AME Case Reports最新文献

Background: Male primary retroperitoneal choriocarcinoma (PRC) is rare with poor prognosis. No literature reports co-occurrence of testicular teratoma and PRC diagnosed after puberty.

Case description: A 23-year-old man presented pain in the right lower abdomen for 11 days without any other symptoms. He claimed he was not a smoker and had no history of any disease. Physical examination found his pain got worse in supine position. Laboratory testing found white blood cell count of 11.0×10⁹/L, C-reactive protein of 40.0 mg/L, and β human chorionic gonadotropin of 5,350.27 IU/L. Ultrasound found a hypoechoic mass (0.8 cm × 0.5 cm) in the right testis. Image examinations confirmed a retroperitoneal mass (42 mm × 42 mm) bleeding with hematoma and lung metastasis. Orchiectomy and the excision of the retroperitoneal mass were done on 27 October and 3 November, 2023, respectively. Surgery helped relieve his pain and obtain the tissues for histopathology but its location made the surgery difficult to conduct. The cryopathological results of the testicular mass showed small tissues of cartilage and squamous epithelium with mature differentiation and which immunochemical markers testing showed Ki-67+ (positive), inhibin A+, vimentin+ and WT-1+. The histopathological results of the retroperitoneal mass confirmed choriocarcinoma with massive necroses and neural invasion and which immunochemical markers testing showed inhibin A+, HCG+, CK7+, CK+, Ki-67(80%+), P40(partial+), and CD34(vascular+). The patient had routine chemotherapy after surgery and followed up to his death on 27 September, 2024.

Conclusions: This is the first study that has reported such a rare co-occurrence of male PRC with lung metastasis and testicular mature teratoma diagnosed after puberty. Surgery is the first choice for this case. A thorough evaluation of the retroperitoneal tumor before surgery is critical for the surgeon to pick an appropriate operation program. Immunochemical markers can provide some evidence for the subsequent treatment and prognosis prediction. Very poor prognosis with only 11-month survival time is predicted by both tumors having high percentage of Ki-67 +, the retroperitoneal tumor having vascular and neural invasiveness with lung metastasis, and high malignancy of male PRC at the late stage.

Background: Retroperitoneal sarcomas are rare, deep-seated tumors that frequently present late with nonspecific symptoms. In patients with neurotrophic tyrosine receptor kinase (NTRK)-fusion sarcomas, targeted therapies such as anlotinib may offer disease control but can also precipitate life-threatening complications, including septic shock and hemorrhage. This case is unique in its demonstration of a rapid transition from stable disease to an oncologic emergency, highlighting the challenges of balancing therapeutic benefit with toxicity.

Case description: A 71-year-old man with a 7-month history of retroperitoneal spindle cell sarcoma-confirmed by histopathology and fluorescence in situ hybridization (FISH) for an NTRK gene fusion-presented after transfer from an outside hospital with acute abdominal pain, progressive distension, and hemodynamic instability. His previous treatment included six cycles of targeted therapy with anlotinib and multiple courses of chemotherapy, which were complicated by myelosuppression and chronic hemorrhage requiring peritoneal drainage. Initial imaging at the referring institution revealed complex retroperitoneal pathology, subtle hepatic abnormalities, and evidence of bone destruction. Shortly after admission at our facility, despite an initial bedside ultrasound, the patient's condition deteriorated and emergent computed tomography (CT) confirmed a ruptured hepatic hemangioma with intra-abdominal and pelvic hemorrhage along with a heterogeneous, necrotic retroperitoneal mass invading adjacent structures. Urgent transarterial embolization, drainage procedures, and intensive supportive care stabilized his condition.

Conclusions: This case underscores the need for rapid, multidisciplinary intervention-including early contrast-enhanced imaging and interventional radiology-to manage oncologic emergencies in advanced NTRK-fusion sarcoma patients.

