Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0032285 (pneumonia)
 54,520 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Cardiofaciocutaneous (CFC) syndrome is a multiple congenital anomaly/mental retardation syndrome characterized by a distinctive facial appearance, ectodermal abnormalities, and heart defects. Clinically, it overlaps with both Noonan syndrome and Costello syndrome. Mutations in KRAS, BRAF, and MAP2K1/2 (MEK1/2) have been identified in patients with CFC syndrome. BRAF mutations are involved in more than 80% of CFC syndrome patients, and we have reported earlier that 2 CFC patients with BRAF mutations developed acute lymphoblastic leukemia. Here we report a boy with CFC syndrome who developed non-Hodgkin lymphoma. At 2 months of age, he developed pneumonia with pleurisy and was diagnosed as having non-Hodgkin lymphoma (precursor T-cell lymphoblastic lymphoma) by cytopathologic examination of the pleural fluid. He was suspected of having Noonan syndrome because of his facial appearance, webbed neck, and cubitus valgus. Precursor T-cell lymphoblastic lymphoma was treated by the TCCSG NHL 94-04 protocol. At 9 years of age, he was clinically reevaluated and diagnosed as having CFC syndrome because of his distinctive facial appearance, multiple nevi, and moderate mental retardation. Sequencing analysis showed a germline p.A246P (c.736G>C) mutation in BRAF reported earlier in CFC syndrome. Molecular diagnosis and careful observation should be considered in children with CFC syndrome.
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PMID:Non-hodgkin lymphoma in a patient with cardiofaciocutaneous syndrome. 2052 44

The aim of this study is to prospectively evaluate the efficacy of combination chemotherapy with every second week cetuximab and irinotecan in patients with pretreated metastatic colorectal cancer harboring wild-type KRAS. Patients with wild-type KRAS metastatic colorectal cancer that had progressed after chemotherapy with irinotecan, oxaliplatin, and fluoropyrimidine were included. Cetuximab was administered at 500 mg/m(2) biweekly with irinotecan. The primary endpoint was response rate. The pharmacokinetics of cetuximab was also evaluated in 5 patients. From May 2009 to February 2010, a total of 31 patients were enrolled from five institutions. One patient was not eligible. Among the 30 patients who were treated with biweekly cetuximab plus irinotecan, partial response was observed in 9 patients. The objective response rate was 30.0% (95% confidence interval [CI], 14.7%-49.4%) and the disease control rate (complete response, partial response, or stable disease) was 76.7% (95% CI, 57.7%-90.0%). The median progression-free survival was 5.3 months and median overall survival was 10.8 months. Grade 3 skin toxicity was observed in 3 patients (10.0%) and one treatment related death due to pneumonia was observed. Combination chemotherapy with biweekly cetuximab and irinotecan was effective for pretreated metastatic colorectal cancer with wild-type KRAS.
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PMID:Phase II study of combination chemotherapy with biweekly cetuximab and irinotecan for wild-type KRAS metastatic colorectal cancer refractory to irinotecan, oxaliplatin, and fluoropyrimidines. 2117 25

Pulmonary sarcomatoid carcinoma (PSC) is a rare subtype of poorly differentiated non-small-cell lung cancer (NSCLC), and no effective treatment is available in clinical practice currently. In the present report, a 61-year-old male patient was hospitalized due to cough, dyspnea, and right chest pain. Computed tomography (CT) showed spot- and piece-shaped shadows. The patient became very weak and had breathing difficulty after preliminary anti-pneumonia treatment with cefoperazone-sulbactam. Physical examination revealed dull sound by percussion and decreased breath sounds in the right lateral lung areas by auscultation. A second CT scan revealed a large amount of pleural effusion, and the patient was diagnosed with bloody pleural effusion through pleural space puncture. Multiple nodular lesions were found in the right pleural cavity under thoracoscopy. PSC was confirmed by biopsy and histopathology in combination with immunohistochemistry (IHC). Single-photon emission CT (SPECT) scan indicated multiple bone metastases. KRAS exon 2 mutation and EML4-ALK fusion were identified in carcinoma tissue by IHC and amplification refractory mutation system (ARMS)-PCR. The patient received one cycle of first-line combination chemotherapy of cisplatin and paclitaxel liposomes. However, the patient did not respond to the platinum-based combination chemotherapy within 3 weeks and was thus administered oral crizotinib instead of chemotherapy. Unfortunately, he still had rapid disease progression and died 2 weeks after the initiation of crizotinib treatment. Collectively, our results suggest that a PSC patient with coexistent KRAS mutation and ALK rearrangement would not benefit from chemotherapy and tyrosine kinase inhibitor (TKI) treatment.
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PMID:Poor prognosis of pulmonary sarcomatoid carcinoma with KRAS mutation and ALK fusion. 3111 83

Hepatoid adenocarcinoma of the lung (HAL) is extremely rare and standardized treatment strategy for HAL has not been established. Patients with unresectable HAL have a shorter survival time ranges from 1 to 36 months. Here, we reported a 65-year-old female patient with unresectable alpha-fetoprotein-producing HAL harboring KRAS-G12V and no other targetable driver mutations. The patient was treated with multiple lines of chemotherapies followed by PD-1 inhibitor, sintilimab, due to positive staining of PD-L1, and achieved an overall survival of 52 months. Although the disease was under control, the patient experienced fifth-grade pneumonia and died after 6 months of anti-PD-1 treatment. This is the first case of KRAS-positive HAL patient achieved stable disease by PD-1 inhibitor, which may provide valuable information for the treatment strategy development of advanced HAL patients, and highlights the importance of molecular diagnosis in treatment decision-making.
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PMID:Anti-PD-1 Therapy Achieved Disease Control After Multiline Chemotherapy in Unresectable KRAS-Positive Hepatoid Lung Adenocarcinoma: A Case Report and Literature Review. 3254 68