Case and Research Letters
Mastocytosis With Associated Essential Thrombocythemia
Mastocitosis asociada a trombocitemia esencial
J. Marcoval
Servei de Dermatologia, Hospital Universitari de Bellvitge, Hospitalet de Llobregat, Barcelona, Spain
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Marcoval" "autores" => array:1 [ 0 => array:3 [ "nombre" => "J." "apellidos" => "Marcoval" "email" => array:1 [ 0 => "jmarcoval@bellvitgehospital.cat" ] ] ] "afiliaciones" => array:1 [ 0 => array:2 [ "entidad" => "Servei de Dermatologia, Hospital Universitari de Bellvitge, Hospitalet de Llobregat, Barcelona, Spain" "identificador" => "aff0005" ] ] ] ] "titulosAlternativos" => array:1 [ "es" => array:1 [ "titulo" => "Mastocitosis asociada a trombocitemia esencial" ] ] "resumenGrafico" => array:2 [ "original" => 0 "multimedia" => array:7 [ "identificador" => "fig0005" "etiqueta" => "Figure 1" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr1.jpeg" "Alto" => 1031 "Ancho" => 1517 "Tamanyo" => 216050 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">Clinical appearance of maculopapular mastocytosis lesions on the thighs (A) and forearm (B).</p>" ] ] ] "textoCompleto" => "<span class="elsevierStyleSections"><p id="par0005" class="elsevierStylePara elsevierViewall">Maculopapular cutaneous mastocytosis, previously known as urticaria pigmentosa, is the most common cutaneous expression of indolent systemic mastocytosis (SM) in adults. This condition usually does not require specific treatment.<a class="elsevierStyleCrossRef" href="#bib0055"><span class="elsevierStyleSup">1</span></a> However, SM can be associated with other hematologic malignancies.<a class="elsevierStyleCrossRef" href="#bib0060"><span class="elsevierStyleSup">2</span></a> We present the case of a patient with indolent SM who developed essential thrombocythemia during clinical follow-up.</p><p id="par0010" class="elsevierStylePara elsevierViewall">A 70-year-old woman with no relevant past history except dyslipidemia was referred to our dermatology department in 2005 for assessment of brownish papules measuring 3-5<span class="elsevierStyleHsp" style=""></span>mm in diameter on the limbs and upper chest that had appeared gradually over the previous 5 years (<a class="elsevierStyleCrossRef" href="#fig0005">Fig. 1</a>). On examination, the Darier sign was observed. The patient reported neither pruritus nor symptoms associated with mast cell degranulation. Skin biopsy revealed mast cell proliferation in the upper dermis. Serial bone radiography and abdominal ultrasound were normal. Complete blood count and serum biochemistry were normal except for tryptase levels (124<span class="elsevierStyleHsp" style=""></span>μg/L; normal<span class="elsevierStyleHsp" style=""></span><span class="elsevierStyleHsp" style=""></span><<span class="elsevierStyleHsp" style=""></span><span class="elsevierStyleHsp" style=""></span>11.4<span class="elsevierStyleHsp" style=""></span>μg/L). The patient was referred to the hematology department and underwent bone marrow aspiration, which revealed the presence of atypical mast cells consistent with a diagnosis of SM (flow cytometry detected 0.2% mast cells, 100% with pathologic phenotype CD2<span class="elsevierStyleHsp" style=""></span>+<span class="elsevierStyleHsp" style=""></span>/CD25<span class="elsevierStyleHsp" style=""></span>+<span class="elsevierStyleHsp" style=""></span>). Polymerase chain reaction detected the presence of the c-kit D816<span class="elsevierStyleHsp" style=""></span>V mutation. With a diagnosis of indolent SM, the patient was once again referred to the dermatology department without treatment. The platelet count increased gradually from 2010 to 2013 until it reached 741<span class="elsevierStyleHsp" style=""></span>×<span class="elsevierStyleHsp" style=""></span>10<span class="elsevierStyleSup">9</span>/L, at