Background: Langerhans cell sarcoma (LCS) is a rare, aggressive neoplasm of Langerhans cells with potential for multi-organ involvement. LCS appearing in the tonsils and spreading to the gastrointestinal (GI) tract is extremely rare. This report describes a case of tonsillar LCS with GI metastasis in an elderly female.

Case description: An 83-year-old female with a history of over 50 years of heavy smoking presented in February 2024 with progressive left tonsillar swelling, dysphagia, significant weight loss, and pain impacting her ability to eat. Physical examination revealed a left tonsillar mass and cervical lymphadenopathy, with an Eastern Cooperative Oncology Group performance status of 2-3. Initial neck computed tomography (CT) imaging demonstrated a 3 cm × 3.5 cm × 6.4 cm left oropharyngeal mass with extensive local invasion and necrotic cervical lymphadenopathy. Positron emission tomography-CT (PET-CT) confirmed hypermetabolic activity in the left nasopharyngeal region and further invasion. Histological examination of an incisional biopsy, from the tonsillar mass, confirmed LCS, with positive immunohistochemical markers (S100, CD1a, BCL6, Langerin) and a high Ki-67 index (90%). The patient underwent radiation therapy and pembrolizumab for metastatic control. Despite treatment, a PET-CT revealed progression with abdominal lymph node involvement, pleural effusion, and gastric wall thickening. In July 2024, she experienced acute upper GI bleeding managed with blood transfusions and supportive care, with endoscopic biopsy confirming metastatic spread. By August 2024, the patient was readmitted with an acute abdomen due to gastric perforation, leading to a transition to palliative care due to LCS progression and GI complications. The patient died six months after initial diagnosis.

Conclusions: Further studies are needed to explain the pathogenesis of LCS, investigate targeted therapeutic approaches, and develop standardized management protocols for localized and metastatic LCS presentations to improve outcomes.

Background: Complications from in-office inferior turbinate (IT) and septal swell body coblation typically include pain, congestion, and bleeding. However, rare cases of cranial nerve palsies from local anesthetic infiltration can occur. We present a rare case of an oculomotor nerve palsy and palsies of the ophthalmic (V1) and maxillary (V2) branches of the trigeminal nerve following intranasal local anesthetic infiltration prior to coblation, a complication not previously documented in the literature. Awareness of such rare and transient complications can help surgeons and clinicians avoid unnecessary interventions and better counsel patients.

Case description: A 75-year-old female with a one-year history of recalcitrant bilateral nasal obstruction underwent an in-office primary bilateral coblation of the ITs and septal swell bodies. Four percent lidocaine-soaked neuropatties were applied over the ITs and septal swell bodies, followed by infiltration with 0.25% bupivacaine hydrochloride with 1:200,000 epinephrine. Shortly after infiltration, the patient developed left-sided ptosis and was unable to adduct the left eye, causing diplopia. Additionally, the patient reported paresthesia in the V1 and V2 dermatomes. All symptoms resolved within 15 minutes. At the 6-week post-procedure visit, there was no sustained diplopia, left eye ptosis, or facial paresthesia. These symptoms also remained absent at the six-month post-procedure visit.

Conclusions: Although relatively low-risk, surgeons should be aware of potential cranial nerve complications associated with intranasal anesthetic administration. Recognizing the benign and reversible nature of such presentations may help avoid unnecessary diagnostic workups, reduce patient distress, and reinforce best practices such as aspiration prior to infiltration and slow injection techniques.

Background: Small intestine varicose vein is a common ectopic varicose vein of digestive tract. Duodenum is the most bleeding ectopic varicose vein. The possible clinical manifestations include black stool and blood in stool. Because of the special location of ectopic varicose veins, it is difficult to detect early in clinic. This patient has multi-site varicose veins, and the treatment process is tortuous, combined treatment of medicine and surgery.

