen, C. (2013) · Journal of Allergy and Clinical Immunology · doi:10.1016/j.jaci.2013.02.019 · Cited by 42 · see citing works
Gene expression profile of highly purified bone marrow mast cells in systemic mastocytosis
Teodósio, C., García‐Montero, A. C., Jara‐Acevedo, M., Sánchez‐Muñoz, L., Pedreira, C. E., Álvarez‐Twöse, I., Matarraz, S., Morgado, J. M., Bárcena, P., Matito, A., et al. (2013) · Journal of Allergy and Clinical Immunology · doi:10.1016/j.jaci.2012.12.674 · Cited by 37 · see citing works
Self-citationMatito, A., Morgado, J. M., Álvarez‐Twöse, I., Sánchez‐Muñoz, L., Pedreira, C. E., Jara‐Acevedo, M., Teodósio, C., Sánchez-López, P., Fernández-Núñez, E., Moreno-Borque, R., et al. (2013) · PLoS ONE · doi:10.1371/journal.pone.0076116 · Cited by 36 · see citing works
Self-citation
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Research works printed but not linked: 1
- Worobec AS, Semere T, Nagata H et al. Clinical corre- lates of the presence of the Asp816Val c-kit mutation in the peripheral blood mononuclear cells of patients with mastocytosis. Cancer 1998;83:2120-2129.
Cited by
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Valent, P., Akin, C., Hartmann, K., Nilsson, G. P., Reiter, A., Hermine, O., Sotlar, K., Sperr, W. R., Escribano, L., George, T. I., et al. (2017) · Cancer Research · doi:10.1158/0008-5472.can-16-2234 · Cited by 247 · see citing works
Self-citationLyons, J. J., Chovanec, J., O’Connell, M. P., Liu, Y., Šelb, J., Zanotti, R., Bai, Y., Kim, J., Le, Q. T., DiMaggio, T., et al. (2021) · Journal of Allergy and Clinical Immunology · doi:10.1016/j.jaci.2020.06.035 · Cited by 230 · see citing works
Proposed Diagnostic Algorithm for Patients with Suspected Mast Cell Activation Syndrome
Valent, P., Akin, C., Bonadonna, P., Hartmann, K., Brockow, K., Niedoszytko, M., Nedoszytko, B., Siebenhaar, F., Sperr, W. R., Oude Elberink, J. N. G., et al. (2019) · The Journal of Allergy and Clinical Immunology: In Practice · doi:10.1016/j.jaip.2019.01.006 · Cited by 220 · see citing works
“Using a highly sensitive allelespecific quantitative PCR, the mutation can also be identified in the peripheral blood of most patients with SM.(73-79) However, in some adults and more commonly in children, other KIT point mutations are found.”
MethodMast Cells as Key Players in Allergy and Inflammation
González‐de‐Olano, D., & Álvarez‐Twöse, I. (2018) · Journal of Investigational Allergology and Clinical Immunology · doi:10.18176/jiaci.0327 · Cited by 118 · see citing works
Systemic Mastocytosis, Version 2.2019, NCCN Clinical Practice Guidelines in Oncology
Gotlib, J., Gerds, A. T., Bose, P., Castells, M. C., Deininger, M. W., Gojo, I., Gundabolu, K., Hobbs, G., Jamieson, C., McMahon, B., et al. (2018) · Journal of the National Comprehensive Cancer Network · doi:10.6004/jnccn.2018.0088 · Cited by 106 · see citing works
Álvarez‐Twöse, I., Matito, A., Morgado, J. M., Sánchez‐Muñoz, L., Jara‐Acevedo, M., García‐Montero, A. C., Mayado, A., Caldas, C., Teodósio, C., Muñoz‐González, J. I., et al. (2016) · Oncotarget · doi:10.18632/oncotarget.10711 · Cited by 102 · see citing works
