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微卫星基因分型用于区分体细胞β-人绒毛膜促性腺激素分泌癌与上皮样滋养细胞肿瘤。

Microsatellite Genotyping to Distinguish Somatic β-HCG Secreting Carcinoma from Epithelioid Trophoblastic Tumor.

作者信息

Brett Mary Anne, Sur Monalisa, Daya Dean, Terry Jefferson, Lytwyn Alice

机构信息

Department of Pathology and Molecular Medicine, McMaster University, 1280 Main Street West, Room No. HSC-1N16, Hamilton, ON, Canada L8S 4L8.

出版信息

Case Rep Pathol. 2015;2015:971970. doi: 10.1155/2015/971970. Epub 2015 Apr 15.

Abstract

Objective. Morphologically, β-HCG secreting somatic carcinoma can be difficult to distinguish from epithelioid trophoblastic tumors (ETT). However, their distinction is critical due to their potentially differing prognoses and choice of chemotherapy. Presence of biparental alleles in ETT can be identified with molecular testing. We describe a patient who presented with metastatic carcinoma and elevated serum β-HCG and contrast this to an ETT in another patient. Data and Results. A 32-year-old female with recent possible miscarriage presented with pulmonary emboli and was found to have an increased serum β-HCG, a retroduodenal mass, and multiple nodules in her lungs, liver, and para-aortic lymph nodes. Biopsy showed a β-HCG and p63 positive epithelioid neoplasm with otherwise noncontributory immunohistochemistry. Molecular testing for biparental alleles in repeated length polymorphisms was negative, consistent with somatic origin. The second patient was a 35-year-old pregnant female with increased serum β-HCG and a uterine epithelioid tumor positive for β-HCG. Clinical and pathologic findings were characteristic of ETT and molecular testing was not required. These 2 cases illustrate that β-HCG secreting tumors of different etiologies may have similar appearances, and when clinical and/or IHC findings are inconclusive, molecular testing may be useful.

摘要

目的。在形态学上,分泌β-HCG的体细胞癌可能难以与上皮样滋养细胞肿瘤(ETT)相区分。然而,由于它们潜在的不同预后和化疗选择,区分它们至关重要。ETT中双亲等位基因的存在可通过分子检测来确定。我们描述了一名表现为转移性癌且血清β-HCG升高的患者,并将其与另一名患者的ETT进行对比。

数据与结果。一名32岁近期可能流产的女性出现肺栓塞,发现血清β-HCG升高,十二指肠后有肿块,肺部、肝脏及主动脉旁淋巴结有多个结节。活检显示为β-HCG和p63阳性的上皮样肿瘤,其他免疫组化结果无诊断意义。重复长度多态性中双亲等位基因的分子检测为阴性,符合体细胞起源。第二名患者是一名35岁的孕妇,血清β-HCG升高,子宫上皮样肿瘤β-HCG阳性。临床和病理表现符合ETT,无需进行分子检测。这2例病例表明,不同病因的分泌β-HCG的肿瘤可能有相似表现,当临床和/或免疫组化结果不明确时,分子检测可能有用。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5b4b/4413042/2d40c847d74f/CRIPA2015-971970.001.jpg

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