International Cancer Conference Journal最新文献

We present a case of advanced gastroesophageal junction adenocarcinoma initially diagnosed as Human epidermal growth factor receptor 2 (HER2)-negative based on immunohistochemistry (IHC) of a metastatic lymph node biopsy. The patient developed progressive disease despite multiple lines of systemic chemotherapy. Comprehensive genomic profiling (CGP) performed on archived primary tumor tissue revealed high-level ERBB2 amplification. Reassessment of HER2 status using IHC on the primary tumor confirmed strong HER2 overexpression (IHC 3+). Based on this finding, the patient was treated with trastuzumab plus FOLFOX followed by trastuzumab deruxtecan (T-DXd), achieving a durable response. Notably, the esophageal stricture caused by cervical lymphadenopathy resolved completely, and the patient remained progression-free for over 21 months with T-DXd therapy. This case highlights the clinical significance of intratumoral HER2 heterogeneity and underscores the importance of reassessing biomarkers in patients with refractory disease. It also illustrates the potential role of CGP in identifying overlooked therapeutic targets and guiding subsequent treatment decisions in gastric cancer. CGP may serve as a useful adjunct to conventional diagnostics, particularly when initial testing is inconclusive or based on metastatic tissue.

Wilms tumor primarily occurs in children and is extremely rare in adults, with very limited reports. No standardized diagnostic pathway or treatment protocol exists for adult Wilms tumor, especially in elderly patients. We present a case of an 80-year-old man who presented with appetite loss and abdominal bloating, and was diagnosed with WT1-positive Wilms tumor on the basis of contrast-enhanced computed tomography and biopsy findings, including immunohistochemical analysis. Palliative radiation therapy was initiated. However, the tumor rapidly progressed, and the patient died shortly. Autopsy revealed a large mass around the right kidney with multiple organ metastases, and histology confirmed an unfavorable type. To clarify its clinical features, we reviewed the literature dating back to 1975 through PubMed and identified 11 reported cases of patients aged 70 years or older. More than half had an unfavorable histology, and only three survived more than one year after treatment. There were four cases of surgical or treatment-related mortality. Although pediatric protocols, such as the National Wilms Tumor Study, are recommended for adult cases, application in elderly patients remains challenging. Strategies tailored to this population are needed, taking into account poor prognosis as well as comorbidities and performance status.

Pseudoaneurysm following robot-assisted radical prostatectomy is an infrequent complication. We present a rare case of gross hematuria caused by a pseudoaneurysm. A 76-year-old man was diagnosed with prostatic adenocarcinoma and underwent robot-assisted radical prostatectomy. On postoperative day 9, he presented with gross hematuria and clot retention, accompanied by anemia. Bladder irrigation was performed, resulting in improvement of the hematuria. Contrast-enhanced computed tomography revealed a pseudoaneurysm. As his hematuria improved and his vital signs remained stable, angiography was performed on postoperative day 10. This revealed a pseudoaneurysm arising from the prostatic artery, which was successfully treated with transcatheter arterial embolism. His postoperative course was uneventful, and he was discharged on postoperative day 14. Pseudoaneurysm after robot-assisted prostatectomy is rare but important to consider in patients with delayed hematuria. Early diagnosis and embolization can lead to good outcomes.

Uterine leiomyosarcoma (ULMS) is a rare gynecological malignancy with a high recurrence rate and poor prognosis. No standard treatment exists for recurrent cases. Recent studies indicate that homozygous BRCA2 deletion may serve as a therapeutic target in non-BRCA-associated malignancies, including ULMS. Here, we report a 49-year-old woman with recurrent BRCA2-deficient ULMS who responded to carboplatin monotherapy. Although PARP inhibitors have been utilized in BRCA-mutated ULMS, this case underscores the potential efficacy of platinum-based chemotherapy as an alternative treatment strategy. Furthermore, a therapeutic approach integrating platinum-based chemotherapy followed by PARP inhibitor maintenance, similar to that employed in platinum-sensitive ovarian cancer, warrants further investigation.

Panitumumab, an anti-epidermal growth factor receptor (EGFR) antibody, is a standard drug used in patients with RAS wild-type (WT) metastatic colorectal cancer (mCRC). Studies have reported that the KRAS mutation is a negative predictive biomarker; however, EGFR gene amplification may be a predictive biomarker for the response to anti-EGFR antibodies. We encountered two patients with EGFR gene amplification (one with KRAS mutation) who responded to panitumumab monotherapy after failure of standard chemotherapy. Case 1 was an 85-year-old woman with RAS WT transverse colon cancer with liver metastases. After receiving capecitabine monotherapy as first-line therapy, S-1 plus irinotecan plus bevacizumab therapy as second-line, trifluridine/tipiracil (FTD/TPI) monotherapy as third-line, and regorafenib monotherapy as fourth-line therapy, the patient received panitumumab monotherapy as fifth-line therapy. After that, comprehensive gene panel testing showed EGFR gene amplification. This therapy continued for 6.9 months without progressive disease (PD), and liver metastases shrank by up to 72%. Case 2 was a 65-year-old man with RAS WT (initially) sigmoid colon cancer and multiple liver metastases. After receiving mFOLFOX6 plus panitumumab therapy as first-line therapy, FOLFIRI plus bevacizumab as second-line, he underwent conversion surgery. After 3 months, multiple liver metastases were detected on CT scan, then, comprehensive gene panel testing was done, and it showed high tumor mutational burden (TMB) and EGFR amplification. As third-line therapy, he received pembrolizumab monotherapy. After PD for pembrolizumab, OncoBEAM™ was done and it showed neo-RAS mutation. Regardless of that result, panitumumab was resumed as a fourth-line treatment and administered for 5.2 months without PD; liver metastases shrank by up to 50%. We encountered two patients with mCRC and EGFR gene amplification who responded to panitumumab monotherapy. EGFR gene amplification may be a potential biomarker for anti-EGFR antibodies, regardless of RAS status.