Self-citationCarter, M. C., Desai, A., Komarow, H. D., Bai, Y., Clayton, S. T., Clark, A. S., Ruiz-Esteves, K. N., Long, L. M., Cantave, D., Wilson, T. M., et al. (2018) · Journal of Allergy and Clinical Immunology · doi:10.1016/j.jaci.2017.05.036 · Cited by 97 · see citing works
Mayo alliance prognostic system for mastocytosis: clinical and hybrid clinical-molecular models
Pardanani, A. D., Shah, S. H., Mannelli, F., Elala, Y. C., Guglielmelli, P., Lasho, T. L., Patnaik, M. M., Gangat, N., Ketterling, R. P., Reichard, K. K., et al. (2018) · Blood Advances · doi:10.1182/bloodadvances.2018026245 · Cited by 84 · see citing works
Digital PCR: A Sensitive and Precise Method for KIT D816V Quantification in Mastocytosis
Greiner, G., Gurbisz, M., Ratzinger, F., Witzeneder, N., Simonitsch-Klupp, I., Mitterbauer-Hohendanner, G., Mayerhofer, M., Müllauer, L., Sperr, W. R., Valent, P., et al. (2018) · Clinical Chemistry · doi:10.1373/clinchem.2017.277897 · Cited by 83 · see citing works
Pardanani, A. D., Lasho, T. L., Elala, Y. C., Wassie, E. A., Finke, C. M., Reichard, K. K., Chen, D., Hanson, C. A., Ketterling, R. P., & Tefferi, A. (2016) · American Journal of Hematology · doi:10.1002/ajh.24426 · Cited by 82 · see citing works
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Self-citationFrancuzik, W., Ruëff, F., Bauer, A., Bilò, M. B., Cardona, V., Christoff, G., Dölle-Bierke, S., Ensina, L. F., Fernández‐Rivas, M., Hawranek, T., et al. (2020) · Journal of Allergy and Clinical Immunology · doi:10.1016/j.jaci.2020.06.008 · Cited by 71 · see citing works
Mayado, A., Teodósio, C., García‐Montero, A. C., Matito, A., Rodríguez‐Caballero, A., Morgado, J. M., Muñiz, C., Jara‐Acevedo, M., Álvarez‐Twöse, I., Sánchez‐Muñoz, L., et al. (2015) · Leukemia · doi:10.1038/leu.2015.176 · Cited by 71 · see citing works
Self-citationMuñoz‐González, J. I., Álvarez‐Twöse, I., Jara‐Acevedo, M., Zanotti, R., Perkins, C., Jawhar, M., Sperr, W. R., Shoumariyeh, K., Schwaab, J., Greiner, G., et al. (2021) · The Lancet Haematology · doi:10.1016/s2352-3026(20)30400-2 · Cited by 71 · see citing works
Self-citationBlank, S., Grosch, J., Ollert, M. W., & Bilò, M. B. (2020) · Frontiers in Immunology · doi:10.3389/fimmu.2020.579409 · Cited by 68 · see citing works
Pieri, L., Bonadonna, P., Elena, C., Papayannidis, C., Grifoni, F. I., Rondoni, M., Girlanda, S., Mauro, M., Magliacane, D., Elli, E. M., et al. (2016) · American Journal of Hematology · doi:10.1002/ajh.24382 · Cited by 67 · see citing works
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Self-citationMast cell ontogeny: From fetal development to life‐long health and disease
Chia, S. L., Kapoor, S. S., Carvalho, C., Bajénoff, M., & Gentek, R. (2023) · Immunological Reviews · doi:10.1111/imr.13191 · Cited by 57 · see citing works
Impact of somatic and germline mutations on the outcome of systemic mastocytosis
