Current problems in cancer. Case reports最新文献

Patients with neurofibromathosis have a high risk of associated cancers and specialized cancer screening guidelines¹. However for most of these cancer types early detection methods currently do not exist. For some cancer types, such as breast cancer, where screening is available, it is important to note that this patient group has increased risk of breast cancer and may present at an earlier age than general population.

Here, we describe a case of 48-year-old female with clinical diagnosis of neurofibromathosis type 1, who presented with skin color changes, itching and induration in left breast between multiple skin neurofibromas. She was diagnosed with stage IV HER2 positive breast cancer with hepatic and bilateral axillary lymph node metastasis, treated with chemotherapy and anti-HER2 antibodies. CT scan also described structural lung parenchyma alterations and scoliosis.

The aim of this case study is to emphasize the need of neurofibromathosis patient education in encouraging them to seek advice as soon as new symptoms appear and to prompt medical providers to use additional caution in this patient group.

Metaplastic breast cancer is a rare variant of breast cancer with an extremely poor prognosis and limited treatment options. While standard chemotherapy has limited efficacy in treating metaplastic breast cancer, targeted therapies, immune modulating agents and antibody-drug conjugates may be promising alternatives. In this case report, we present a 72-year-old female diagnosed with metastatic triple negative metaplastic breast cancer who failed multiple lines of therapy including immunotherapy with atezolizumab and nab-paclitaxel but was able to achieve a sustained clinical response for nearly one year with the novel antibody drug conjugate Sacituzumab govitecan. Although Sacituzumab govitecan has been studied in metastatic triple negative breast cancer, its efficacy in treating metaplastic breast cancer has not yet been evaluated. To our knowledge, this report represents the first documented case of Sacituzumab govitecan being effectively used to treat metaplastic breast cancer.

Pelvic involvement of chronic lymphocytic leukemia (CLL) is exceptionally rare. Herein, we present a case series of a 61-year-old, 88-year-old, and 79-year-old female, all with a history of CLL who underwent exploratory surgery with gynecologic oncologists for newly diagnosed pelvic masses and endometrial pathology. Intraoperative findings and pathology were consistent with CLL.

Epidermal growth factor receptor tyrosine kinase inhibitors (EGFR-TKIs) have demonstrated remarkable efficacy for use in advanced non-small-cell lung cancer (NSCLC). However, the inevitable acquisition of resistance mutations to targeted TKI therapy remains the primary cause of treatment failure. We present a case of a patient with EGFR L858R-positive lung adenocarcinoma who developed resistance to erlotinib through EGFR T790M and later developed secondary resistance with HER2 amplification and a rare NCOA4-RET fusion mutation following treatment with osimertinib. Finally, we demonstrate the application of combination therapy with osimertinib with the RET inhibitor, pralsetinib.

An estimated 15% of breast cancers in the United States overexpress human epidermal growth factor receptor 2 (HER2), and patients with HER2+ breast cancer have an increased risk of developing brain metastases. The recent development of HER2-targeted agents, including trastuzumab deruxtecan (T-DXd), has resulted in improved systemic disease control, including disease metastasized to the brain. Because many patients with brain metastases have received both T-DXd and have also undergone brain stereotactic radiosurgery (SRS), it is important to explore the interaction of these treatment modalities. Here, we present two cases of clinically significant radiation necrosis (CSRN) occurring in patients with metastatic breast cancer with a treatment history including brain SRS and T-DXd. We also briefly describe two additional cases of CSRN in patients with the additional remote treatment history of trastuzumab emtansine (T-DM1) prior to T-DXd, as T-DM1 has also been reported to cause increased rates of CSRN in patients with HER2+ metastatic breast cancer with a history of SRS-treated brain metastases. While case reports and series have illustrated this phenomenon with T-DM1, no existing literature has described these findings with T-DXd. We describe these cases and review the potential etiologies for CSRN in this specific patient population, thus highlighting the need for a more thorough understanding of the potential adverse events caused by the intersection of treatment modalities, namely brain SRS and HER2-directed antibody-drug conjugates as the landscape of targeted therapies continues to evolve.

