AME Case Reports最新文献

Background: Congenital nephrotic syndrome of the Finnish type (CNF) is an autosomal recessive disorder resulting from mutations in the NPHS1 gene, which encodes nephrin, an essential protein in the podocyte slit diaphragm. Pathogenic mutations of NPHS1 cause substantial proteinuria detectable at birth. Variants of uncertain significance (VUS) are recognized mutations, but their effects on health are not yet understood. This uncertainty makes it challenging to identify specific types of VUS that may contribute to disease development. The association of CNF with NPHS1 VUS remains unclear.

Case description: We describe the salient features of a newborn with CNF and multiple fetal anomalies based on clinical risk factors discovered by ultrasound (US) and X-rays, which include cardiomegaly, polycystic kidney disease, and renal dysplasia. Biochemical tests showed substantial proteinuria and excess protein in the urine detected at birth; this condition caused albuminuria, hypoalbuminemia, edema, and additional symptoms. The patient underwent treatment to reduce the risks of proteinuria, hypertension, infection, and other symptoms. The next generation sequencing (NGS) analysis revealed that the infant had five previously unreported heterozygous missense variants classified as VUS in NPHS1, NUP160, ALG1, and CRB2. The NPHS1 c.2150A>G and CRB2 c.1654G>T may lead to defects in the CTCF (CCCTC binding factor) and exonic splicing enhancer (ESE) motifs, respectively, which could account for the observed clinical features in the newborn.

Conclusions: The infant's illness may be related to changes in exonic splicing caused by NPHS1-VUS and CRB2-VUS. NPHS1 encodes the nephrin protein, which is crucial for the slit diaphragm of podocytes, while CRB2 is essential for slit diaphragm formation and is linked to cystic kidney disease.

Background: Fumarate hydratase-deficient renal cell carcinoma (FH-RCC) is a rare and highly aggressive form of renal cell carcinoma (RCC), with only a few hundred cases reported worldwide. Sarcomatoid renal cell carcinoma (SRCC) is a distinctive histologic variant of RCC, accounting for approximately 1.0-1.5% of renal parenchymal tumors. To date, no standardized treatment guidelines have been established for RCC characterized by the concurrent presence of FH deficiency and sarcomatoid features.

Case description: We report a case of sarcomatoid RCC with multiple bone metastases, presenting clinically with persistent lower back pain. Genetic testing revealed a germline mutation in the FH gene. After 6 months of combined treatment with immune checkpoint inhibitors (ICIs) and tyrosine kinase inhibitors (TKIs), the activity of the bone metastatic lesions was substantially suppressed, and the primary renal tumor was managed with cryoablation and renal artery embolization. No local or systemic recurrence has been observed, and the patient has maintained a progression-free survival (PFS) for nearly 1 year.

Conclusions: RCC with both FH gene loss and sarcomatoid differentiation is an exceedingly rare entity. Genetic testing and immunohistochemistry are critical for accurate diagnosis. Immunotherapy and targeted therapies may serve as potential translational treatment strategies, offering an opportunity for effective management of the primary tumor in conjunction with radiotherapy.

Background: Acute pancreatitis (AP) is a condition with varying severity, ranging from mild to severe, each presenting different prognostic outcomes. Accurate and early assessment of AP severity is crucial for determining appropriate treatment and management. Traditionally, the severity of AP has been evaluated using clinical criteria or imaging, but discrepancies between these assessments can complicate clinical decision-making.

Case description: This case report presents two patients with AP, where a mismatch was observed between clinical and imaging severity assessments. In the first case, laboratory tests suggested mild AP, while computed tomography (CT) imaging indicated severe pathology. In contrast, the second case showed severe AP according to the Acute Physiology and Chronic Health Evaluation II (APACHE II) score, but the CT imaging only revealed mild findings. This clinical-CT mismatch highlights the need for a comprehensive approach to evaluating AP severity, rather than relying on a single assessment method.

Conclusions: The report introduces the concept of clinical-CT mismatch in the assessment of AP. It emphasizes the importance of integrating clinical scores, such as APACHE II, with imaging findings to provide a more accurate and reliable evaluation of severity. By doing so, clinicians can enhance decision-making and improve management strategies for AP.

Background: Intraoral basal cell carcinoma (IOBCC) is an extremely rare cancer and is usually treated with surgical excision. However, the management of recurrent IOBCC not amenable to resection is unknown. We report a case of effective treatment of recurrent IOBCC with vismodegib with rapid and durable response following only 6 months of treatment.

