Clonality analysis and tumor of unknown primary: Applications in modern oncology and surgical pathology

Liang Cheng, Shaobo Zhang, Federico A. Monzon, Timothy D. Jones, John N. Eble

Research output: Chapter in Book/Report/Conference proceedingChapter


Clonal expansion is the hallmark of neoplasia. Modern cancer models propose that only a minority of tumor stem cells can form new tumors. Unregulated cell growth in cancer cell results from disruption of the regulatory mechanism of stem cell self-renewal. The genetic alterations acquired are inheritable and shared by the entire population of cancer cells that are derived from the same stem cell origin. Carcinogenesis is a stepwise accumulation of gene/epigenetic aberrations in the genome of susceptible stem cells, and the transformed cancer stem cells subsequently expand into more differentiated tumor populations. The clonality of a tumor could be confirmed by concordant X chromosome inactivation, similar pattern of loss of heterozygosity across multiple microsatellite loci, and identical genomic mutation from separate tumor or identical chromosomal alterations. The clonality could be used to define the monoclonal nature of a lesion, define clonal relationship of separate tumors, define the clonal relationship of tumor components in a same tumor, define the clonal relationship between precursors and cancer, or define the clonal relationships between primary and metastatic tumors. The clonality analysis could also be used to identify the tissue contamination, donor origin of a tumor found in transplant recipient, and empower bone marrow engrafting test. Molecular diagnosis of hydatidiform mole and cancer of unknown primary origin is also extensively discussed.

Original languageEnglish (US)
Title of host publicationMolecular Genetic Pathology
Subtitle of host publicationSecond Edition
PublisherSpringer New York
Number of pages52
ISBN (Electronic)9781461448006
ISBN (Print)1461447992, 9781461447993
StatePublished - Mar 1 2013


ASJC Scopus subject areas

  • Medicine(all)

Cite this

Cheng, L., Zhang, S., Monzon, F. A., Jones, T. D., & Eble, J. N. (2013). Clonality analysis and tumor of unknown primary: Applications in modern oncology and surgical pathology. In Molecular Genetic Pathology: Second Edition (Vol. 9781461448006, pp. 129-180). Springer New York.