Motzer R J, Rodriguez E, Reuter V E, Samaniego F, Dmitrovsky E, Bajorin D F, Pfister D G, Parsa N Z, Chaganti R S, Bosl G J
Department of Medicine, Memorial Hospital, New York, NY 10021.
J Natl Cancer Inst. 1991 Mar 6;83(5):341-6. doi: 10.1093/jnci/83.5.341.
The tumors of nine patients with carcinomas of uncertain histogenesis (eight with poorly differentiated carcinomas involving primarily midline structures and one with a diagnosis of seminoma and atypical clinical features) were studied by cytogenetic and Southern blot analyses. Four of the eight patients with poorly differentiated carcinomas had abnormalities of chromosome 12 consistent with a diagnosis of germ cell tumor. These abnormalities comprised an i(12p) in two patients and a del(12q) in a third patient detected by cytogenetic analysis and multiple copies of 12p detected by Southern blot analysis in a fourth patient. Three of these four patients with a diagnosis of germ cell tumor established by genetic analysis achieved a complete response to cisplatin-based chemotherapy. The tumor biopsy of one patient showed a t(11;22) (q24;q12), and this patient had chemotherapy directed to neuroepithelioma. Cytogenetic analysis was unsuccessful for the tumors of three patients; these tumors did not have multiple copies of 12p detected by Southern blot analysis. These patients did not respond to cisplatin-based chemotherapy. One patient with a diagnosis of extragonadal seminoma failed to respond to cisplatin-based chemotherapy and had a second tumor biopsy performed that demonstrated a t(8;14) (q24;q32). This patient's diagnosis was changed to a non-Hodgkin's lymphoma. Thus, genetic analysis provided a diagnosis in six of nine patients. Cytogenetic and molecular analyses are useful clinical tools for the determination of histogenesis in some patients with poorly differentiated carcinomas of uncertain histology.
对9例组织发生不确定的癌患者（8例主要累及中线结构的低分化癌患者和1例诊断为精原细胞瘤但有非典型临床特征的患者）的肿瘤进行了细胞遗传学和Southern印迹分析。8例低分化癌患者中有4例存在12号染色体异常，符合生殖细胞肿瘤的诊断。这些异常包括：2例患者检测到i(12p)，1例患者通过细胞遗传学分析检测到del(12q)，第4例患者通过Southern印迹分析检测到12p的多个拷贝。这4例经基因分析诊断为生殖细胞肿瘤的患者中有3例对基于顺铂的化疗完全缓解。1例患者的肿瘤活检显示t(11;22)(q24;q12)，该患者接受了针对神经上皮瘤的化疗。3例患者的肿瘤细胞遗传学分析未成功；这些肿瘤通过Southern印迹分析未检测到12p的多个拷贝。这些患者对基于顺铂的化疗无反应。1例诊断为性腺外精原细胞瘤的患者对基于顺铂的化疗无反应，进行了第二次肿瘤活检，显示t(8;14)(q24;q32)。该患者的诊断改为非霍奇金淋巴瘤。因此，基因分析为9例患者中的6例提供了诊断。细胞遗传学和分子分析是确定一些组织学不确定的低分化癌患者组织发生的有用临床工具。
