Abstract
Rare conditions are sometimes ignored in biomedical research because of difficulties in obtaining specimens and limited interest from fund raisers. However, the study of rare diseases such as unusual cancers has again and again led to breakthroughs in our understanding of more common diseases. It is therefore unsurprising that with the development and accessibility of next-generation sequencing, much has been learnt from studying cancers that are rare and in particular those with uniform biological and clinical behavior. Herein, we describe how shotgun sequencing of cancers such as granulosa cell tumor, endometrial stromal sarcoma, epithelioid hemangioendothelioma, ameloblastoma, small-cell carcinoma of the ovary, clear-cell carcinoma of the ovary, nonepithelial ovarian tumors, chondroblastoma, and giant cell tumor of the bone has led to rapidly translatable discoveries in diagnostics and tumor taxonomies, as well as providing insights into cancer biology.
Highlights
Rare conditions are sometimes ignored in biomedical research because of difficulties in obtaining specimens and limited interest from fund raisers
It should be noted that rare tumors with homogenous clinical behavior are not always easy to study, and the examples used above are success stories that have benefitted from the relative ease of interpreting next-generation sequencing (NGS) results when the tumors are truly simple genomically
Embryonic rhabdomyosarcomas have clinical and morphologic features of forme fruste tumors but ended up revealing a complex genome with various tumorigenic mechanisms identified in different cases, unlike the more consistent drivers seen in the tumor types described above [70, 71]
Summary
4 tumors 19 tumors 8 tumor enriched samples (magnetic beads) 1 case with t(1;3)(p36;q25), snap 17 FFPE. 87–89 % (45–47) Same as discovery, 100 % (17) 20 % (145) 4 % of fusion negative sarcomas (594) 100 % (12). 49 tumors with matched normal 17 tumors with matched normal 3 unrelated individuals
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