Genomic characterisation of two cancers of unknown primary cases supports a kidney cancer origin Journal Article
| Authors: | Wei, E. Y.; Chen, Y. B.; Hsieh, J. J. |
| Article Title: | Genomic characterisation of two cancers of unknown primary cases supports a kidney cancer origin |
| Abstract: | Cancer of unknown primary (CUP) comprises of 3-5% of new cancer diagnoses in the USA. Diagnostic work up typically includes CT of the chest, abdomen and pelvis, and histopathological review of tissue specimens. These measures are neither sensitive nor specific in determining tissue of origin (ToO) of primary tumours and, therefore, are unable to guide therapy. We present two cases of CUP for which we utilised ultra-deep genomic sequencing to identify the candidate ToO and to propose treatment. Patient 1 presented with metastases involving the lung, lymph nodes and bone. Patient 2 presented with an acute pathological fracture of the T7 vertebral body and metastases involving the bone, lymph nodes and soft tissue. No primary renal mass was found. Sequencing revealed SETD2 and NF2 mutations, and heterozygous loss of the short arm of chromosome 3 (3p). Mutations in conjunction with clinicopathological features strongly support a diagnosis of renal cell carcinoma. Both patients initially responded to mTORC1 inhibition therapy. |
| Keywords: | immunohistochemistry; adult; human tissue; treatment response; middle aged; cancer surgery; sequence analysis; somatic mutation; frameshift mutation; histopathology; case report; sunitinib; drug withdrawal; treatment duration; unspecified side effect; bone metastasis; gemcitabine; lymph node metastasis; genetic analysis; cancer palliative therapy; carboplatin; computer assisted tomography; kidney carcinoma; temsirolimus; oncogene; tumor suppressor gene; lung metastasis; dna; breast carcinoma; computer assisted emission tomography; epithelium cell; thyroid carcinoma; cancer of unknown primary site; axitinib; breast adenocarcinoma; drug substitution; pericardial effusion; lung biopsy; everolimus; lymph node biopsy; lymphadenopathy; treatment withdrawal; video assisted thoracoscopic surgery; nf2 gene; lung nodule; medical history; neck tumor; compression fracture; spine fracture; pbrm1 gene; setd2 gene; human; male; female; priority journal; article; arid5b gene; nsd1 gene; rfwd2 gene; rptor gene; tsc1 gene |
| Journal Title: | BMJ Case Reports |
| Volume: | 2015 |
| ISSN: | 1757-790X |
| Publisher: | BMJ Publishing Group Ltd. |
| Date Published: | 2015-10-22 |
| Language: | English |
| DOI: | 10.1136/bcr-2015-212685 |
| PROVIDER: | scopus |
| PUBMED: | 26494726 |
| PMCID: | PMC4620212 |
| DOI/URL: | |
| Notes: | Article -- Export Date: 3 February 2016 -- Source: Scopus |
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