Anne Madhurima, Sammartino Daniel, Chaudhary Shweta, Bhuiya Tawfiqul, Mehrotra Bhoomi
Division of Hematology-Oncology, Hofstra North Shore - LIJ School of Medicine, Lake Success, NY, USA.
Department of Medicine Hofstra North Shore - LIJ School of Medicine, Lake Success, NY, USA.
World J Oncol. 2013 Jun;4(3):169-172. doi: 10.4021/wjon676w. Epub 2013 Jul 15.
Metastatic disease to the breast accounts for less than 1% of all breast carcinoma. Here we describe an unusual case of a 34-year-old black female with history of sickle cell trait who presented to her gynecologist with bilateral palpable breast masses. Based on initial workup including pathology results from biopsies of both breast masses, she was diagnosed with bilateral breast cancer. However further radiographic imaging revealed a large right kidney mass suspicious for primary renal neoplasm along with lung and bone lesions. This prompted re-review of the initial breast pathology. Sickled erythrocytes were identified and results of an additional immunohistochemical panel revealed positive expression of PAX 8, vimentin, Oct3/4, and loss of INI1, confirming the diagnosis of metastatic renal medullary carcinoma. We discuss the importance of considering renal medullary carcinoma in the differential diagnosis when evaluating young patients with sickle cell hemoglobinopathies who present with aggressive metastatic disease.
乳腺转移性疾病占所有乳腺癌的比例不到1%。在此，我们描述了一例不寻常的病例，一名34岁有镰状细胞性状病史的黑人女性，因双侧可触及乳腺肿块就诊于妇科医生。基于包括双侧乳腺肿块活检病理结果在内的初步检查，她被诊断为双侧乳腺癌。然而，进一步的影像学检查发现右肾有一个大肿块，怀疑是原发性肾肿瘤，同时还有肺部和骨病变。这促使对最初的乳腺病理进行重新评估。发现了镰状红细胞，另外一组免疫组化结果显示PAX 8、波形蛋白、Oct3/4呈阳性表达，INI1缺失，从而确诊为转移性肾髓质癌。我们讨论了在评估患有镰状细胞血红蛋白病且出现侵袭性转移性疾病的年轻患者时，在鉴别诊断中考虑肾髓质癌的重要性。
