AME Case Reports最新文献

Background: Pancreatic cancer is characterized by chemoresistance. In recent years, more potential therapeutic molecular targets for pancreatic cancer have been developed, and thus increasing attention has been paid to precise chemotherapy to improve the prognosis of patients with advanced pancreatic cancer.

Case description: In this study, we reported two rare cases of advanced pancreatic cancer. One patient was diagnosed with retroperitoneal lymph node metastasis after radical resection of pancreatic ductal adenocarcinoma. The diagnosis of another patient was pancreatic ductal adenocarcinoma with liver metastasis. The whole genome sequencing of their tumor tissues detected both wild-type Kirsten rat sarcoma viral oncogene homolog (KRAS) and mutant breast cancer susceptibility gene (BRCA). And immunohistochemistry showed their tumor tissue was negative for epidermal growth factor receptor. We used the combined chemotherapy of gemcitabine (1,000 mg/m²) + oxaliplatin (135 mg/m²) + nimotuzumab (400 mg). After nine times of chemotherapy, the imaging examinations including positron emission tomography-computed tomography showed that both cases achieved complete remission. And there were no serious side effects during chemotherapy. Then, the patients were treated with oral olaparide (600 mg/day) for one year, and survived without tumor progress for more than 1.5 years.

Conclusions: These two cases achieved excellent effects of precise chemotherapy, which provided an important reference for the treatment of pancreatic cancer patients with wild KRAS and mutant BRCA.

Background: Camrelizumab has been widely used in the treatment of various cancers, it is important to determine the side-effect of this drug and the corresponding treatment strategy.

Case description: The current case report describes the clinic, diagnosis, treatment and prognosis of camrelizumab-related encephalitis. Camrelizumab was administrated to a 67-year-old man with squamous cell carcinoma (SCC), a form of non-small cell lung cancer (NSCLC). One month after the treatment, the patient showed typical encephalitis symptoms including systemic fatigue, numbness of extremities and walking instability. Furthermore, the total protein in cerebrospinal fluid (CSF) was significantly elevated (1,399 vs. normal range 120-600 mg/L). Importantly, magnetic resonance imaging showed there was no brain metastasis. The patient did not get better after two days of intravenous injection of thioctic acid (1.2 g) and cobamamide (1.5 mg) once daily. Therefore, this patient was diagnosed as camrelizumab-related encephalitis. Then, we put him on one-month regimen: oral taper corticoids (methylprednisolone, MP) at 500 mg (days 1-4), 120 mg (days 5-10) and 60 mg (days 11-15); MP was replaced with oral prednisone acetate at 30 mg (days 16-30). After the treatment, the total protein in CSF was decreased to 873 mg/L, and all of encephalitis-related symptom was completely lost. About one year after the onset of encephalitis, the patient showed no recurrence of neurological symptoms.

Conclusions: The present case proves the efficacy and safety of corticoids in the treatment of camrelizumab-related adverse effects.

Background: Chylothorax is an uncommon condition defined by the escape of lymphatic fluid into the pleural space originating from the thoracic duct.

Case description: Our case involves a male patient in his 60s who developed traumatic chylothorax after being involved in a bicycle collision. The total body computed tomography (CT) showed multiple fractures of the ribs and spine, including a fracture of the anterior column of the Th12 vertebra. The patient was placed under observation in the intensive care unit and because of the instability of the Th12 fracture operative stabilization was performed with a percutaneous dorsal pedicle screw-rod spondylodesis. One day postoperatively, the patient suffered from acute respiratory distress; vital signs and hemoglobin levels remained stable. CT angiography was performed showing a large amount of fluid in the right pleural cavity. A chest tube was placed and a total of 3 L of fluid was evacuated. The next day a chylous production of 2 to 3 L per 24 hours was observed. Initiation of nutritional management for the patient involved a medium-chain triglyceride (MCT) diet in conjunction with total parenteral nutrition (TPN) administration. Due to the ongoing chylous leakage, despite the MCT diet and TPN, the patient underwent video-assisted thoracic surgery (VATS); the thoracic duct was identified and clipped. In addition, a VATS chemical pleurodesis with talc was performed. The chylous drainage ceased and after a total of 8 weeks the MCT diet was stopped.

