Breast metastasis from EGFR-mutated lung adenocarcinoma: A case report and review of the literature.
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ABSTRACT:
SUBMITTER: Ota T
PROVIDER: S-EPMC6098998 | biostudies-literature |
REPOSITORIES: biostudies-literature
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Project description:EGFR mutation has been detected in more than half of non-small cell lung cancer (NSCLC) patients in Asia. Lung cancer is the main cause of malignant tumor-related death worldwide. Although distant metastases often occurs in patients with advanced NSCLC, uterine cervical metastasis is rare. Here, we report a case of EGFR-mutated lung adenocarcinoma with cervical metastasis. A 63-year-old female with known lung adenocarcinoma was found to have abnormal vaginal bleeding during osimertinib follow-up visits. Immunohistochemical (IHC) staining and next-generation sequencing (NGS) of the biopsy sample from the uterine cervical tumor confirmed metastatic dissemination from the primary lung malignancy. NGS assisted the diagnosis of uterine cervical metastasis from the primary lung. This is another major clinical application of NGS in addition to medication guidance and identification of drug resistance mechanisms.
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Project description:Bullous pemphigoid (BP) is a rare, life-threatening autoimmune blistering disease with pruritus and tension blisters/bullous as the main clinical manifestations. Glucocorticosteroids are the main therapeutic agents for it, but their efficacy is poor in some patients. Tofacitinib, a small molecule agent that inhibits JAK1/3, has shown incredible efficacy in a wide range of autoimmune diseases and maybe a new valuable treatment option for refractory BP. To report a case of refractory BP successfully treated with tofacitinib, then explore the underlying mechanism behind the treatment, and finally review similarities to other cases reported in the literature. Case report and literature review of published cases of successful BP treatment with JAK inhibitors. The case report describes a 73-year-old male with refractory BP that was successfully managed with the combination therapy of tofacitinib and low-dose glucocorticoids for 28 weeks. Immunohistochemistry and RNA sequencing were performed to analyze the underlying mechanism of tofacitinib therapy. A systematic literature search was conducted to identify other cases of treatment with JAK inhibitors. Throughout the 28-week treatment period, the patient experienced clinical, autoantibody and histologic resolution. Immunohistochemical analysis showed tofacitinib significantly decreased the pSTAT3 and pSTAT6 levels in the skin lesions of this patient. RNA sequencing and immunohistochemical testing of lesion samples from other BP patients identified activation of the JAK-STAT signaling pathway. Literature review revealed 17 previously reported cases of BP treated with four kinds of JAK inhibitors successfully, including tofacitinib (10), baricitinib (1), upadacitinib (3) and abrocitinib (3). Our findings support the potential of tofacitinib as a safe and effective treatment option for BP. Larger studies are underway to better understand this efficacy and safety.
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Project description:BACKGROUND:Colorectal cancer is ranked third among the most commonly diagnosed malignancies and fourth among the leading causes of cancer death in the world. However, only a few case reports are found in the literature regarding skin metastasis originating from rectal cancer, which usually shows widespread disease and poor prognosis. Approximately, 0.8% of the patients will have skin lesion as the first indication of a silent internal malignancy, which is rare. CASE REPORT:We report a complicated case of a 45-year-old male patient who referred to our highly specialized governmental hospital for diversion loop colostomy as well as biopsies of rectal and inguinal skin areas followed by palliative radiation therapy to the pelvis. Histopathological exam of rectal biopsies revealed moderately differentiated rectal adenocarcinoma, while the skin of the right inguinal area showed metastatic cutaneous rectal adenocarcinoma. Unfortunately, palliative radiation therapy was not started as the patient passed away secondary to respiratory failure which ended by cardiopulmonary arrest. CONCLUSION:A patient who is having new or evolving skin lesions with an oncology history should be well investigated as cutaneous metastasis is a strong possibility.
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Project description:Somatic mutations in the EGFR proto-oncogene occur in ~15% of human lung adenocarcinomas and the importance of EGFR mutations for the initiation and maintenance of lung cancer is well established from mouse models and cancer therapy trials in human lung cancer patients. Recently, we identified DOK2 as a lung adenocarcinoma tumor suppressor gene. Here we show that genomic loss of DOK2 is associated with EGFR mutations in human lung adenocarcinoma, and we hypothesized that loss of DOK2 might therefore cooperate with EGFR mutations to promote lung tumorigenesis. We tested this hypothesis using genetically engineered mouse models and find that loss of Dok2 in the mouse accelerates lung tumorigenesis initiated by oncogenic EGFR, but not that initiated by mutated Kras. Moreover, we find that DOK2 participates in a negative feedback loop that opposes mutated EGFR; EGFR mutation leads to recruitment of DOK2 to EGFR and DOK2-mediated inhibition of downstream activation of RAS. These data identify DOK2 as a tumor suppressor in EGFR-mutant lung adenocarcinoma.
