Single nucleotide polymorphism (SNP) chromosomal microarray as a diagnostic tool for mucinous tubular and spindle cell carcinoma: A validation study

IF 2.7 2区医学 Q2 PATHOLOGY

Human pathology Pub Date : 2024-04-01 DOI:10.1016/j.humpath.2024.04.003

Kaitlyn J. Nielson , Ross Rowsey , Surendra Dasari , William R. Sukov , Benjamin R. Kipp , Aditya Raghunathan , Rumeal D. Whaley , Kingsley Ebare , Melissa L. Stanton , Jordan P. Reynolds , Vidit Sharma , R. Houston Thompson , Stephen A. Boorjian , Bradley C. Leibovich , Loren Herrera Hernandez , Rafael E. Jimenez , John C. Cheville , Sounak Gupta

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引用次数: 0

Abstract

Mucinous tubular and spindle cell carcinoma (MTSCC) shows significant overlap with papillary renal cell carcinoma (PRCC), and harbor recurrent copy-number alterations (CNA).

We evaluated 16 RCC with features suggestive of MTSCC using chromosomal microarrays.

The cohort was comprised of 8 females and males, each, with an age range of 33–79 years (median, 59), and a tumor size range of 3.4–15.5 cm (median, 5.0). Half the tumors were high-grade (8/16, 50%) with features such as necrosis, marked cytologic atypia, and sarcomatoid differentiation, and 5/16 (31%) were high stage (≥pT3a). Three (of 16, 19%) cases had a predominant (>95%) spindle cell component, whereas 5/16 (31%) were composed of a predominant (>95%) epithelial component. Most cases (12/16, 75%) exhibited a myxoid background and/or extravasated mucin, at least focally.

Twelve (of 16, 75%) cases demonstrated CNA diagnostic of MTSCC (losses of chromosomes 1, 4, 6, 8, 9, 13, 14, 15, and 22). In addition, 2 high-grade tumors showed loss of CDKN2A/B, and gain of 1q, respectively, both of which are associated with aggressive behavior. Three (of 16, 19%) cases, demonstrated nonspecific CNA, and did not meet diagnostic criteria for established RCC subtypes. One (of 16, 6%) low-grade epithelial predominant tumor (biopsy) demonstrated characteristic gains of 7, 17, and loss of Y, diagnostic of PRCC.

MTSCC can be a morphologically heterogenous tumor. Our study validates the detection of characteristic chromosomal CNA for diagnostic use that may be useful in challenging cases with unusual spindle cell or epithelial predominant features, as well as in high-grade tumors.

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单核苷酸多态性 (SNP) 染色体芯片作为粘液性管状细胞癌和纺锤形细胞癌的诊断工具：一项验证研究

粘液性肾小管和纺锤形细胞癌（MTSCC）与乳头状肾细胞癌（PRCC）有明显的重叠，并存在复发性拷贝数改变（CNA）。我们使用染色体微阵列评估了16例具有MTSCC特征的RCC。这组患者中，女性和男性各8例，年龄范围为33-79岁（中位59岁），肿瘤大小范围为3.4-15.5厘米（中位5.0厘米）。半数肿瘤为高级别（8/16，50%），具有坏死、明显细胞学不典型性和肉瘤样分化等特征，5/16（31%）为高级别（≥pT3a）。3个病例（共16个，占19%）的主要成分是纺锤形细胞（95%），而5/16（31%）的主要成分是上皮细胞（95%）。大多数病例（12/16，75%）至少在局部表现出肌瘤样背景和/或外渗粘蛋白。12 个病例（16 个，75%）表现出诊断为 MTSCC 的 CNA（1、4、6、8、9、13、14、15 和 22 号染色体缺失）。此外，2 个高级别肿瘤分别显示 CDKN2A/B 缺失和 1q 增益，这两种情况都与侵袭性行为有关。3例（共16例，占19%）表现为非特异性CNA，不符合已确定的RCC亚型诊断标准。1例（共16例，占6%）低级别上皮为主的肿瘤（活检）表现出特征性的7、17增益和Y缺失，可诊断为PRC。我们的研究验证了检测特征性染色体CNA的诊断用途，这可能对具有不寻常纺锤形细胞或上皮为主特征的疑难病例以及高级别肿瘤有用。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Human pathology 医学-病理学

CiteScore

5.30

自引率

6.10%

发文量

206

审稿时长

21 days

期刊介绍： Human Pathology is designed to bring information of clinicopathologic significance to human disease to the laboratory and clinical physician. It presents information drawn from morphologic and clinical laboratory studies with direct relevance to the understanding of human diseases. Papers published concern morphologic and clinicopathologic observations, reviews of diseases, analyses of problems in pathology, significant collections of case material and advances in concepts or techniques of value in the analysis and diagnosis of disease. Theoretical and experimental pathology and molecular biology pertinent to human disease are included. This critical journal is well illustrated with exceptional reproductions of photomicrographs and microscopic anatomy.