Muñoz‐González, J. I., Jara‐Acevedo, M., Álvarez‐Twöse, I., Merker, J. D., Teodósio, C., Hou, Y., Henriques, A., Roskin, K. M., Sánchez‐Muñoz, L., Tsai, A. G., et al. (2018) · Blood Advances · doi:10.1182/bloodadvances.2018020628 · Cited by 55 · see citing works
Self-citationCarter, M. C., Bai, Y., Ruiz-Esteves, K. N., Scott, L. M., Cantave, D., Bolan, H., Eisch, R. A., Sun, X., Hahn, J., Marić, I., et al. (2018) · British Journal of Haematology · doi:10.1111/bjh.15624 · Cited by 52 · see citing works
Hoermann, G., Sotlar, K., Jawhar, M., Kristensen, T. K., Bachelot, G., Nedoszytko, B., Carter, M. C., Horny, H., Bonadonna, P., Sperr, W. R., et al. (2022) · The Journal of Allergy and Clinical Immunology In Practice · doi:10.1016/j.jaip.2022.03.001 · Cited by 50 · see citing works
Fetal-Derived Immune Cells at the Roots of Lifelong Pathophysiology
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García‐Montero, A. C., Jara‐Acevedo, M., Álvarez‐Twöse, I., Teodósio, C., Sánchez‐Muñoz, L., Muñiz, C., Muñoz‐González, J. I., Mayado, A., Matito, A., Caldas, C., et al. (2015) · Blood · doi:10.1182/blood-2015-07-655100 · Cited by 42 · see citing works
Self-citationKristensen, T., Vestergaard, H., Bindslev‐Jensen, C., Mortz, C. G., Kjaer, H. F., Ollert, M., Møller, M. B., Broesby‐Olsen, S., & the Mastocytosis Centre Odense University Hospital (MastOUH) (2017) · Allergy · doi:10.1111/all.13187 · Cited by 38 · see citing works
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Navarro‐Navarro, P., Álvarez‐Twose, I., Pérez‐Pons, A., Henriques, A., Mayado, A., García‐Montero, A. C., Sánchez‐Muñoz, L., González‐López, O., Matito, A., Caldas, C., et al. (2023) · Allergy · doi:10.1111/all.15584 · Cited by 35 · see citing works
Self-citationGrootens, J., Ungerstedt, J. S., Ekoff, M., Rönnberg, E., Klimkowska, M., Amini, R., Arock, M., Söderlund, S., Mattsson, M., Nilsson, G. P., et al. (2019) · EBioMedicine · doi:10.1016/j.ebiom.2019.03.089 · Cited by 34 · see citing works
Russell, N., Jennings, S., Jennings, B., Slee, V., Sterling, L., Castells, M., Valent, P., & Akin, C. (2019) · The Journal of Allergy and Clinical Immunology In Practice · doi:10.1016/j.jaip.2018.07.032 · Cited by 31 · see citing works
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Rama, T. A., Morgado, J. M., Henriques, A., Escribano, L., Álvarez‐Twöse, I., Sánchez‐Muñoz, L., Moreira, A. M., Romão, J., Órfão, A., & Matito, A. (2022) · Clinical and Translational Allergy · doi:10.1002/clt2.12132 · Cited by 29 · see citing works
Self-citationAkin, C., Arock, M., Carter, M. C., George, T. I., & Valent, P. (2025) · Nature Reviews Disease Primers · doi:10.1038/s41572-025-00611-8 · Cited by 28 · see citing works
Pyatilova, P., Akin, C., Alvarez-Twose, I., Arock, M., Bonadonna, P., Brockow, K., Butterfield, J. H., Broesby-Olsen, S., Carter, M. C., Castells, M., et al. (2022) · The Journal of Allergy and Clinical Immunology In Practice · doi:10.1016/j.jaip.2022.05.037 · Cited by 27 · see citing works
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Martelli, M., Monaldi, C., Santis, S. D., Bruno, S., Mancini, M., Cavo, M., & Soverini, S. (2020) · International Journal of Molecular Sciences · doi:10.3390/ijms21113987 · Cited by 25 · see citing works
