WSI23-88-Case-8
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Clinical history
33 year old diagnosed with papillary thyroid carcinoma in 2012. Lesion was a 2.0 cm in the right lobe with minimal extrathyroidal extension and two negative lymph nodes (currently would have been classified as pT1b N0a -- then pT3 N0). All was fine until July 2020 noted to have LUL lung lesion excised and RUL lung lesion excised Aug 2020. Jan 2021, noted to have two brain lesions (L frontoparietal and R occipital). Tumor noted to have CCDC149-ALK fusion. Subsequently treated with SAS (stereotactic ablative surgery -- gamma knife). Now alectinib.
Diagnosis
Kinase fusion-related thyroid carcinoma (for now, associated with classical papillary thyroid carcinoma). Alectinib targets ALK (anaplastic lymphoma kinase)
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Sequence | Case | Clinical history | Diagnosis |
---|---|---|---|
1 | WSI23-88-Case-1 WSI23-88-Case-1 | 20 year old female with floor of mouth tumor. 20 year old female with floor of mouth tumor. | Adamantinoma-like Ewing's sarcoma. (FISH is + for EWSR fusion) Adamantinoma-like Ewing's sarcoma. (FISH is + for EWSR fusion) |
2 | WSI23-88-Case-2 WSI23-88-Case-2 | 67 year old male with left maxillary sinus cancer. 67 year old male with left maxillary sinus cancer. | NUT carcinoma |
3 | WSI23-88-Case-3 WSI23-88-Case-3 | 74 year old female with chronic otitis media and middle ear mass. 74 year old female with chronic otitis media and middle ear mass. | Phosphaturic mesenchymal tumor. Phosphaturic mesenchymal tumor. |
4 | WSI23-88-Case-7 WSI23-88-Case-7 | 38 year old woman with mass adjacent to/adherent to thyroid gland. 38 year old woman with mass adjacent to/adherent to thyroid gland. | Parathyroid carcinoma (1.2 cm), with tumor infiltrating thyroid gland and suspicious for lymphovascular invasion. Parathyroid carcinoma (1.2 cm), with tumor infiltrating thyroid gland and suspicious for lymphovascular invasion. |
5 | WSI23-88-Case-5 WSI23-88-Case-5 | 70 year old female with a mass arising in the sinonasal tract. 70 year old female with a mass arising in the sinonasal tract. | SWI/SNF complex-deficient sinonasal carcinoma with SMARCB1 loss. SWI/SNF complex-deficient sinonasal carcinoma with SMARCB1 loss. |
6 | WSI23-88-Case-6 WSI23-88-Case-6 | 55 year old man with a one year of nasal congestion, epistaxis and drainage, and a large mass in the right nasal cavity 55 year old man with a one year of nasal congestion, epistaxis and drainage, and a large mass in the right nasal cavity | HPV-related multiphenotypic sinonasal carcinoma, previously called HPV-related adenoic cystic-like carcinoma HPV-related multiphenotypic sinonasal carcinoma, previously called HPV-related adenoic cystic-like carcinoma |
7 | WSI23-88-Case-4 WSI23-88-Case-4 | 82 year old male with left parotid mass. 82 year old male with left parotid mass. | Metastatic renal cell carcinoma. Metastatic renal cell carcinoma. |
8 | WSI23-88-Case-8 WSI23-88-Case-8 | 33 year old diagnosed with papillary thyroid carcinoma in 2012. Lesion was a 2.0 cm in the right lobe with minimal extrathyroidal extension and two negative lymph nodes (currently would have been classified as pT1b N0a -- then pT3 N0). All was fine until July 2020 noted to have LUL lung lesion excised and RUL lung lesion excised Aug 2020. Jan 2021, noted to have two brain lesions (L frontoparietal and R occipital). Tumor noted to have CCDC149-ALK fusion. Subsequently treated with SAS (stereotactic ablative surgery -- gamma knife). Now alectinib. 33 year old diagnosed with papillary thyroid carcinoma in 2012. Lesion was a 2.0 cm in the right lobe with minimal extrathyroidal extension and two negative lymph nodes (currently would have been classified as pT1b N0a -- then pT3 N0). All was fine until July 2020 noted to have LUL lung lesion excised and RUL lung lesion excised Aug 2020. Jan 2021, noted to have two brain lesions (L frontoparietal and R occipital). Tumor noted to have CCDC149-ALK fusion. Subsequently treated with SAS (stereotactic ablative surgery -- gamma knife). Now alectinib. | Kinase fusion-related thyroid carcinoma (for now, associated with classical papillary thyroid carcinoma). Alectinib targets ALK (anaplastic lymphoma kinase) Kinase fusion-related thyroid carcinoma (for now, associated with classical papillary thyroid carcinoma). Alectinib targets ALK (anaplastic lymphoma kinase) |
9 | WSI23-88-Case-9 WSI23-88-Case-9 | 21 year old man with presents with changes in phonation and a multifocal thyroid masses 21 year old man with presents with changes in phonation and a multifocal thyroid masses | fusion kinase-related papillary thyroid carcinoma, multifocal (up to 2.9 cm) with extrathyroidal extension and neural involvement and extensive lateral neck mets. Grossly involving recurrent laryngeal nerve and ligament of Berry (pT4a). Positive for NCOA-RET fusion; selpercatinib (RET inhibitor) pre and post-operatively fusion kinase-related papillary thyroid carcinoma, multifocal (up to 2.9 cm) with extrathyroidal extension and neural involvement and extensive lateral neck mets. Grossly involving recurrent laryngeal nerve and ligament of Berry (pT4a). Positive for NCOA-RET fusion; selpercatinib (RET inhibitor) pre and post-operatively |