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Project description:Introduction: Small cell lung cancer (SCLC) transformation represents a mechanism of resistance to osimertinib in EGFR-mutated lung adenocarcinoma, which dramatically impacts patients' prognosis due to high refractoriness to conventional treatments. Case Description: We present the case of a patient who developed a SCLC phenotypic transformation as resistance mechanism to second-line osimertinib for T790M-positive EGFR-mutated NSCLC. Our patient received platinum-etoposide doublet following SCLC switch and achieved a modest clinical benefit which lasted 4 months. NGS and IHC analyses for p53 and Rb were performed on subsequent liver biopsies, revealing baseline TP53 mutation and complete absence of p53 and Rb expression. Primary cell cultures were established following a liver biopsy at the time of SCLC transformation, and drug sensitivity assays showed meaningful cell growth inhibition when osimertinib was added to platinum-etoposide compared with control (p < 0.05). A review of the current literature regarding SCLC transformation after failure of osimertinib was performed. Conclusions: Based on retrospective data available to date, platinum-etoposide chemotherapy is the preferred treatment choice in the occurrence of SCLC transformation after osimertinib failure. The extension of osimertinib in combination with chemotherapy in the occurrence of SCLC transformation as resistance mechanism to osimertinib is a matter of debate. The combination of osimertinib and platinum-etoposide was effective in inhibiting cell growth in our primary cell cultures. Clinical studies are needed to further explore this combination in the occurrence of SCLC transformation as a resistance mechanism to osimertinib.
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Project description:BACKGROUND:Osimertinib, a third-generation epidermal growth factor receptor tyrosine kinase inhibitor, is selective for both epidermal growth factor receptor tyrosine kinase inhibitor-sensitizing and T790M resistance mutations. Almost all patients who initially respond to an epidermal growth factor receptor tyrosine kinase inhibitor subsequently report disease progression. Epidermal growth factor receptor-dependent resistance mechanisms, bypass pathway activation, and histological transformation have been reported with osimertinib therapy. CASE PRESENTATION:We report a case of a 64-year-old Asian man with epidermal growth factor receptor T790M-positive adenocarcinoma that transformed to epidermal growth factor receptor T790M-negative large-cell neuroendocrine carcinoma after osimertinib therapy. A prompt rebiopsy revealed a rare mechanism of resistance to epidermal growth factor receptor tyrosine kinase inhibitor, and subsequently treatment with carboplatin and etoposide was effective. CONCLUSIONS:Despite the promising emergence of circulating tumoral DNA testing, this case report emphasizes the importance of rebiopsy of a progressive epidermal growth factor receptor-mutant tumor.
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Project description:RationaleAnlotinib has been proved to be effective in advanced refractory non-small cell lung cancer.Patient concernsA 47-year-old female non-smoker was admitted due to persistent chest tightness for a month.DiagnosesEpidermal growth factor receptor (EGFR) wild-type advanced primary lung adenocarcinoma without brain or bone metastasis.InterventionsThe patient failed 2 lines of pemetrexed/docetaxel plus carboplatin and third-line erlotinib. Fourth-line anlotinib was administered thereafter.OutcomesThe pulmonary lesions showed partial remission 5 months after anlotinib monotherapy. The patient demonstrated a progression-free survival of more than 7 months and an overall survival of >12 months. The adverse events including hypertension and fatigue were well-tolerated.LessonsSalvage anlotinib might be a reasonable choice in EGFR wild-type lung adenocarcinoma after failure of chemotherapy. Further well-designed trials are warranted to verify this occasional finding.
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Project description:Background Breast cancer is the most common cancer in women. The tumor is prone to metastasize in the brain, lung, liver, bone, and other organs; however, generally, it is less likely to metastasize in the digestive tract. Thus, breast cancer metastasizes to colon is rarely happened and easily ignored by clinicians. Such misdiagnosis may lead to delay the further diagnosis and treatment of patients, or even cause the life danger of patients due to the progress of the disease. Therefore, we propose such case reports to arouse clinicians’ attention to the rare case of digestive tract metastasis after treatment of breast cancer. We also conducted a retrospective analysis of the relevant case reports. We suggest that because breast cancer with gastrointestinal metastasis rarely occurs, and because of the lack of specificity of syndromes, it is easily misdiagnosed. Thus, the attention of the receiving doctor needs to be drawn to this tumor. We also summarized the specificity and sensitivity of the commonly used immunohistochemical detection indicators of digestive tract metastasis of breast cancer. Case Description We presented a 67-year-old female went to hospital because of “acute pain in the right lower abdomen”, after computed tomography (CT) examination, the patient was diagnosed as “acute appendicitis” and underwent laparoscopic appendectomy (LA), the post-surgery pathology confirmed metastatic carcinoma to the appendix from the breast that was removed 10 years early. The patient first came to our hospital 10 years ago because of the right breast malignant tumor. After modified radical mastectomy for right breast cancer, the patient underwent chemotherapy for 6 cycles. Tamoxifen endocrine therapy was administered after chemotherapy. The patient had a regular follow-up, with no signs of distant metastasis and local recurrence. Conclusions Metastasis from breast cancer to the gastrointestinal tract is extremely rare. For patients with breast cancer, endoscopy should be adopted as a routine follow-up item. For suspicious lesions found under endoscopy, immunohistochemistry stain should be adopted to ensure the diagnosis. For lesions that are confirmed to be metastatic from breast cancer, proper treatment should be carried out based on patients’ condition to improve the prognosis.
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