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González‐de‐Olano, D., Matito, A., Órfão, A., & Escribano, L. (2016) · F1000Research · doi:10.12688/f1000research.9565.1 · Cited by 21 · see citing works
Self-citationRama, T. A., Torrado, I., Henriques, A. F., Sánchez-Muñoz, L., Jara-Acevedo, M., Navarro-Navarro, P., Caldas, C., Mayado, A., Muñoz-González, J., García-Montero, A., et al. (2023) · The Journal of Allergy and Clinical Immunology: In Practice · doi:10.1016/j.jaip.2022.11.042 · Cited by 20 · see citing works
Self-citationLange, M., Zawadzka, A., Schrörs, S., Słomka, J., Ługowska‐Umer, H., Nedoszytko, B., & Nowicki, R. J. (2017) · Advances in Dermatology and Allergology · doi:10.5114/ada.2017.69308 · Cited by 20 · see citing works
Taylor, F. C., Akin, C., Lamoureux, R. E., Padilla, B., Green, T., Boral, A. L., Mazar, I., Mar, B. G., Shields, A. L., & Siebenhaar, F. (2021) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-021-02035-5 · Cited by 20 · see citing works
Disease Spectrum of Anaphylaxis Disorders
González de Olano, D., Cain, W. V., Bernstein, J. A., & Akin, C. (2023) · The Journal of Allergy and Clinical Immunology In Practice · doi:10.1016/j.jaip.2023.05.012 · Cited by 19 · see citing works
González‐López, Ó., Muñoz‐González, J. I., Órfão, A., Álvarez‐Twöse, I., & García‐Montero, A. C. (2022) · Cancers · doi:10.3390/cancers14102487 · Cited by 21 · see citing works
Self-citationIdiopathic Anaphylaxis: A Form of Mast Cell Activation Syndrome
Giannetti, M. P., Akin, C., & Castells, M. (2020) · The Journal of Allergy and Clinical Immunology In Practice · doi:10.1016/j.jaip.2019.10.048 · Cited by 22 · see citing works
Mastocytosis presenting as insect anaphylaxis: gender differences and natural history
Álvarez‐Twöse, I., & Matito, A. (2019) · Current Opinion in Allergy and Clinical Immunology · doi:10.1097/aci.0000000000000567 · Cited by 18 · see citing works
Self-citationClinical Approach to Mast Cell Activation Syndrome: A Practical Overview
Matito, A., Escribese, M. M., Longo, N., Mayorga, C., Luengo, O., Pérez‐Gordo, M., Matheu, V. M., Labrador‐Horrillo, M., & Seoane-Reula, E. (2021) · Journal of Investigational Allergology and Clinical Immunology · doi:10.18176/jiaci.0675 · Cited by 16 · see citing works
Self-citationMayado, A., Teodósio, C., Dasilva, N., Jara‐Acevedo, M., García‐Montero, A. C., Álvarez‐Twöse, I., Sánchez‐Muñoz, L., Matito, A., Caldas, C., Muñoz‐González, J. I., et al. (2018) · Allergy · doi:10.1111/all.13413 · Cited by 16 · see citing works
Self-citationPadilla, B., Shields, A. L., Taylor, F. C., Li, X., Mcdonald, J., Green, T., Boral, A. L., Lin, H., Akin, C., Siebenhaar, F., et al. (2021) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-021-02037-3 · Cited by 15 · see citing works
KIT Mutations and Other Genetic Defects in Mastocytosis
Chantran, Y., Valent, P., & Arock, M. (2023) · Immunology and Allergy Clinics of North America · doi:10.1016/j.iac.2023.04.008 · Cited by 14 · see citing works