Teratocarcinosarcoma is an extremely invasive high-grade malignancy that develops in the nasal cavity and paranasal sinus, with pathological features of both teratoma and carcinosarcoma. Here, we present a case of primary teratocarcinosarcoma in the sphenoid sinus along with a review of the literature. A 70-year-old woman presented to our hospital with chief complaints of diplopia, photophobia in the right eye, and dull pain in the back of the right eyeball. Ophthalmological examination showed no abnormalities, and head magnetic resonance imaging showed a tumoral lesion extending from the sella turcica to the sphenoid sinus. Endonasal endoscopic removal of the malignant tumor was performed under general anesthesia. Intraoperative findings revealed that the posterior wall of the sphenoid sinus had thinned out because of compression by the tumor, which had adhered to the dura mater and internal carotid artery. This made total excision difficult, and the tumor was removed as much as possible. Based on pathological examination, the tumor was diagnosed as a teratocarcinosarcoma. Since postoperative magnetic resonance imaging suggested the presence of residual tumor, irradiation was administered at a dose of 36 Gy in 12 fractions with CyberKnife. Subjective symptoms, including diplopia, showed improvement, and imaging showed regression of the lesion. The patient has had an uneventful course without recurrence for 40 months. Maximal safe excision via endonasal endoscopic approach combined with the use of CyberKnife is a potentially useful and minimally invasive treatment method for teratocarcinosarcoma in the sphenoid sinus.

Breast cancer is extremely rare in children and consequently no consensus has been reached on the optimal treatment modalities. We have reported the medical history of secretory breast carcinoma (SBC) in a 6-year-old girl. An areolar-sparing mastectomy was performed without axillary surgery, and without adjuvant therapy given her limited disease and the histological type. We have reviewed the literature and summarized relevant findings concerning the clinical and histological data, treatment approaches, and outcomes for 33 cases of SBC (15 children and 18 adolescents). International data suggests that local excision without axillary surgery may be a suitable therapeutic approach for children with SBC.

Targeted therapies are recommended for treatment of patients with non-small cell lung cancer (NSCLC) with actionable driver mutations, including those with poor performance status, who otherwise have limited treatment options. However, clinical trial evidence in patients with poor performance status is often sparse, especially for newer drug classes. Tepotinib, an oral, once-daily MET inhibitor, was recently approved for the treatment of advanced/metastatic NSCLC with MET exon 14 (METex14) skipping based on the durable clinical activity observed in the Phase II VISION trial. We report an excellent response to tepotinib in a patient with metastatic NSCLC with METex14 skipping, which was achieved despite a poor baseline Eastern Cooperative Oncology Group performance status (ECOG PS) of 3, substantial symptom burden, and prior intolerance to chemotherapy. The patient attained a rapid, near-complete radiographic response, evident from the first tumor assessment at 2 months, which was maintained for >8 months (ongoing at the time of writing) and correlated with the alleviation of all disease-related symptoms and improvement in ECOG PS to 0. Tepotinib was well tolerated despite the poor clinical condition and prior intolerance to chemotherapy. This case report provides real-world evidence for the clinical effectiveness of tepotinib and indicates that a dramatic response can be attained without clinically significant adverse events, even in a patient who would typically be ineligible for clinical trials due to poor ECOG PS.

We report a case of bronchiolitis obliterans (BO) due to afatinib treatment. A 42-year-old woman was diagnosed with stage IVB lung adenocarcinoma (cT1bN3M1c) positive for the L861Q mutation of EGFR and was treated with afatinib. Seven months after the onset of afatinib therapy, she presented with a cough that gradually worsened despite treatment for bronchial asthma. Pulmonary function tests showed severe obstructive patterns that were not improved with inhaled bronchodilators. Chest computed tomography revealed a mosaic attenuation pattern, and pulmonary ventilation-perfusion scintigraphy showed a matched defect. She had no underlying causes of secondary BO, and she was therefore diagnosed with afatinib-induced BO. Respiratory function did not deteriorate further after discontinuation of afatinib or after subsequent treatment with osimertinib. This case indicates that afatinib is a potential trigger for BO. Clinical oncologists should therefore bear in mind the possible development of this potentially fatal adverse event in patients undergoing afatinib treatment; they should be alert to respiratory symptoms and consider periodic pulmonary function tests.