Conclusions: This case report encompasses relevant diagnostic evaluations and the array of medical treatments applicable to a chylothorax resulting from trauma.

Background: Extra-adrenal pheochromocytoma (paraganglioma) of the urinary bladder is a rare tumor, accounting for 0.05% of bladder tumors and less than 1% of all paragangliomas. In the genitourinary tract, paragangliomas are most commonly found in the bladder. These tumors have aggressive malignant potential, so complete surgical resection for localized disease is important. Paragangliomas may be non-functional or functional with catecholamine secretions. Although these tumors are rare and difficult to distinguish from urothelial carcinoma (UC), intraoperative manipulation of these tumors may lead to a catecholamine surge and intraoperative complications. Preoperative or early intraoperative recognition of this tumor would facilitate appropriate alpha blockade to minimize morbidity.

Case description: Herein we report a rare non-functional paraganglioma arising from the bladder of a 46-year-old male. This case is notable for the location of the mass, requiring a 70-degree cystoscopic lens for complete visualization near the bladder neck, and for the identification of a golden-yellow sessile mass during the resection. Upon visualization of this mass, the operation should be paused for close hemodynamic monitoring and assess for signs of hypertensive crisis prior to continuing without alpha blockade.

Conclusions: Suspected localized bladder paraganglioma cases should be optimized hemodynamically and managed surgically. Visualization of a sessile bladder mass on gross examination with golden-yellow tumor during the resection should prompt suspicion for a paraganglioma. Biochemical evaluation with serum or urine catecholamines, metanephrines, and normetanephrines should be performed to assess for tumor functionality.

Background: Multiple endocrine neoplasia type 2B (MEN2B) is a rare autosomal dominant syndrome characterized by medullary carcinoma of the early thyroid, pheochromocytoma, and non-endocrine manifestations, such as marfanoid habits and other skeletal abnormalities as well as mucosal neuromas and ganglioneuromatosis of the gastrointestinal tract.

Case description: A 10-year-old male began follow-up at our service at 3 years of age through pediatric gastroenterology due to intestinal constipation. The mother also reported that the child had painless lesions on the tip of the tongue since birth with progressive worsening. The patient simultaneously began follow-up with pediatric endocrinology due to low gains in weight and height, between which only isolated low weight was found, and the onset of follow-up with the pediatric neurology team due to longstanding headache combined with vomiting, photophobia, and phonophobia as well as a specific reading and writing disorder. The patient was sent to clinical genetics. The child's karyotype was 46, XY (normal). Through a physical examination, the pediatric neurology team identified joint hypermobility, important muscle hypotrophy, gingival hypertrophy, and lipodystrophy. The patient was sent to neurogenetics, initiating a set of general laboratory exams for the investigation of the lipodystrophy and a panel of exams for lipodystrophy, neuropathy, and muscle hypotrophy as well as electroneuromyography. MEN2B due to genetic mutation was confirmed and the patient was sent to the pediatric endocrinology clinic for follow-up. Currently 10 years of age and again with the pediatric endocrinology team for the diagnosis of MEN2B, the investigation of pheochromocytoma and medullary thyroid cancer was initiated.

Conclusions: An additional mutation occurs in most cases of MEN2B. The diagnosis is only established when the child or, in most cases, adolescent presents with medullary thyroid cancer in an advanced and even metastatic stage. However, non-endocrine manifestations, can lead to an early diagnosis and timely intervention. The diagnosis of MEN2B is made with the confirmation of the autosomal dominant genetic mutation or a mutation of the RET gene. In the absence of these mutations, the majority of clinical manifestations should be present.

Background: Asymptomatic congenital pulmonary airway malformations (CPAMs) and congenital lobar emphysema (CLE) may safely be observed, though little is known about how many patients later require surgery. The management of these lesions remains controversial, as limited research exists on which patients later require surgery. Notably, there are few reported cases where patients become symptomatic and require definitive treatment beyond childhood.