Case description: A 60-year-old female with IOBCC was first diagnosed in August 2016 involving right buccal mucosa and right anterior hard palate. She subsequently underwent wide local excision with involved margins. Her first local recurrence occurred four and a half years after initial diagnosis and went on to have further surgical resection. Her second local recurrence occurred 2 years later, where further surgery and radiotherapy were not amenable. She was then treated with vismodegib 150 mg daily, delivered via her gastrotomy feeding tube and she achieved clinical complete response within 3 months of treatment. Following 6 months of treatment, due to progressive side effects, she ceased treatment. She remains on surveillance and disease-free on clinical examination and repeat biopsy for the past 2 years. To our knowledge, this is the first case of inoperable recurrent IOBCC treated with vismodegib, delivered via gastrotomy tube, leading to a durable complete response. The patient's tumour showed significant regression within 3 months of treatment initiation, with continued improvement over the following year. The rapid and durable response to vismodegib in this case is particularly noteworthy, considering the aggressive nature of recurrent IOBCC and the patient's prior treatment history. The effective administration of vismodegib through a gastrostomy feeding tube is an additional important clinical finding. This approach demonstrates the flexibility of vismodegib treatment and may be applicable to other patients facing feeding or medication administration challenges.

Conclusions: Vismodegib can induce rapid, effective, and durable responses in IOBCC. The administration of vismodegib via gastrotomy tube was found to be safe and did not compromise its efficacy. Longer-term and larger cohort follow-up studies are needed to fully evaluate the efficacy and safety of vismodegib in this patient population.

Background: With the increasing use of inhaled drugs such as cocaine and amphetamines, drug-induced lung injury has become a relevant condition in emergency settings. "Crack lung" is a well-documented, acute pulmonary syndrome associated with inhalation of cocaine, characterized by respiratory distress, hemoptysis, and various radiographic findings. While the syndrome is more common among younger individuals, it can present in older patients, often triggered by the acute use of inhalative drugs.

Case description: A 60-year-old obese male with no significant history of lung or cardiac disease presented to the emergency department with sudden-onset dyspnea, severe hemoptysis, palpitations, and tachycardia. Vital signs indicated hypertension (180/110 mmHg) and hypoxia [peripheral capillary oxygen saturation (SpO₂) of 80% on room air]. The electrocardiogram (ECG) revealed sinus tachycardia but no right bundle branch block (RBBB). Laboratory tests were mostly unremarkable, and a computed tomography (CT) scan ruled out pulmonary embolism but showed diffuse bronchial wall thickening consistent with bronchitis or atypical pneumonia. During the clinical interview, the patient admitted to recent use of inhaled cocaine and amphetamines, leading to the diagnosis of early-stage "crack lung". After stabilization by administration of oxygen, bronchodilatators and prednisolone, the patient was discharged with follow-up care focusing on cessation of drug use and monitoring for potential lung damage. Bronchoscopically, there was no evidence of another cause of hemorrhage such as tumor growth.

Conclusions: This case highlights the importance of recognizing drug-induced lung injury in patients presenting with acute respiratory distress and hemoptysis. As the use of inhaled drugs such as cocaine continues to rise in Germany, awareness of conditions like "crack lung" is essential for timely diagnosis and management. Steroids may play a role in reducing inflammation, but further research is needed to establish standardized treatment protocols for this condition.

Background: Maturity-onset diabetes mellitus of the young (MODY) is a form of autosomal dominant inherited diabetes, featuring diverse clinical characteristics due to distinct pathogenic gene mutation sites. Reports on MODY caused by RFX6 mutations are scarce, and it is prone to being misdiagnosed as type 1 or type 2 diabetes in clinical settings. To date, no cases have been reported regarding patients with RFX6 gene mutations accompanied by refractory hyperlipidemia, and the treatment remains undetermined. We present a rare case of a 13-year-old Chinese girl who was admitted to the Third Affiliated Hospital of Soochow University with diabetes combined with refractory hyperlipidemia.

Case description: A 13-year-old adolescent female presented with persistent dry mouth, polydipsia, and polyuria. The physical examination accidentally found high blood glucose. She had refractory hyperlipidemia in the past and was treated with a variety of lipid-lowering programs, but her lipids were still poorly controlled. Due to the patient's early age of onset, the special type of diabetes cannot be excluded, and she is recommended to be further examined in our hospital.

Conclusions: We sequenced the MODY-related genes of the patient and her mother. RFX6 heterozygous frame-shifting variants were found in the proband and her mother (NNM_173560:c.1500delT). The patient was eventually diagnosed with MODY. During the hospitalization, we treated the patient with insulin hypoglycemic treatment, and the patient's blood glucose was stable. Surprisingly, the patient's blood lipid also decreased significantly, and even without using any lipid-lowering drugs, the blood lipid remained at a low level.

Background: Laparoscopic adjustable gastric banding is a safe and effective method in bariatric surgery. Complications, which are relatively rare (10-20%), are related either to the band such as band slippage, pouch dilation, band erosion, intraluminal band migration or to the port-adjustment-tube system such as infection, tube disconnection and dislocation. Dislocation of the adjustment catheter perforating into the colon is extremely rare, our present case is the third publication on this complication.

Case description: In our present case, we report on an asymptomatic patient with intraluminal penetration of the dislodged adjustment tube into the colon 26 years after implantation of a gastric banding system. We revealed the complication randomly by positron emission tomography-computed tomography (PET-CT) in the course of a tumor staging of a newly diagnosed lung cancer. The gastric band was removed laparoscopically, the adjustment tube however, had to be cut through due to extended adhesions and could only partially be removed. The rest of the catheter passed spontaneously via rectum on the following day.