which point the patient was once again referred to the hematology department for assessment of thrombocytosis. The patient was diagnosed with mastocytosis associated with essential thrombocythemia–type myeloproliferative neoplasm. Treatment was initiated with oral hydroxyurea (500<span class="elsevierStyleHsp" style=""></span>mg, 3 d/wk) and oral clopidogrel (75<span class="elsevierStyleHsp" style=""></span>mg, every 48<span class="elsevierStyleHsp" style=""></span>h). The patient has not developed any symptoms associated with mast cell degranulation. The lesions on the arms and upper chest have gradually resolved and only a few lesions persist on the thighs. Platelet count has remained below 700<span class="elsevierStyleHsp" style=""></span>×<span class="elsevierStyleHsp" style=""></span>10<span class="elsevierStyleSup">9</span>/L and serum tryptase levels remain at around 100<span class="elsevierStyleHsp" style=""></span>μg/L.</p><elsevierMultimedia ident="fig0005"></elsevierMultimedia><p id="par0015" class="elsevierStylePara elsevierViewall">SM is classified as indolent SM, smoldering SM, aggressive SM, SM with associated clonal hematologic non-mast-cell lineage disease, mast cell leukemia, and mast cell sarcoma.<a class="elsevierStyleCrossRef" href="#bib0065"><span class="elsevierStyleSup">3</span></a> Indolent SM is the most common form, but it does not usually cause symptoms derived from mast cell infiltration and does not require cytoreductive therapy.<a class="elsevierStyleCrossRef" href="#bib0055"><span class="elsevierStyleSup">1</span></a> The second most common form is SM associated with hematologic disease, which accounts for between 21% and 44% of SM cases.<a class="elsevierStyleCrossRef" href="#bib0060"><span class="elsevierStyleSup">2</span></a> The hematologic disorders most frequently associated with SM are myeloproliferative syndromes (45% of cases), chronic myelomonocytic leukemia (29%), myelodysplastic syndromes (23%), and acute leukemia (3%).<a class="elsevierStyleCrossRef" href="#bib0060"><span class="elsevierStyleSup">2</span></a> Essential thrombocythemia is classified as a myeloproliferative syndrome. The association of SM with essential thrombocythemia is very rare. In a series of 123 patients with SM associated with hematologic disease, essential thrombocythemia accounted for only 6 cases.<a class="elsevierStyleCrossRef" href="#bib0060"><span class="elsevierStyleSup">2</span></a> Besides these 6 patients, the reviewed literature only contains a few isolated case reports describing the association between maculopapular mastocytosis and essential thrombocythemia.<a class="elsevierStyleCrossRefs" href="#bib0070"><span class="elsevierStyleSup">4–10</span></a></p><p id="par0020" class="elsevierStylePara elsevierViewall">Although the pathophysiologic relationship between mast cell proliferation and associated hematologic malignancies is not well established, some lineage distribution studies of the c-kit D816<span class="elsevierStyleHsp" style=""></span>V mutation suggest the existence of a common pluripotent hematopoietic stem cell in most patients.<a class="elsevierStyleCrossRef" href="#bib0060"><span class="elsevierStyleSup">2</span></a> In some cases, however, it is possible that the 2 clonal hematologic disorders may develop coincidentally in the same patient.<a class="elsevierStyleCrossRef" href="#bib0060"><span class="elsevierStyleSup">2</span></a></p><p id="par0025" class="elsevierStylePara elsevierViewall">When we talk about SM, we tend to think of asymptomatic mast cell infiltration in bone marrow or the rare aggressive forms of mastocytosis. However, we must also be aware of the possibility of association with other hematologic malignancies, as the case of essential thrombocythemia in our patient illustrates. The prognosis of indolent mastocytosis associated with clonal hematologic non-mast-cell lineage disease depends on the type of associated hematologic disorder. Cutaneous manifestations of mastocytosis can therefore be considered possible markers of a more severe associated hematologic disorder that may require specific treatment.