Case description: This case report presents a 58-year-old male with alcoholic liver cirrhosis, with black stools as the main clinical manifestation. There is a history of abdominal surgeries such as splenectomy in the past. Through gastroscopy, enteroscopy, and other examinations, multiple ectopic varicose veins in the duodenum and jejunum were found. After conventional endoscopic treatment, there was still active bleeding. Later, combined surgical treatment successfully stopped the bleeding. The patient no longer had black stools and was discharged from the hospital after his condition improved.

Conclusions: Ectopic varicose veins are an important complication of portal hypertension. Clinical awareness of the possible presence of ectopic varicose veins is essential for early detection and management in patients with gastrointestinal bleeding whose source is uncertain. Clinically, the understanding of ectopic varicose vein rupture and bleeding should be enhanced. A clear diagnosis can be made through enteroscopy. In terms of treatment, the first consideration should be to reduce portal pressure. Simple endoscopic treatment may have a poor effect. Relevant risk factors can be studied to conduct primary prevention for high-risk patients in advance.

Background: Hyperthyroidism is a prevalent condition characterized by increased excitability of multiple systems and hypermetabolism. Toxic multinodular goiter (TMNG) is a prevalent cause of thyrotoxicosis secondary to Graves' disease. TMNG is mostly treated with radioiodine (¹³¹I) or thyroidectomy but is rarely treated with microwave ablation (MWA). Here, we present a case of a 33-year-old female with TMNG who underwent ultrasound-guided percutaneous MWA to control hyperthyroidism and reduce the size of her thyroid nodules.

Case description: The patient was diagnosed with hyperthyroidism 3 years ago and was not treated with any anti-hyperthyroidism drugs. She refused radioactive iodine (RAI) and surgery due to worry about hypothyroidism after RAI and scarring after surgery. MWA was chosen as her treatment method due to its minimally invasive nature and guidance by ultrasound images. After systematic clinical evaluation, she underwent a twice ultrasound-guided percutaneous thyroid nodules MWA of thyroid successfully. Thyroid function of this patient began to gradually return to normal 14 weeks after the second ablation. The volume of ablated thyroid nodules was significantly reduced.

Conclusions: Ultrasound-guided percutaneous MWA is an effective, safe and minimally invasive method for treating TMNG. It is a viable alternative to the two traditional treatment methods.

Background: Epithelioid hemangioendothelioma (EHE) is a vascular tumor of unpredictable clinical behavior, representing a diagnostic and therapeutic challenge due to its rarity and complex presentation. This case report highlights a unique presentation of pulmonary EHE in a 69-year-old female and provides a comprehensive review of the literature to enhance awareness and understanding of this condition.

Case description: A 69-year-old Caucasian female with a history of type 2 diabetes and hypertension presented with progressive chest pain and right-sided neck and shoulder discomfort. Imaging revealed a significant right pleural effusion and a superior mediastinal mass, raising suspicion for malignancy. Histopathological analysis confirmed EHE, with immunohistochemical positivity for CD31 and negative staining for CD34, supporting the diagnosis. The patient underwent surgical resection and vascular stenting, followed by targeted therapy with trametinib as per SARC033 trial protocols. A 4-month follow-up showed no evidence of disease progression.

Conclusions: The clinical ambiguity of EHE necessitates awareness and prompt action due to its potential for aggressive behavior and varied therapeutic responses. Early recognition, histopathological confirmation, and a multidisciplinary approach are essential for optimal management. While surgical resection is preferred for localized disease, targeted therapies show promise in advanced cases. Continued research is needed to refine treatment protocols and improve patient outcomes.

Background: Papillary thyroid carcinoma (PTC) is the most common types of thyroid cancer; and the 10-year survival rate vary from 85% to 100%. Although the prognosis of PTC is generally favorable, recurrence and metastasis occur in approximately 4.3% to 35% of cases. Lymph node metastasis is relatively prevalent, while distant metastasis is comparatively infrequent.

