John Max Vincent, Simonitsch-Klupp Ingrid, Griss Johannes, Waldstein Cora, Herrmann Harald, Gaiger Alexander, Gleixner Karoline V, Sperr Wolfgang R, Valent Peter
Department of Internal Medicine I, Division of Hematology and Hemostaseology, Medical University of Vienna, Vienna, Austria.
Ludwig Boltzmann Institute for Hematology and Oncology, Medical University of Vienna, Vienna, Austria.
Ann Hematol. 2025 Sep 6. doi: 10.1007/s00277-025-06588-4.
In a subset of patients with systemic mastocytosis (SM), an associated hematologic neoplasm (AHN) is identified. Most AHN are myeloid neoplasms, whereas lymphoid neoplasms are uncommon. We report on a 70-year-old female patient with bone marrow mastocytosis (BMM) associated with primary cutaneous follicle center lymphoma (PCFCL). Initially, the patient had developed BMM at the age of 61 years. Since then, she suffered from recurrent anaphylaxis and vitiligo. A BM investigation revealed several compact aggregates of MC exhibiting CD25 and the KIT mutation D816V. The basal serum tryptase level ranged between 26.0 and 30.9 ng/ml. Nine years after the initial diagnosis of BMM, the patient developed cutaneous nodular reddish lesions on her scalp. Histologic examination excluded mastocytosis and revealed PCFCL. Radiation therapy resulted in regression of cutaneous lesions. This unusual case demonstrates that patients with BMM may develop a lymphoid neoplasm in extramedullary sites, including skin. However, both neoplasms were separable from each other by site and pathology, which would argue for two separate etiologies and against a classical AHN.
在一部分系统性肥大细胞增多症（SM）患者中，可识别出一种相关的血液系统肿瘤（AHN）。大多数AHN是髓系肿瘤，而淋巴系肿瘤并不常见。我们报告了一名70岁女性患者，患有与原发性皮肤滤泡中心淋巴瘤（PCFCL）相关的骨髓肥大细胞增多症（BMM）。最初，该患者在61岁时患上了BMM。从那时起，她反复出现过敏反应和白癜风。骨髓检查发现多个紧密聚集的肥大细胞（MC），其表达CD25且存在KIT突变D816V。基础血清类胰蛋白酶水平在26.0至30.9 ng/ml之间。在BMM初次诊断9年后，患者头皮上出现了皮肤结节性红色病变。组织学检查排除了肥大细胞增多症，并确诊为PCFCL。放射治疗使皮肤病变消退。这个不寻常的病例表明，BMM患者可能在髓外部位（包括皮肤）发生淋巴系肿瘤。然而，这两种肿瘤在部位和病理上是可分离的，这支持两种独立的病因，而反对典型的AHN。
