伴 CBFB-MYH11 融合（inv(16) 或 t(16;16)）的骨髓肉瘤（骨髓肉瘤）多见于腹部。

Myeloid Sarcoma With CBFB-MYH11 Fusion (inv(16) or t(16;16)) Prevails in the Abdomen.

机构信息

Department of Laboratory Medicine and Pathology, Divisions of Hematopathology, Rochester, MN.

Laboratory Genetics and Genomics, Mayo Clinic, Rochester, MN.

出版信息

Am J Clin Pathol. 2020 Feb 8;153(3):333-341. doi: 10.1093/ajcp/aqz168.

DOI:10.1093/ajcp/aqz168

PMID:31671434

Abstract

OBJECTIVES

Myeloid sarcoma with CBFB-MYH11 fusion may be enriched in abdominal sites. The clinicopathologic features of 11 cases are reported.

METHODS

We collected clinical features, morphology, immunophenotype, and bone marrow (BM) involvement of myeloid sarcoma cases with CBFB-MYH11 fusion.

RESULTS

Eleven of 29 total myeloid sarcoma cases were CBFB-MYH11 positive and all 11 involved abdominal sites. The blastic infiltrate was associated with eosinophils in four of 11 cases and plasmacytoid dendritic cell (pDC) nodules in four of six cases. CD34, CD117, and myeloperoxidase were expressed in eight of nine, 10 of 10, and 10 of 10 cases, respectively. Ten of 10 cases showed no BM involvement.

CONCLUSIONS

Our current series, combined with a literature review, identifies a compelling series of 31 (94%) of 33 cases of myeloid sarcoma with CBFB-MYH11 fusion showing a marked predilection for abdominal sites. In addition, the lack of obvious associated eosinophils, presence of pDC nodules, and lack of concurrent BM involvement suggest that "myeloid sarcoma with CBFB-MYH11 fusion" may represent a unique phenomenon.

摘要

目的

具有 CBFB-MYH11 融合的髓样肉瘤可能在腹部部位丰富。报道了 11 例病例的临床病理特征。

方法

我们收集了具有 CBFB-MYH11 融合的髓样肉瘤病例的临床特征、形态学、免疫表型和骨髓（BM）受累情况。

结果

29 例髓样肉瘤中，有 11 例为 CBFB-MYH11 阳性，且均累及腹部部位。在 11 例中有 4 例存在伴嗜酸性粒细胞的原始细胞浸润，在 6 例中有 4 例存在浆细胞样树突细胞（pDC）结节。在 9 例中有 8 例表达 CD34、CD117 和髓过氧化物酶，在 10 例中有 10 例表达，在 10 例中有 10 例表达。10 例均无 BM 受累。