Horny H-P, Sotlar K, Sperr W R, Valent P
Institute of Pathology, University of Lübeck, D-23538 Lübeck, Germany.
J Clin Pathol. 2004 Jun;57(6):604-8. doi: 10.1136/jcp.2003.014860.
Although systemic mastocytosis (SM) with an associated clonal haematological non-mast cell lineage disease (SM-AHNMD) is a major subtype of SM, little is known about its frequency among myelogenous neoplasms, and mastocytosis in particular, or about AHNMD subtype frequencies.
Approximately 19500 routine bone marrow biopsies were evaluated. Immunostaining with antibodies against tryptase, KIT, and CD25 and molecular analysis for detection of C-KIT point mutations were performed in approximately 550/4100 myelogenous malignancies including mastocytosis, almost all subtypes of myelodysplastic syndrome (MDS), myelodysplastic/myeloproliferative syndrome (MDS/MPD), MPD, and acute myeloid leukaemia (AML).
SM was rare-it was diagnosed in only 64 bone marrows (0.3%) and made up 1.5% of myelogenous tumours. SM-AHNMD was the second most frequent subtype (20). SM-AHNMD was never included in the clinical differential diagnoses and was confirmed histologically in most cases only after appropriate immunostaining. The abnormal mast cell phenotype was confirmed by immunohistochemical demonstration of tryptase and CD25 coexpression. The following associated haematological neoplasms were found: MDS/MPS, AML, MPS, MDS, plasma cell myeloma, and unclassifiable myelogenous malignancy. C-KIT point mutations were detected in 16 of 20 cases.
SM-AHNMD can be diagnosed histologically in bone marrow trephines only after immunostaining with antibodies against tryptase, KIT, and CD25. Eighteen of 20 AHNMDs were of myeloid origin. C-KIT point mutations were present in 16 of 20 cases. The prognostic relevance of detecting SM associated with another haematological neoplasm remains unclear, but mast cell resistance to most cytoreductive agents is of major importance for treatment planning.
尽管伴有相关克隆性血液非肥大细胞谱系疾病的系统性肥大细胞增多症（SM-AHNMD）是系统性肥大细胞增多症（SM）的一种主要亚型，但对于其在髓系肿瘤（尤其是肥大细胞增多症）中的发生率，以及AHNMD亚型的发生率知之甚少。
对约19500例常规骨髓活检进行了评估。对约550/4100例髓系恶性肿瘤（包括肥大细胞增多症、几乎所有亚型的骨髓增生异常综合征（MDS）、骨髓增生异常/骨髓增殖性综合征（MDS/MPD）、骨髓增殖性疾病（MPD）和急性髓系白血病（AML））进行了抗类胰蛋白酶、KIT和CD25抗体的免疫染色以及检测C-KIT点突变的分子分析。
SM很罕见，仅在64例骨髓中被诊断出来（0.3%），占髓系肿瘤的1.5%。SM-AHNMD是第二常见的亚型（20例）。SM-AHNMD从未被纳入临床鉴别诊断，且大多数情况下仅在进行适当的免疫染色后才通过组织学确诊。通过免疫组化证明类胰蛋白酶和CD25共表达证实了异常肥大细胞表型。发现了以下相关血液肿瘤：MDS/MPS、AML、MPS、MDS、浆细胞骨髓瘤和无法分类的髓系恶性肿瘤。20例中有16例检测到C-KIT点突变。
只有在用抗类胰蛋白酶、KIT和CD25抗体进行免疫染色后，才能在骨髓切片中通过组织学诊断SM-AHNMD。20例AHNMD中有18例起源于髓系。20例中有16例存在C-KIT点突变。检测与另一种血液肿瘤相关的SM的预后相关性仍不清楚，但肥大细胞对大多数细胞减灭剂的耐药性对于治疗规划至关重要。
