The potential value of comparative genomic hybridization analysis in effusion-and fine needle aspiration cytology

Our plain-English summary of The potential value of comparative genomic hybridization analysis in effusion-and fine needle aspiration cytology, by H. Nagel, H.J. Schulten, B. Gunawan, et al (Modern Pathology, 2002).

The study

• Authors: H. Nagel, H.J. Schulten, B. Gunawan, U. Brinck, L. Füzesi
• Journal: Modern Pathology
• Published: 2002;15(8):818-25
• Cited by: 23 articles, as counted by NIH iCite
• Read it: PubMed · Publisher

Abstract

Comparative genomic hybridization (CGH) is a molecular cytogenetic technique that provides an overview on chromosomal imbalances within the whole tumor cell genome. This method has yet not been applied in effusion cytology. We performed CGH analysis in malignant effusions, fine needle aspirates, and imprint smears from eight ovarian adenocarcinomas, three breast carcinomas, one colon adenocarcinoma, and three malignant mesotheliomas. In part, CGH analysis from fresh frozen tissue and classic karyotyping served as controls. In this series, 14/15 cytologic specimens were suitable for extraction of high molecular weight DNA sufficient for reliable CGH analysis. CGH profiles from cytologic material were equal or even more significant in comparison with corresponding fresh frozen tumor samples. We conclude that CGH analysis from cytologic specimens may support the primary cytologic diagnosis of malignancy, especially in the differential diagnosis of benign proliferating mesothelium, malignant mesothelioma, and metastatic adenocarcinoma. CGH analysis of metastatic lesions may provide information on the site of the primary tumors and detects cytogenetic imbalances affecting oncogenes and tumor suppressor genes involved in tumor progression and metastatic spread.

In plain English

This laboratory study from Göttingen, Germany, tested whether comparative genomic hybridization (CGH), a method that scans tumor cells for gained or lost chromosome material, works on ordinary cytology samples. The samples were fluid from the abdomen or chest, needle aspirates and imprint smears from 15 patients. The patients had ovarian, breast or colon cancers, or one of three malignant mesotheliomas, all confirmed by histology. The study did not examine asbestos or any other exposure. CGH worked on 14 of the 15 samples. It failed in one mesothelioma case, though standard chromosome testing of that case showed loss of chromosomes 14 and 22. Of the other two mesotheliomas, one showed loss of 6q and the other showed gains at 1p36, 16p, 17 and 19. In three carcinomas, results from the cytology samples were as clear as, or clearer than, results from frozen tumor tissue. The authors noted that CGH cannot detect balanced chromosome changes. The authors concluded that CGH on cytology samples may help confirm malignancy, especially when telling benign mesothelial growth apart from malignant mesothelioma and metastatic adenocarcinoma.

We wrote this plain-English summary from the full article with the help of AI, and a second AI model checked each sentence against the article. It is not the authors' wording; the abstract and the article are their own account.

What the study did and found

• Design: Laboratory methods study (small case series) testing CGH on cytologic specimens, with fresh frozen tissue and classic karyotyping as partial controls
• Who was studied: Cytologic specimens from 15 patients at Georg-August-University, Göttingen, Germany: 11 malignant serous effusions, 2 fine needle aspirates and 2 imprint smears. The tumors were 8 ovarian adenocarcinomas, 3 breast carcinomas, 1 colon adenocarcinoma and 3 malignant mesotheliomas (two from pleural effusions and one biphasic mesothelioma of the peritoneum, from ascites). Study dates are not given.
• Exposure: Not studied. The article reports no asbestos or other occupational or environmental exposure.
• Main results:
  • CGH results were obtained in 14 of 15 cases. It failed in Case 15 (biphasic malignant mesothelioma) because of insufficient labeling during nick translation.
  • Across the 14 analyzed specimens, chromosomal gains were more frequent than losses: a mean of 8.8 gains per tumor versus 5 losses per tumor.
  • In the 8 ovarian carcinomas there was an average of 19.6 genetic changes (range 8 to 35). The most frequent gains were on 8 (100%), 20 (88%) and 3 (63%). The most frequent losses were on 4q (75%), 18q (63%) and 9q (50%).
  • The epithelial-type malignant mesothelioma (Case 13) showed loss of 6q, with loss of 22q seen only as a trend.
  • The biphasic malignant mesothelioma Case 14 showed gains at 1p36, 16p, 17 and 19.
  • In the biphasic malignant mesothelioma Case 15, conventional karyotyping showed loss of chromosomes 14 and 22. CGH comparison was not possible for this case.
  • In three carcinomas (Nos. 4, 9 and 11), CGH from cytologic material showed equal or more significant ratio profiles than CGH from the corresponding fresh frozen tumor tissue.
  • In one ovarian carcinoma (Case 6), CGH results only partly matched the karyotype obtained by cell culture.
• The authors' conclusion: The authors concluded that CGH analysis in cytology may help confirm a diagnosis of malignancy, especially in distinguishing benign mesothelial proliferation, malignant mesothelioma and metastatic adenocarcinoma in serous effusions.
• Limitations the authors state:
  • CGH cannot detect balanced structural aberrations (such as inversions or reciprocal translocations), imbalances affecting only small regions, or single mutations. Its sensitivity is reduced in polyploid tumors.
  • Direct comparison of CGH with karyotyping was possible in only one case, and even there it was problematic because of the complex karyotype.

Topics

Medical terms in this study, explained in our Lexicon: Cytology, Aspirate, Adenocarcinoma, Carcinoma, Malignant Mesothelioma, Differential Diagnosis, Mesothelium, Tumor Suppressor Gene.

Related studies

• Severe chromosomal aberrations in pleural mesotheliomas with unusual mesodermal features. Comparative genomic hybridization evidence for a mesothelioma subgroup — M. Krismann, K.M. Müller, et al. (2000)
• Common Fluorescence In Situ Hybridization Applications in Cytology — S. Savic, L. Bubendorf (2016)
• Thoracic splenosis diagnosed by fine-needle aspiration cytology: a case report — S. Syed, P. Zaharopoulos (2001)
• Fine-needle aspiration cytology of multicystic mesothelioma — K. Devaney, P.J. Kragel, et al. (1992)
• Rounded atelectasis: diagnosis by fine-needle aspiration cytology — W.T. Miller, P.K. Gupta, et al. (1992)
• Familial pleural mesothelioma with environmental asbestos exposure: losses of DNA sequences by comparative genomic hybridization (CGH) — G. Serio, A. Scattone, et al. (2004)

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