Diagnosis of Primary Mast Cell Disorders in Anaphylaxis: Value of KIT D816V in Peripheral Blood
De Puysseleyr, L. P., Ebo, D. G., Elst, J., Faber, M. A., Poorten, M.-L. V. D., Van Gasse, A. L., Bridts, C. H., Mertens, C., Van Houdt, M., Hagendorens, M. M., et al. (2021) · The Journal of Allergy and Clinical Immunology In Practice · doi:10.1016/j.jaip.2021.04.062 · Cited by 13 · see citing works
Bibi, S., Zhang, Y., Hugonin, C., Dépond, M., He, L., Wedeh, G., Launay, J., van Rijn, S., Wurdinger, T. D., Louache, F., et al. (2016) · Oncotarget · doi:10.18632/oncotarget.12824 · Cited by 13 · see citing works
Frequency and prognostic impact of blood-circulating tumor mast cells in mastocytosis
Henriques, A., Muñoz‐González, J. I., Sánchez‐Muñoz, L., Matito, A., Torres-Rivera, L., Jara‐Acevedo, M., Caldas, C., Mayado, A., Pérez‐Pons, A., García‐Montero, A. C., et al. (2021) · Blood · doi:10.1182/blood.2021012694 · Cited by 12 · see citing works
Self-citationNavarro‐Navarro, P., González-Tablas, M., Pérez‐Pons, A., Sánchez‐Muñoz, L., Henriques, A., Álvarez‐Twöse, I., Nafria, P., Araco-Sánchez, D., Morales‐Cabeza, C., Caligaris, H., et al. (2025) · Blood · doi:10.1182/blood.2025029507 · Cited by 11 · see citing works
Self-citationClinical validation of a new commercial highly sensitive KIT D816V mutation analysis in mastocytosis
Kristensen, T. K., Vestergaard, H., Bindslev‐Jensen, C., Møller, M. B., & Broesby‐Olsen, S. (2019) · Allergy · doi:10.1111/all.14165 · Cited by 11 · see citing works
Mast cell diseases in patients with insect venom allergy: implications for diagnosis and therapy
Ruëff, F., Mastnik, S., & Oppel, E. M. (2017) · Allergo Journal International · doi:10.1007/s40629-017-0023-1 · Cited by 10 · see citing works
Fernandes, I. C., Sampaio, R., Moreno, F., Garcia, J. P., Teixeira, M. D. A., Freitas, I. C., Neves, E., Jara‐Acevedo, M., Escribano, L., & Lima, M. (2017) · Allergy Asthma and Clinical Immunology · doi:10.1186/s13223-017-0193-x · Cited by 10 · see citing works
Self-citationElst, J., Ebo, D. G., Faber, M. A., Gasse, A. L. V., Decuyper, I. I., van der Poorten, M. M., Bridts, C. H., Puysseleyr, L. P. D., Mertens, C. H., Hagendorens, M. M., et al. (2021) · Journal of Immunological Methods · doi:10.1016/j.jim.2021.113061 · Cited by 10 · see citing works
Poluben, L., Puligandla, M., Neuberg, D. S., Bryke, C. R., Hsu, Y., Shumeiko, O., Yuan, X., Voznesensky, O. S., Pihan, G. A., Adam, M., et al. (2018) · American Journal of Hematology · doi:10.1002/ajh.25307 · Cited by 10 · see citing works
Pathogenic and diagnostic relevance of KIT in primary mast cell activation disorders
Muñoz‐González, J. I., García‐Montero, A. C., Órfão, A., & Álvarez‐Twöse, I. (2021) · Annals of Allergy Asthma & Immunology · doi:10.1016/j.anai.2021.07.014 · Cited by 9 · see citing works
Self-citationKristensen, T. K., Broesby‐Olsen, S., Vestergaard, H., Bindslev‐Jensen, C., & Møller, M. B. (2016) · British Journal of Haematology · doi:10.1111/bjh.14123 · Cited by 9 · see citing works