Conclusions: Intraluminal penetration of the dislodged adjustment tube into the colon is extremely rare and may be asymptomatic such as in case of our patient. Other relevant complications after gastric band implantation may also remain undetected. During long-term follow up, occasionally performed imaging should be considered also in asymptomatic patients with implanted gastric banding system.

Background: Switch/Sucrose non-fermentable-related, matrix-associated, actin-dependent regulator of chromatin subfamily B member 1/integrase interactor 1 (SMARCB1/INI1)-deficient lung cancer is a very rare and highly invasive malignant tumor, of which clinicians and pathologists often have limited understanding.

Case description: We present a 54-year-old man with SMARCB1/INI1-deficient lung cancer, pathologically confirmed by computed tomography guided percutaneous pulmonary mass biopsy and ultrasound-guided lymph node biopsy. Both lymphoids and lung tissues showed INI1 deletion and high Ki-67 index; next generation sequencing (NGS) indicated a tumor protein 53 (TP53) mutation abundance of 22.18% and cyclin-dependent kinase 4 (CDK4) amplification (copy number of 4.30). Currently, SMARCB1/INI1-deficient lung cancer is rare, and no standardized treatment plan is available, and there was no clear and effective targeted drug. Considering the high expression of programmed cell death ligand 1 (PD-L1), the patient was advised to undergo treatment with anti-programmed cell death 1 (PD-1) immune checkpoint inhibitors. Unfortunately, because the patient and his family have low financial resources, only afford resident insurance and cannot afford follow-up medical expenses, the patient refused treatment and passed away 3 months after diagnosis.

Conclusions: We provided the clinical symptoms, imaging data, and literature findings of this rare case of SMARCB1/INI1-deficient lung cancer with lymph node metastasis as a reference, hoping to help clinicians and pathologists have a better understanding of it and avoid misdiagnosis.

Background: Non-small cell lung cancer accounts for more than 85% of lung malignancies. Preoperative neoadjuvant therapy is considered to be a method that can improve the long-term prognosis of locally advanced non-small cell lung cancer, and radiotherapy and chemotherapy are the main treatment options. With the continuous discovery of different targets, more and more targeted drugs benefit more patients, but there are few reports on the treatment mode of targeted neoadjuvant combined chemotherapy. In this study, we report a case of targeted combination chemotherapy as a new adjuvant option for locally advanced lung adenocarcinoma, with a view to providing more treatment references for similar patients. ROS proto-oncogene 1 (ROS1) rearrangements are observed in 1-2% of patients with non-small cell lung cancer (NSCLC). It is a clinically rare mutation, and patients with ROS1 fusions have been shown to be highly sensitive to treatment with crizotinib. However, the efficacy and safety of crizotinib combined with neoadjuvant chemotherapy in patients with locally advanced NSCLC remain to be elucidated.

Case description: We report the case of a 49-year-old male who was diagnosed with stage IIIb (N2) lung adenocarcinoma. Next-generation sequencing revealed ROS1 fusions, and crizotinib was given simultaneously with targeted therapy during neoadjuvant chemotherapy. After 3 cycles of chemotherapy, surgery was performed, and the pathological results revealed major pathological response (MPR). Two years later, local and general examinations revealed no evidence of tumour recurrence.

Conclusions: This study highlights the effective exploration of the combination of targeted therapy and chemotherapy in the neoadjuvant treatment mode of locally advanced non-small cell lung cancer. For patients with sensitive genetic mutations, early use may benefit the patient more, just as the most effective time to use a fire extinguisher is when the flame starts.

Background: Transformation into small-cell lung carcinoma (SCLC) is a common acquired resistance mechanism to epidermal growth factor receptor (EGFR) tyrosine kinase inhibitors (TKIs). Re-tumor biopsy is crucial for identifying the definite tumor resistance mechanism. However, multiple mechanisms may occur simultaneously during TKI treatment. A single biopsy specimen is insufficient to accurately represent all resistance mechanisms at progressive sites.

Case description: In this case, we present a 58-year-old male with metastatic pulmonary adenocarcinoma (ADC) who had an EGFR exon 19 mutation and received first-line gefitinib and second-line osimertinib. Biopsy results from different progressive sites confirmed the presence of SCLC in pleural metastatic specimens, while the primary tumor had the EGFR exon 19 mutation and mutations ofPhosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha (PIK3CA) andv-Ki-ras2-Kirsten rat sarcoma viral oncogene homolog (KRAS). We utilized an effective combination therapy of permanent radioactive iodine-125 seed implantation (PRISI) as local consolidative therapy (LCT), along with the standard carboplatin-etoposide regimen for SCLC and continued osimertinib. Extracranial tumors were successfully controlled. The patient succumbed to intracranial disease progression without radiotherapy, with an overall survival (OS) of 15 months after SCLC transformation.

Conclusions: Confirming SCLC transformation from a single site alone through biopsy may not provide a comprehensive understanding of the resistance mechanisms underlying progression at all sites. This highlights the significance of combined treatment strategies, particularly with LCT, for heterogeneous tumors in SCLC transformation.