Robert J. Tomsich Pathology and Laboratory Medicine Institute, Cleveland Clinic, Cleveland, OH.
Marshall University Joan C. Edwards School of Medicine, Huntington.
Appl Immunohistochem Mol Morphol. 2022 Apr 1;30(4):e32-e39. doi: 10.1097/PAI.0000000000001007.
To describe the clinical, histologic, immunophenotypic, and genetic characteristics of myeloid sarcoma (MS) diagnosed in the testes of adults, 3 cases were identified, and information on their presentation, clinical features, treatment, and outcome was retrieved from the medical records. In addition, histologic, immunophenotypic, and molecular characteristics were reviewed. This showed that all patients had a previous history of acute myeloid leukemia (AML), in 2 cases diagnosed >10 years before the testicular lesions. In 1 case, there was bilateral involvement, while in 2, involvement was unilateral. The neoplastic cells showed evidence of cytogenetic/molecular clonal evolution in all cases, 1 of which also had significant immunophenotypic changes. A mutational profile including NPM1 p.Trp288Cysfs*12, IDH1 p.Arg132His NRAS p.Gly12Asp was seen in 2 of the 3 cases. Concurrent bone marrow involvement by a myeloid neoplasm was diagnosed in 2 patients, in 1, there was AML in the second 8% blasts. These patients progressed rapidly after MS and had a dismal outcome. The patient with no concurrent bone marrow disease had a favorable outcome. In conclusion, MS involving the testes of adults is a rare event, and it may represent the clonal evolution of AML.
为了描述在成人睾丸中诊断出的髓样肉瘤 (MS) 的临床、组织学、免疫表型和遗传特征，我们确定了 3 例病例，并从病历中检索了有关其表现、临床特征、治疗和结局的信息。此外，还回顾了组织学、免疫表型和分子特征。这表明所有患者均有急性髓系白血病 (AML) 的既往病史，其中 2 例在睾丸病变前 10 年以上确诊。在 1 例中，存在双侧受累，而在 2 例中，存在单侧受累。所有病例均显示出细胞遗传学/分子克隆进化的证据，其中 1 例还存在明显的免疫表型变化。在 3 例中有 2 例可见包括 NPM1 p.Trp288Cysfs*12、IDH1 p.Arg132His 和 NRAS p.Gly12Asp 在内的突变谱。在 2 例患者中诊断出同时存在骨髓髓样肿瘤受累，其中 1 例中第二次 8%blasts 为 AML。这些患者在 MS 后迅速进展，预后不良。无同时骨髓疾病的患者结局良好。总之，成人睾丸受累的 MS 是一种罕见事件，可能代表 AML 的克隆进化。