Case description: This case report details a 61-year-old female diagnosed with PTC. The patient's pathological stage was pT3aN1aM0, and according to the American Thyroid Association (ATA) risk classification, she was categorized as intermediate risk. The patient underwent total thyroidectomy and local lymph node dissection; however, radioactive iodine-131 treatment was not administered. Postoperatively, the patient regularly consumed levothyroxine sodium yet failed to have her thyroid hormone levels monitored. A decade following the surgical procedure, the patient presented with isolated lung metastasis. However, given the lengthy history of the patient's thyroid cancer, the clinical diagnosis initially entertained the possibility of a primary lung tumor. Subsequently, a wedge resection of the lung was performed on the patient, and the postoperative pathology confirmed metastasis of PTC.

Conclusions: This rare case appears to indicate that patients with intermediate-risk PTC, as defined by the ATA, may benefit from postoperative radioactive iodine-131 treatment. Such treatment could potentially minimize the likelihood of tumor recurrence and metastasis to the greatest possible extent.

Background: Diaphragmatic electrical stimulation (DES) describes the process whereby electrical impulses are delivered to the diaphragm or phrenic nerves to elicit diaphragmatic contraction. DES is also known as diaphragmatic pacing, phrenic pacing, electrophrenic respiration or electroventilation. DES may be used as an alternative to positive pressure ventilation in selected patients with high spinal cord injury (SCI) or central hypoventilation syndromes (CHS). By enabling a more physiological form of respiration, it can allow speech, improve olfaction, decrease the frequency of respiratory infections, and ultimately it may improve both the duration and quality of patients' lives.

Case description: This case report provides an overview of the use of DES in 3 patients, one with diaphragmatic intramuscular electrodes and 2 with phrenic nerve stimulation (PNS) leads. We provide details of our assessment strategy prior to implantation and videos of the expected diaphragmatic descent and flow diversion created in a ventilated patient with a single twitch stimulus. Within two months of implantation, our first patient had measurably improved speech in addition to periods of ventilator independence. Our second and third patients were successfully weaned from the ventilator within 6 months. Staffing and safety concerns have mandated a return to overnight mechanical ventilation for both patients. Despite this, liberation from the ventilator and its ancillary tubing has yielded improvements in quality of life and a reduction in the frequency of respiratory infections over the past 4 years for both patients.

Conclusions: The patients in this case report derived significant benefit from DES, however, the lack of physiological responsiveness, particularly in quadriplegic patients, and the open loop design requiring repeated manual adjustment are ongoing issues. These systems require external components and frequent battery changes due to high energy demands. Those interested in this technology should expect a steep learning curve. Despite these limitations, with careful patient selection, DES has the potential to make a positive contribution to each patient's quality of life.

Background: Granular cell tumor (GCT) is an exceedingly rare lesion primarily characterized by benign hyperplasia. GCT was first described by Professor Abrikossoff in 1926 in the tongue, and has since been identified in various anatomical locations. GCT of the chest wall is particularly uncommon, with limited documentation in literature.

Case description: A 32-year-old female presented with a right anterior chest wall tumor persisting for over 4 years. Examination revealed a localized bulge near the sternal manubrium, with normal overlying skin. Palpation revealed a firm mass. Chest computed tomography (CT) scan indicated that the tumor size was approximately 2.5 cm × 2.5 cm × 1.5 cm, with distinct boundaries and limited mobility. The chest wall mass was excised under general anesthesia. The tumor was completely excised with an electric knife and submitted for pathological analysis. Pathological analysis confirmed a granulosa cell tumor of the chest wall. Routine anti-inflammatory treatment and wound compression bandaging were administered, with discharge occurring one week later. Three years post-resection, there was no evidence of recurrence nor metastasis.

Conclusions: GCT lacks distinct imaging features, with diagnosis primarily dependent on pathological examination. Typically, these tumors are found in the subcutaneous or submucosal layers. Complete surgical resection is the preferred treatment for GCT. The prognosis for benign granulocytoma post-resection is favorable, with a low recurrence rate. Postoperative follow-up is essential.