Case description: We present the rare case of a 17-year-old female who developed dyspnea on exertion associated with pre-syncope, following diagnosis of a CPAM at birth. She had undergone surveillance until 2 years of age. The decision to proceed with a left upper lobectomy via thoracotomy was made, for treatment of her symptoms. During the surgery, one lung ventilation suggested that oxygenation had likely limited to the patient's healthy lung, prior to intervention. The surgery was uncomplicated, and her recovery was uneventful. Pathology revealed CLE.

Conclusions: This case highlights that congenital lung malformations should remain in the differential diagnosis of patients presenting in adolescence or adulthood with new onset respiratory symptoms. For patients with a history of untreated congenital lung pathology, it is important to consider the presence of adhesions and loss of domain in perioperative planning. This case also highlights the ongoing need for research on the prognostication of these lesions to better inform surveillance.

Background: Breast cancer has the potential to metastasize to various sites; however, cases of metastasis to the cervix are rare. Here, we present clinical and pathological data from a rare case of primary breast cancer metastasis to the cervix, including imaging characteristics and clinical progression.

Case description: A 68-year-old female patient self-detected nodules in her right breast. B-ultrasound examination revealed multiple nodules in the right breast, classified as Breast Imaging Reporting and Data System (BI-RADS) 4c. Radical treatment for right breast cancer was commenced. Histopathologic diagnosis revealed invasive ductal breast carcinoma of no specific type, with intraductal carcinoma in the right breast. Immunohistochemical analysis indicated that the tumor was androgen receptor (AR)-diffuse strong positive, estrogen receptor (ER)-negative, progesterone receptor (PR)-negative, with human epidermal receptor-2 (HER2, c-erbB-2) overexpression, and Ki-67 proliferation index 60%. The tumor was positive for GATA binding protein 3 (GATA-3) and fluorescence in situ hybridization (FISH) analysis revealed HER2 gene amplification. Chemotherapy was discontinued after completing three cycles. Three years after stopping chemotherapy, she experienced lower abdominal, pain with cervical bleeding, and underwent aspiration biopsy. Immunohistochemical results indicated: AR-diffuse strong positive, ER-negative, PR-negative, c-erbB-2-negative, and Ki-67 30%, with gross cystic disease fluid protein-15 (GCDFP-15) and GATA-3 both diffuse strong positive. Lung mass detection prompted lung puncture and biopsy, with immunohistochemical results: ER-negative, PR-negative, c-erbB-2-positive, Ki-67 30%, with GCDFP-15-diffuse positive, and GATA-3-diffuse positive. No HER2 gene amplification was detected by FISH. She was diagnosed with ductal breast carcinoma metastasized to the uterus and lung, based on morphological, immunohistochemical, and clinical findings. Eight months later, she developed a neck mass, and mass puncture and biopsy confirmed metastatic breast cancer [immunohistochemical results: ER-negative, PR-negative, c-erbB-2-positive, Ki-67 30%, trichorhinophalangeal syndrome type 1 (TRPS1)-positive, and GATA-3-positive]. The primary tumor was ER-negative, PR-negative, with HER2 amplification. Later, cervical, pulmonary, and neck metastases were ER-negative, PR-negative, and HER2 negative. The patient remains alive; last follow-up was February 15, 2024, 50 months after radical treatment for breast cancer.

Conclusions: We report a relatively rare case of primary breast cancer metastasis to three metastatic sites: cervix, lung, and neck. To our best knowledge, this is the first report of primary breast cancer metastasis to three sites including the cervix.

Background: Herpes simplex virus (HSV) encephalitis is the most common nonepidemic encephalitis and can result in temporal lobe necrosis. Inflammation of the temporal lobe can result in temporal lobe epilepsy which is known to cause psychiatric symptoms.