</p><p id="par0030" class="elsevierStylePara elsevierViewall">All adult patients with mastocytosis should undergo a bone marrow study that includes mutational analysis and mast cell immunophenotyping. These patients require clinical follow-up not only because of the risk of developing aggressive forms of SM but also because of the risk of associated hematologic malignancies.</p><span id="sec0005" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0005">Conflicts of Interest</span><p id="par0035" class="elsevierStylePara elsevierViewall">The authors declare that they have no conflicts of interest.</p></span></span>" "textoCompletoSecciones" => array:1 [ "secciones" => array:2 [ 0 => array:2 [ "identificador" => "sec0005" "titulo" => "Conflicts of Interest" ] 1 => array:1 [ "titulo" => "References" ] ] ] "pdfFichero" => "main.pdf" "tienePdf" => true "NotaPie" => array:1 [ 0 => array:2 [ "etiqueta" => "☆" "nota" => "<p class="elsevierStyleNotepara" id="npar0005">Please cite this article as: Marcoval J. Mastocitosis asociada a trombocitemia esencial. Actas Dermosifiliogr. 2019;110:63–64.</p>" ] ] "multimedia" => array:1 [ 0 => array:7 [ "identificador" => "fig0005" "etiqueta" => "Figure 1" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr1.jpeg" "Alto" => 1031 "Ancho" => 1517 "Tamanyo" => 216050 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">Clinical appearance of maculopapular mastocytosis lesions on the thighs (A) and forearm (B).</p>" ] ] ] "bibliografia" => array:2 [ "titulo" => "References" "seccion" => array:1 [ 0 => array:2 [ "identificador" => "bibs0015" "bibliografiaReferencia" => array:10 [ 0 => array:3 [ "identificador" => "bib0055" "etiqueta" => "1" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Actualización en mastocitosis. 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| año/Mes | Html | Total | |
|---|---|---|---|
| 2024 Noviembre | 11 | 8 | 19 |
| 2024 Octubre | 111 | 46 | 157 |
| 2024 Septiembre | 142 | 31 | 173 |
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| 2024 Febrero | 103 | 39 | 142 |
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| 2023 Noviembre | 112 | 40 | 152 |
| 2023 Octubre | 115 | 49 | 164 |
| 2023 Septiembre | 125 | 35 | 160 |
| 2023 Agosto | 63 | 16 | 79 |
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| 2023 Marzo | 90 | 30 | 120 |
| 2023 Febrero | 85 | 17 | 102 |
| 2023 Enero | 57 | 25 | 82 |
| 2022 Diciembre | 61 | 45 | 106 |
| 2022 Noviembre | 54 | 29 | 83 |
| 2022 Octubre | 50 | 17 | 67 |
| 2022 Septiembre | 48 | 53 | 101 |
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| 2022 Mayo | 101 | 29 | 130 |
| 2022 Abril | 122 | 62 | 184 |
| 2022 Marzo | 142 | 64 | 206 |
| 2022 Febrero | 147 | 37 | 184 |
| 2022 Enero | 135 | 33 | 168 |
| 2021 Diciembre | 71 | 43 | 114 |
| 2021 Noviembre | 112 | 44 | 156 |
| 2021 Octubre | 83 | 64 | 147 |
| 2021 Septiembre | 76 | 41 | 117 |
| 2021 Agosto | 49 | 38 | 87 |
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| 2021 Mayo | 62 | 43 | 105 |
| 2021 Abril | 152 | 76 | 228 |
| 2021 Marzo | 83 | 48 | 131 |
| 2021 Febrero | 66 | 35 | 101 |
| 2021 Enero | 45 | 23 | 68 |
| 2020 Diciembre | 41 | 39 | 80 |
| 2020 Noviembre | 32 | 25 | 57 |
| 2020 Octubre | 37 | 9 | 46 |
| 2020 Septiembre | 36 | 22 | 58 |
| 2020 Agosto | 31 | 28 | 59 |
| 2020 Julio | 19 | 21 | 40 |
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| 2020 Mayo | 18 | 14 | 32 |
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| 2020 Marzo | 11 | 4 | 15 |
| 2020 Febrero | 2 | 0 | 2 |
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