Shields, A. L., Taylor, F. C., Lamoureux, R. E., Padilla, B., Severson, K., Green, T., Boral, A. L., Akin, C., Siebenhaar, F., & Mar, B. G. (2023) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-023-02661-1 · Cited by 8 · see citing works
Psychometric evaluation of the Advanced Systemic Mastocytosis Symptom Assessment Form (AdvSM-SAF)
Taylor, F. C., Li, X., Yip, C., Padilla, B., Mar, B. G., Green, T., Oren, R. G., Boral, A. L., Lin, H., Shields, A. L., et al. (2021) · Leukemia Research · doi:10.1016/j.leukres.2021.106606 · Cited by 8 · see citing works
Bossi, G., Brazzelli, V., AMICI, M. D., Pietra, D., Raviola, C., Naso, M., Regalbuto, C., Boselli, F., Fortina, V., & Marseglia, G. L. (2023) · The Italian Journal of Pediatrics/Italian journal of pediatrics · doi:10.1186/s13052-022-01402-7 · Cited by 7 · see citing works
Skewed Lymphocyte Subpopulations and Associated Phenotypes in Patients with Mastocytosis
Kulinski, J. M., Eisch, R. A., Young, M. L., Rampertaap, S., Stoddard, J. L., Monsale, J., Romito, K., Lyons, J. J., Rosenzweig, S. D., Metcalfe, D. D., et al. (2019) · The Journal of Allergy and Clinical Immunology In Practice · doi:10.1016/j.jaip.2019.07.004 · Cited by 7 · see citing works
Li, Y., Li, X., Liu, X., Kang, L., & Liu, X. (2020) · Journal of International Medical Research · doi:10.1177/0300060520952621 · Cited by 7 · see citing works
SYSTEMIC MASTOCYTOSIS: MOLECULAR LANDSCAPE AND IMPLICATIONS FOR TREATMENT
Monaldi, C., Santis, S. D., Mancini, M., Bruno, S., Cavo, M., & Soverini, S. (2021) · Mediterranean Journal of Hematology and Infectious Diseases · doi:10.4084/mjhid.2021.046 · Cited by 7 · see citing works
Chifotides, H. T., & Bose, P. (2024) · Clinical Lymphoma Myeloma & Leukemia · doi:10.1016/j.clml.2024.06.005 · Cited by 7 · see citing works
Greenberger, P. A., & Metcalfe, D. D. (2019) · The Journal of Allergy and Clinical Immunology In Practice · doi:10.1016/j.jaip.2018.11.019 · Cited by 6 · see citing works
T‐cell immune profile in blood of systemic mastocytosis: Association with disease features
Pérez‐Pons, A., Teodósio, C., Jara‐Acevedo, M., Henriques, A., Navarro‐Navarro, P., García‐Montero, A. C., Álvarez‐Twöse, I., Lécrevisse, Q., Fluxá, R., Sánchez‐Muñoz, L., et al. (2024) · Allergy · doi:10.1111/all.16043 · Cited by 5 · see citing works
Self-citationÁlvarez‐Twöse, I., & Carter, M. C. (2019) · Springer eBooks · doi:10.1007/978-3-030-27820-5_6 · Cited by 5 · see citing works
New treatments for systemic mastocytosis in 2025
Costanzo, G., Marzio, V., Cavaglià, E., Paoletti, G., & Heffler, E. M. (2025) · Current Opinion in Allergy and Clinical Immunology · doi:10.1097/aci.0000000000001079 · Cited by 4 · see citing works
Hoermann, G., Orfao, A., Lyons, J. J., Chantran, Y., Broesby‐Olsen, S., Sabato, V., & Arock, M. (2025) · The Journal of Allergy and Clinical Immunology In Practice · doi:10.1016/j.jaip.2025.07.055 · Cited by 4 · see citing works
Self-citationSystemic mastocytosis with an associated hematological neoplasms: One or two entities?
