Abstract
Ductal carcinoma in situ (DCIS) of the breast consists of a group of heterogeneous and pre-invasive proliferation of neoplastic epithelial cells with the ductal phenotype. DCIS is one of the most frequently diagnosed pathologic entities of the breast, comprising approximately 25 % of all newly discovered breast carcinoma cases. The incidence of DCIS in United States has increased from 1.87 per 100,000 in 1973–1975 to 32.5 in 2004, reflecting in part the success of the widely adopted mammographic screening programs. With increased detection of DCIS, however, questions regarding appropriate risk assessment and therapeutic interventions have been raised, as only limited information on the natural biologic progression of untreated tumors exists. Few long-term follow-up studies available on untreated low-grade DCIS show the risk of developing invasive breast carcinoma ranges from 14 to 60 % after 10 years. Similar studies on high-grade (HG) DCIS are virtually nonexistent as most were excised at time of diagnosis, but it is reasonable to extrapolate that untreated HG-DCIS will be associated with even higher risks of invasive disease. Considering DCIS generally has an excellent prognosis after lumpectomy or mastectomy with 10-year breast cancer mortality rate at <2 %, the rationale for continuing the current standard of treatment certainly holds water. However, these statistics also demonstrate that not all DCIS invariably progress to invasive disease and as of yet, our current systems of risk stratification are inadequate in identifying those that may benefit from less or more aggressive forms of intervention. Concerns about unnecessary anxiety experienced by the patients and possible over-treatment of DCIS have precipitated a search for improved diagnostic and prognostic parameters, and has even led to proposals for reclassification of these tumors with less ominous terminology such as “intraepithelial neoplasia.” Recent developments in our understanding of the pathogenesis of invasive breast carcinoma has led to newly defined molecular subtypes with varying prognoses and has opened the door to more targeted therapies. Although the literature on DCIS is not as extensive, emerging data suggests a similar molecular classification system may be applicable to the in situ lesions as well. In this chapter, we review the current understanding of DCIS with emphasis on its molecular pathogenesis.
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Gong, Y., Kandil, D., Khan, A. (2015). Molecular Pathology of Pre-Invasive Ductal Carcinoma. In: Khan, A., Ellis, I., Hanby, A., Cosar, E., Rakha, E., Kandil, D. (eds) Precision Molecular Pathology of Breast Cancer. Molecular Pathology Library, vol 10. Springer, New York, NY. https://doi.org/10.1007/978-1-4939-2886-6_6
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DOI: https://doi.org/10.1007/978-1-4939-2886-6_6
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