Oral Diagnosis Department, Semiology and Oral Pathology Areas, Piracicaba Dental School, University of Campinas (UNICAMP), Av. Limeira, 901, Areão, Piracicaba, São Paulo, 13414-903, Brazil.
Oral Pathology, School of Dentistry, National University of Asunción, Asunción, Paraguay.
Head Neck Pathol. 2023 Jun;17(2):546-561. doi: 10.1007/s12105-022-01507-9. Epub 2022 Nov 14.
Rhabdomyosarcoma (RMS) harboring EWSR1/FUS-TFCP2 fusions has been recently described as a distinct form of RMS with an aggressive course and predilection for the craniofacial bones, especially the jaws.
We report three new cases of this rare entity, two from Brazil and one from Guatemala, with detailed clinicopathologic, immunohistochemical, and molecular descriptions. Additionally, we explored the English-language literature searching RMS with TFCP2 rearrangement or typical immunophenotype with co-expression of AE1/AE3 and ALK in the head and neck region.
Case 1 is a 58-year-old male with a 3-month history of painful swelling in the anterior maxilla. Case 2 is a 22-year-old male presenting with right facial swelling and proptosis. Case 3 is a 43-year-old female with a rapidly growing tumor located in the zygomatic region. Imaging examinations revealed highly destructive intraosseous masses in the first two cases, and a soft tissue tumor with bone invasion in case 3. Microscopically, all cases showed a hybrid spindle and epithelioid phenotype of tumor cells which expressed desmin, myogenin and/or Myo-D1, AE1/AE3, and ALK. FISH confirmed molecular alterations related to TFCP2 rearrangement in Cases 1-2. In case 3, there was no available material for molecular analysis. The patients were subsequently referred to oncologic treatment. Additionally, we summarized the clinicopathologic, immunohistochemical, and molecular features of 27 cases of this rare RMS variant in the head and neck region reported in the English-language literature.
RMS with TFCP2 rearrangement is a rare and aggressive tumor with a particular predilection for craniofacial bones, especially the jaws. Knowing its clinicopathologic and immunohistochemical profile can avoid misdiagnosis.
最近描述了一种具有 EWSR1/FUS-TFCP2 融合的横纹肌肉瘤（RMS），它是一种具有侵袭性病程和偏爱颅面骨，特别是颌骨的 RMS 独特形式。
我们报告了三个这种罕见实体的新病例，两个来自巴西，一个来自危地马拉，详细的临床病理、免疫组织化学和分子描述。此外，我们还探索了英文文献中 RMS 与 TFCP2 重排或典型免疫表型的关系，这些病例在头颈部区域共表达 AE1/AE3 和 ALK。
病例 1 是一名 58 岁男性，有 3 个月的前上颌疼痛性肿胀史。病例 2 是一名 22 岁男性，表现为右面部肿胀和眼球突出。病例 3 是一名 43 岁女性，有一个位于颧骨区域的快速生长的肿瘤。影像学检查显示前两个病例为高度破坏性的骨内肿块，而病例 3 为软组织肿瘤伴骨侵犯。显微镜下，所有病例均显示肿瘤细胞具有混合的梭形和上皮样表型，这些细胞表达 desmin、myogenin 和/或 Myo-D1、AE1/AE3 和 ALK。FISH 证实了病例 1-2 中与 TFCP2 重排相关的分子改变。在病例 3 中，没有可供分子分析的材料。随后，这些患者被转介接受肿瘤治疗。此外，我们总结了英文文献中报道的 27 例罕见头颈部 RMS 变体的临床病理、免疫组织化学和分子特征。
具有 TFCP2 重排的 RMS 是一种罕见且具有侵袭性的肿瘤，特别偏爱颅面骨，特别是颌骨。了解其临床病理和免疫组织化学特征可以避免误诊。