Case description: We describe the case of a geriatric male patient who was admitted for new-onset visual hallucinations and other neuropsychiatric symptoms which began five days prior to admission. His lab work was unremarkable, and a computed tomography (CT) scan of the brain demonstrated small vessel ischemic disease. There was clinical suspicion for seizures, and electroencephalogram (EEG) monitoring showed focal seizure activity in the right hemisphere. He received a brain magnetic resonance imaging (MRI) which was suspicious for encephalitis. Various etiologies were considered, and he received an extensive workup including cerebrospinal fluid evaluation. Ultimately, he improved with empiric antiviral treatment added alongside multiple antiepileptic agents. The seizure control and resolution of symptoms with antiviral treatment, in addition to the findings of his central nervous system (CNS) workup, confirmed the presumptive diagnosis of HSV encephalitis.

Conclusions: Understanding the multifactorial causes of neuropsychiatric symptoms is important in determining an appropriate workup. The acute onset of specific symptoms in our patient increased suspicion for a structural neurological process. His initial presentation could largely be explained by the vascular dementia and epileptiform activity that were discovered during hospitalization. However, his refractory seizures were suggestive of another underlying etiology. The localization of his seizures and MRI findings were suggestive of HSV encephalitis despite negative HSV polymerase chain reaction (PCR). A patient may benefit from antiviral treatment when the clinical picture is consistent with HSV encephalitis even in the setting of negative serological studies. Clinicians should also be mindful of false negatives on serological tests.

Background: Synovial sarcoma (SS), a malignant and uncommon soft tissue sarcoma, typically manifests in the extremities and trunk. However, its occurrence in the infratemporal fossa (ITF) of the head and neck is exceedingly rare. Patients afflicted with SS in this anatomical region pose considerable challenges, as radical surgery is often difficult to undertake, leading to a high rate of postoperative recurrence. Moreover, it is often difficult to effectively control the tumor when the cancer relapses. Much of our understanding regarding SS of ITF stems from limited case reports, with a lack of established clinical guidelines for its management. There exists a significant clinical need for effective therapeutic approaches.

Case description: This case report documents a patient with SS of ITF, experiencing repeated recurrences despite undergoing multiple surgeries and chemotherapy treatments. The patient underwent HyperArc (HA) radiotherapy (RT) in conjunction with concurrent chemotherapy utilizing cisplatin, resulting in a remarkable 3-year follow-up period devoid of recurrence.

Conclusions: The primary objective of this case report is to disseminate knowledge regarding this rare manifestation of SS of ITF, detailing the successful treatment strategy employed. In this case, we employed a comprehensive treatment strategy involving concurrent chemoradiotherapy based on HA. Our findings demonstrate that this approach was effective in achieving disease control and improving patient outcomes.

Background: Post ambulatory swollen hands (POTASH) is an acquired condition that presents as asymptomatic swelling of the hands and their digits during ambulatory activities such as walking, hiking, and running. Affected individuals cannot clench their fingers into their palm to make a fist and thereby have a positive fist sign. The benign condition typically resolves spontaneously within 2 hours with complete resolution of the swelling; the individual can make a tight fist and has a negative fist sign.

Case description: A 65-year-old man developed POTASH, when he was rapidly walking during a 13.1-mile half marathon race, that presented as asymptomatic swelling of his fingers and hands. His hands and their digits began to swell after the first hour of running and continued to progressively become larger during the remainder of the race. In addition, he had a positive fist sign demonstrated by being unable to clench his fingers to his palm and make a fist. Within 2 hours after he stopped ambulating, the swelling spontaneously resolved completely, and he had a negative fist sign by being able to make a tight fist by clenching his fingers into his palm.

Conclusions: POTASH is an idiopathic recurrent condition whose pathogenesis remains to be determined. A report of occurrence in a brother and sister raises the possibility that in some individuals, genetic factors may have a contributory role in the etiology of the condition. There is a paucity of papers on POTASH in the medical literature which suggests a lack of awareness of this condition. It is important that healthcare providers are aware of this recurrent and benign condition and can appropriately counsel affected individuals.