Systemic Mastocytosis Associated with “Smoldering” Multiple Myeloma
A 79-year-old woman presented with a long history of peripheral eosinophilia. Previous right hemicolectomy for colonic polyposis was reported. Laboratory tests were notable for mild macrocitic anaemia and eosinophilia. β2 microglobulin and serum tryptase levels were elevated. Serum immunofixation re...
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| Format: | Article |
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MDPI AG
2021-01-01
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| Series: | Diagnostics |
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| Online Access: | https://www.mdpi.com/2075-4418/11/1/88 |
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| author | Magda Zanelli Stefano Ricci Maurizio Zizzo Francesca Sanguedolce Federica De Giorgi Andrea Palicelli Giovanni Martino Stefano Ascani |
| author_facet | Magda Zanelli Stefano Ricci Maurizio Zizzo Francesca Sanguedolce Federica De Giorgi Andrea Palicelli Giovanni Martino Stefano Ascani |
| author_sort | Magda Zanelli |
| collection | DOAJ |
| description | A 79-year-old woman presented with a long history of peripheral eosinophilia. Previous right hemicolectomy for colonic polyposis was reported. Laboratory tests were notable for mild macrocitic anaemia and eosinophilia. β2 microglobulin and serum tryptase levels were elevated. Serum immunofixation revealed IgA/kappa monoclonal protein. Bence-Jones protein was positive. Bone marrow (BM) biopsy revealed the coexistence of two neoplastic components. Cohesive clusters of bland-looking, spindle-shaped mast cells, representing 20% of marrow cellularity, were close to aggregates of mature plasma cells occupying 40% of marrow cellularity. Molecular analysis on marrow aspirate demonstrated KIT D816V mutation, TET2 mutation, monoallelic deletion of TP53/17p13 and trisomy of ATM/11q23. A bone density study revealed mild osteoporosis. Full skeletal X-rays and magnetic resonance imaging (MRI) of spine and hips showed multiple, small rarefaction areas and an old L1-L2 fracture, both ascribed to osteoporosis. The association of systemic mastocytosis (SM) and multiple myeloma (MM) is very uncommon. The coexistence of SM with MM placed our patient in the SM with associated clonal haematological non-mast-cell lineage disease (SM-AHN) subtype. Midostaurin therapy was started. |
| first_indexed | 2024-03-09T05:48:24Z |
| format | Article |
| id | doaj.art-b1abb027725646ae95a08f1bf73d77d1 |
| institution | Directory Open Access Journal |
| issn | 2075-4418 |
| language | English |
| last_indexed | 2024-03-09T05:48:24Z |
| publishDate | 2021-01-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Diagnostics |
| spelling | doaj.art-b1abb027725646ae95a08f1bf73d77d12023-12-03T12:19:39ZengMDPI AGDiagnostics2075-44182021-01-011118810.3390/diagnostics11010088Systemic Mastocytosis Associated with “Smoldering” Multiple MyelomaMagda Zanelli0Stefano Ricci1Maurizio Zizzo2Francesca Sanguedolce3Federica De Giorgi4Andrea Palicelli5Giovanni Martino6Stefano Ascani7Pathology Unit, Azienda Unità Sanitaria Locale-IRCCS di Reggio Emilia, 42122 Reggio Emilia, ItalyPathology Unit, Azienda Unità Sanitaria Locale-IRCCS di Reggio Emilia, 42122 Reggio Emilia, ItalySurgical Oncology Unit, Azienda Unità Sanitaria Locale-IRCCS di Reggio Emilia, 42122 Reggio Emilia, ItalyPathology Unit, Azienda Ospedaliero-Universitaria-Ospedali Riuniti di Foggia, 71122 Foggia, ItalyPathology Unit, Azienda Unità Sanitaria Locale-IRCCS di Reggio Emilia, 42122 Reggio Emilia, ItalyPathology Unit, Azienda Unità Sanitaria Locale-IRCCS di Reggio Emilia, 42122 Reggio Emilia, ItalyHematology Unit, CREO, Azienda Ospedaliera di Perugia, University of Perugia, 06129 Perugia, ItalyHematology Unit, CREO, Azienda Ospedaliera di Perugia, University of Perugia, 06129 Perugia, ItalyA 79-year-old woman presented with a long history of peripheral eosinophilia. Previous right hemicolectomy for colonic polyposis was reported. Laboratory tests were notable for mild macrocitic anaemia and eosinophilia. β2 microglobulin and serum tryptase levels were elevated. Serum immunofixation revealed IgA/kappa monoclonal protein. Bence-Jones protein was positive. Bone marrow (BM) biopsy revealed the coexistence of two neoplastic components. Cohesive clusters of bland-looking, spindle-shaped mast cells, representing 20% of marrow cellularity, were close to aggregates of mature plasma cells occupying 40% of marrow cellularity. Molecular analysis on marrow aspirate demonstrated KIT D816V mutation, TET2 mutation, monoallelic deletion of TP53/17p13 and trisomy of ATM/11q23. A bone density study revealed mild osteoporosis. Full skeletal X-rays and magnetic resonance imaging (MRI) of spine and hips showed multiple, small rarefaction areas and an old L1-L2 fracture, both ascribed to osteoporosis. The association of systemic mastocytosis (SM) and multiple myeloma (MM) is very uncommon. The coexistence of SM with MM placed our patient in the SM with associated clonal haematological non-mast-cell lineage disease (SM-AHN) subtype. Midostaurin therapy was started.https://www.mdpi.com/2075-4418/11/1/88mastocytosismyelomabone marrow |
| spellingShingle | Magda Zanelli Stefano Ricci Maurizio Zizzo Francesca Sanguedolce Federica De Giorgi Andrea Palicelli Giovanni Martino Stefano Ascani Systemic Mastocytosis Associated with “Smoldering” Multiple Myeloma Diagnostics mastocytosis myeloma bone marrow |
| title | Systemic Mastocytosis Associated with “Smoldering” Multiple Myeloma |
| title_full | Systemic Mastocytosis Associated with “Smoldering” Multiple Myeloma |
| title_fullStr | Systemic Mastocytosis Associated with “Smoldering” Multiple Myeloma |
| title_full_unstemmed | Systemic Mastocytosis Associated with “Smoldering” Multiple Myeloma |
| title_short | Systemic Mastocytosis Associated with “Smoldering” Multiple Myeloma |
| title_sort | systemic mastocytosis associated with smoldering multiple myeloma |
| topic | mastocytosis myeloma bone marrow |
| url | https://www.mdpi.com/2075-4418/11/1/88 |
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