Njue, L. M., Porret, N. A., Fux, M., Bacher, U., Banz, Y., & Rovó, A. (2020) · eJHaem · doi:10.1002/jha2.22 · Cited by 4 · see citing works
Kristensen, T. K., Broesby‐Olsen, S., Vestergaard, H., Bindslev‐Jensen, C., Mortz, C. G., Kjær, H. F., Møller, M. B., & on behalf of the Mastocytosis Centre Odense University Hospital (MastOUH) (2018) · Leukemia & lymphoma/Leukemia and lymphoma · doi:10.1080/10428194.2018.1460475 · Cited by 4 · see citing works
Rama, T. A., Gülen, T., Brockow, K., Bonadonna, P., Sabato, V., Grattan, C. E. H., Broesby‐Olsen, S., Altrichter, S., Siebenhaar, F., Walusiak‐Skorupa, J., et al. (2026) · Allergy · doi:10.1111/all.70344 · Cited by 3 · see citing works
Childhood mastocytosis: challenges and potential shortfalls in current disease classification
Torrelo, A., Colmenero, I., & Álvarez‐Twöse, I. (2025) · British Journal of Dermatology · doi:10.1093/bjd/ljaf141 · Cited by 3 · see citing works
The evaluation, management, and future of indolent systemic mastocytosis
Syal, A., Toh, J., McInerney, A., & Tremblay, D. A. (2025) · Annals of Hematology · doi:10.1007/s00277-025-06475-y · Cited by 3 · see citing works
Mannelli, F. (2020) · Annals of Hematology · doi:10.1007/s00277-020-04323-9 · Cited by 3 · see citing works
Intertriginous maculopapular mastocytosis in a patient with acute myeloid leukemia
Herrero‐Moyano, M., Capusan, T. M., Pérez-Plaza, A., Godoy, A., & Sánchez-Pérez, J. (2017) · JAAD Case Reports · doi:10.1016/j.jdcr.2016.11.004 · Cited by 3 · see citing works
Bone Marrow Expression of Mast Cell Disorders
Sánchez‐Muñoz, L., Henriques, A., Álvarez‐Twöse, I., & Matito, A. (2018) · Immunology and Allergy Clinics of North America · doi:10.1016/j.iac.2018.04.012 · Cited by 3 · see citing works
Self-citationCrupi, F., Caroprese, J., & Mannelli, F. (2025) · Frontiers in Allergy · doi:10.3389/falgy.2025.1592001 · Cited by 2 · see citing works
Aggressive systemic mastocytosis of the liver with cholangitis
Waldburger, N., Rupp, C., Klinke, S., Wieczorek, K. S., Gotthardt, D. N., Kirchner, T., Schirmacher, P., & Straub, B. K. (2015) · Hepatic Oncology · doi:10.2217/hep.15.33 · Cited by 2 · see citing works
Üstün, C., Zhang, M., Peterson, A., Baek, A., Agha, M., Alkhateeb, H. B., Chhabra, S., Coltoff, A., Lima, M. J. G. D., Gandhi, A. P., et al. (2025) · British Journal of Haematology · doi:10.1111/bjh.70154 · Cited by 2 · see citing works
Diagnosing Systemic Mastocytosis: State of the Art
Rets, A. V., & George, T. I. (2025) · International Journal of Laboratory Hematology · doi:10.1111/ijlh.70011 · Cited by 2 · see citing works
Ruëff, F., Mastnik, S., & Oppel, E. M. (2017) · Allergo Journal · doi:10.1007/s15007-017-1354-4 · Cited by 2 · see citing works
Approach to Idiopathic Anaphylaxis in Adolescents
Conner, J. E., & Steinberg, J. A. (2023) · Medical Clinics of North America · doi:10.1016/j.mcna.2023.05.018 · Cited by 2 · see citing works
Hymenoptera anaphylaxis and mast cell activation disorders
González‐de‐Olano, D., & Álvarez‐Twöse, I. (2025) · Current Opinion in Allergy and Clinical Immunology · doi:10.1097/aci.0000000000001088 · Cited by 2 · see citing works
Xu, W. (2016) · Springer eBooks · doi:10.1007/978-981-10-1618-9_18 · Cited by 2 · see citing works
Predictors of Clonality and Underlying Mastocytosis in Mast Cell Activation Syndromes
González‐de‐Olano, D., & Álvarez‐Twöse, I. (2024) · Current Allergy and Asthma Reports · doi:10.1007/s11882-023-01122-w · Cited by 1 · see citing works
La previsión del futuro en la empresa
