AI Article Synopsis
- Neurofibromatosis 1 is a common genetic disorder that leads to multiple neurofibromas and increases the risk of tumors, including breast cancer.
- A case is presented of a woman with neurofibromatosis 1, where her numerous skin neurofibromas complicated the early detection of advanced breast cancer, causing significant delays in diagnosis.
- Current screening guidelines for breast cancer are inadequate for individuals with neurofibromatosis 1, suggesting the need for more aggressive clinical and imaging strategies to achieve early detection comparable to women without the condition.
Article Abstract
Background: Neurofibromatosis 1 is one of the most common genetic diseases in humans, presenting with multiple neurofibromas and an increased risk of various benign and malignant tumors, including breast cancer.
Case Presentation: In this paper we report a case of a woman with neurofibromatosis 1 and the challenge associated with detecting an advanced breast cancer because of numerous skin neurofibromas, which were responsible for a substantial delay in cancer diagnosis. Literature concerning the association of neurofibromatosis 1 and breast cancer is reviewed and discussed.
Conclusions: Best practice guidelines for breast cancer detection are not sufficient for the screening of neurofibromatosis 1 carriers. A more intensive clinical and imaging approach should be used if the same early detection rate as in non-neurofibromatosis 1 women is to be achieved.
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Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4377189 | PMC |
| http://dx.doi.org/10.1186/s12885-015-1215-z | DOI Listing |
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