Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0011168 (dysphagia)
 15,644 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Paraneoplastic cerebellar degeneration (PCD) is a rare anti-Yo mediated paraneoplastic syndromes rarely that is infrequently associated with breast cancer. We present a case of a 52-year-old female presenting with diplopia, gait instability, dysarthria, dysphagia, nystagmus, and, most notably, new onset paroxysmal episodes of uncontrollable crying concerning for pseudobulbar affect (PBA). Serologic testing showed anti-Yo antibodies. The patient was found to have stage IIIA breast cancer as the inciting cause of the paraneoplastic syndrome. The patient was treated with neoadjuvant chemotherapy, modified radical mastectomy, adjuvant Herceptin, and pertuzumab. She was given IVIG for paraneoplastic syndrome, antidepressants, and dextromethorphan-quinidine (Nuedexta), the first FDA-approved therapy for PBA. With multimodality therapy, she demonstrated significant improvement in neurologic and mood symptoms associated with PCD and PBA.
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PMID:Anti-Yo Mediated Paraneoplastic Cerebellar Degeneration Associated with Pseudobulbar Affect in a Patient with Breast Cancer. 2837 27

Salivary duct carcinoma (SDC) is an aggressive malignancy, resembling high-grade ductal carcinoma of the breast. Histologically, it shows cords and nests with cribriforming, marked nuclear atypia, comedonecrosis, perineural, and lymphovascular invasion. We report a rare case of SDC in a 61-year-old woman presenting with facial asymmetry, dysphagia, and cervical lymphadenopathy. Imaging showed an ill-defined infiltrating mass in parotid gland and multiple enlarged cervical lymph nodes. Histologically, the largest focus of tumor consisted of an intra-parotid lymph node replaced by sheets of bland appearing oncocytic tumor cells with abundant cytoplasm, centrally placed nucleus, and single prominent nucleolus. No mitotic figures were identified and focal areas showed nests with comedonecrosis and desmoplastic stromal response. Tumor showed strong positive staining for androgen receptor, CK7 and GATA-3. In addition, tumor stained strong positive for Her2neu making the patient amenable to Herceptin. NGS detected mutation in HRAS (p.Q61R) and a novel, not previously reported mutation in PIK3CA, (exon 21, p.H1047L). This case represents a rare presentation of SDC with bland cellular morphology unlike the usual associated high grade features. In addition, it reemphasizes the importance of androgen receptor in differential diagnosis from its mimics like oncocytic carcinoma and oncocytic variant of mucoepidermoid carcinoma. Further, Her2neu immunohistochemical status can be used for diagnosis as well as guide targeted therapy in these aggressive tumors.
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PMID:Salivary duct carcinoma: A case report of oncocytic variant with possible treatment implications and review of literature. 3149 7