de Aizpuru, M. A. T. (1987) · Dialnet (Universidad de la Rioja) · Cited by 1 · see citing works
Insect Sting Allergy and Mast Cell Disease
Bonadonna, P., Zanotti, R., & Ruëff, F. (2017) · Springer eBooks · doi:10.1007/978-3-319-46192-2_16
Grootens, J., Ungerstedt, J. S., Ekoff, M., Rönnberg, E., Klimkowska, M., Amini, R., Arock, M., Söderlund, S., Mattsson, M., Nilsson, G. P., et al. (2018) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/394304
SPECTRUM OF AFFECTED GENES IN UKRAINIAN PATIENTS WITH PRIMARY MYELOFIBROSIS
Poluben, L., Chen, S., Yuan, X., Shumeiko, O. H., Voznesensky, O. S., Adam, M., Fraenkel, E., Rasnic, R., Michal Linial, B., Klymenko, S. V., et al. (2018) · Bulletin of Problems Biology and Medicine · doi:10.29254/2077-4214-2018-4-2-147-204-208
Arcila, M. E., & Ho, C. (2019) · Springer eBooks · doi:10.1007/978-3-030-22922-1_15
KIT and Other Mutations in Mastocytosis
Bibi, S., & Arock, M. (2019) · Springer eBooks · doi:10.1007/978-3-030-27820-5_13
The use of midostaurin in the treatment of advanced systemic mastocytosis
Hus, M., Szudy‐Szczyrek, A., Kozińska, J., & Bachanek-Mitura, O. (2021) · Hematology in Clinical Practice · doi:10.5603/hcp.2021.0010
Polivka, L., & Bodemer, C. (2021) · Annales de Dermatologie et de Vénéréologie - FMC · doi:10.1016/j.fander.2021.05.006
Hermine, O. (2019) · Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature · doi:10.3410/f.727734869.793566953
Mastocitosis en un hospital público de Guatemala
Chen-Qiu, S., Flores, A. J., Mayén, P., & Martínez, K. (2022) · Revista Medicina Cutánea Ibero-Latino-Americana · doi:10.24875/mcut.21000013
- Authors
- Jara-Acevedo, M., Teodosio, C., Sanchez-Muñoz, L., Álvarez-Twose, I., Mayado, A., Caldas, C., Matito, A., Morgado, J. M., Muñoz-González, J. I., Escribano, L., Garcia-Montero, A. C., & Orfao, A.
- Affiliations
- Universidad de Salamanca (ES)
- Hospital Virgen del Valle (ES)
- Venue
- Modern Pathology
- Publisher
- Elsevier BV
- Published
- 2015-08
- Volume
- 28
- Issue
- 8
- Pages
- 1138-1149
- ISSN
- 0893-3952 (ISSN-L)
- OpenAlex
- W570387683
- Cited by
- 114
- References
- 33
- Citations by year
- 2026: 3 · 2025: 15 · 2024: 4 · 2023: 7 · 2022: 7 · 2021: 17 · 2020: 10 · 2019: 12 · 2018: 16 · 2017: 12 · 2016: 7 · 2015: 3
- FWCI
- 6.25
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- Locations
- Modern Pathology (publishedVersion)
- PubMed (publishedVersion)
- EUR Research Repository (Erasmus University Rotterdam) (publishedVersion)
- EUR Research Repository (Erasmus University Rotterdam) (submittedVersion)
- DIGITAL.CSIC (Spanish National Research Council (CSIC)) (submittedVersion)
- Funders
- Fundación Mutua Madrileña
- Instituto de Salud Carlos III (PI11/, RD12/0036/0048, PT13/0001)
- Topics
- Life Sciences › Immunology and Microbiology › Immunology › Mast cells and histamine
- Health Sciences › Medicine › Gastroenterology › Gastrointestinal Tumor Research and Treatment
- Health Sciences › Medicine › Rheumatology › Eosinophilic Disorders and Syndromes
- Keywords
- systemic mastocytosis, KIT D816V mutation, peripheral blood, mutation detection, allele burden, indolent systemic mastocytosis, diagnostic workup
- MeSH terms
- Bone Marrow Cells, Bone Marrow Examination, DNA Mutational Analysis, Exons, Genetic Markers, Hematopoiesis, Humans, Mast Cells, Mutation, Phenotype, Predictive Value of Tests, Severity of Illness Index, Spain, Polymerase Chain Reaction, Proto-Oncogene Proteins c-kit, Cell Lineage, Genetic Predisposition to Disease, Mastocytosis, Systemic
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