Penile cancer is a rare malignancy, with squamous cell carcinoma (SCC) being the predominant histological type. Mucoepidermoid carcinoma (MEC) of the penis is an extremely rare variant, making its clinicopathological features and prognosis poorly understood. We report the case of an 87-year-old man who presented with penile swelling and an ulcerative lesion. An initial biopsy initially suggested SCC. However, histopathological analysis of the total penectomy specimen revealed features consistent with MEC, characterized by a mixture of mucin-producing squamoid and intermediate cells. The tumor appeared to originate from the transitional zone between the prepuce and glans. Importantly, molecular analysis did not detect the CRTC1/CRTC3-MAML2 fusion gene, a finding potentially associated with a poorer prognosis. This case highlights a rare and challenging diagnosis of penile cancer. The absence of the common MEC-associated fusion gene may indicate a more aggressive clinical course. Further accumulation of cases with detailed molecular characterization is crucial to clarify the pathogenesis, behavior, and optimal management strategies for this rare entity.

Endometrial cancer is generally associated with a favorable prognosis when detected at an early stage and treated appropriately, especially in young women receiving fertility-sparing therapy. However, rare cases may exhibit unexpected aggressive progression driven by novel genetic alterations.A 38-year-old woman was diagnosed with stage IA endometrial endometrioid carcinoma grade 1, based on pathologic examination by endometrial curettage, magnetic resonance imaging, and computed tomography scans. The tumour progressed systemically during fertility-sparing treatment and she died on day 112. Pathologic examination of the liver metastasis revealed that the tumour was morphologically different from the endometrial tumour and was oestrogen receptor-negative, chromogranin A-positive, and synaptophysin-positive on immunohistochemistry, leading to the diagnosis of neuroendocrine carcinoma. Gene panel testing identified TMEM178B-BRAF fusion and subclonal PIK3CA mutations in the liver metastasis, in addition to ARID1A and CTNNB1 mutations that were shared with the endometrial tumour. This is the first report of an endometrioid carcinoma transforming into a high-grade neuroendocrine tumour associated with TMEM178B-BRAF fusion.

We present a case highlighting the importance of monitoring patients with leiomyoma degeneration undergoing long-term local hormonal therapy using a levonorgestrel-releasing intrauterine system (LNG-IUS). Retrospective ultrasonographic observations over 7 years revealed sequential changes in a mass at the exact location, allowing early detection of malignancy. Histological examination confirmed that malignant leiomyosarcoma cells have replaced benign smooth muscle cells. This finding underscores the need for advised monitoring of LNG-IUS users, particularly in patients with leiomyoma degeneration changes. Further research is warranted to investigate the potential association between prolonged use of LNG-IUS and the development of leiomyosarcoma. To our knowledge, this is the first reported case of leiomyosarcoma arising during the insertion of an LNG-IUS.

The upper gastrointestinal tract is a relatively rare site for immune-related adverse events (AEs) associated with immune checkpoint inhibitor treatment. A 79-year-old Japanese male with relapsed hypopharyngeal carcinoma after curative surgery with free-jejunum reconstruction and postoperative irradiation developed multiple lung metastases invading the mediastinum. Four months after the anti-PD-1 inhibitor pembrolizumab was initiated, repeated bleeding episodes occurred in the tracheostoma and mouth. Tumor progression, collapse, and bleeding were not observed on CT. Esophagogastroduodenoscopy identified erosion of the reconstructed free jejunum and esophageal mucosal injury (diagnosed as an immune-related AE) as the bleeding source. A corticosteroid (methylprednisolone) was introduced, resulting in a rapid response. Considering the risk of esophageal perforation/bleeding and the patient's age, best supportive care and the termination of systemic chemotherapy were recommended. Acute esophagitis as irAE can be fatal, necessitating its early differentiation and corticosteroid treatment. Further clarification of the predilection and time course of this AE is warranted.

Lanreotide is a synthetic polypeptide analog of somatostatin that is used to treat gastroenteropancreatic neuroendocrine tumors (NETs). Although granulomatous inflammation is caused by a variety of conditions, lanreotide acetate subcutaneous injection-induced granulomatous inflammation has not been reported. A 53-year-old woman was underwent extirpation for NET on the anterior surface of pancreatic head. The pathological findings revealed that the resected specimen mainly consisted of lymph-node metastasis and diagnosed NET of unknown primary origin. Because there was a possibility of remnant of the primary tumor and a high risk of recurrence, she began monthly lanreotide acetate subcutaneous injections 1 month after NET surgery. Diffusion-weighted whole-body imaging with background signal suppression revealed a subcutaneous nodule with a high signal in the left buttock 2 months after surgery, which was suggestive of NET subcutaneous metastasis. A computed tomography scan 5 months after surgery revealed multiple subcutaneous nodules on the buttocks bilaterally. Because the number of subcutaneous nodules on the buttocks increased over time, an excisional biopsy of the nodule was obtained. The subcutaneous nodule was diagnosed as granulomatous inflammation based on the histopathologic evaluation. Clinicians should be aware that subcutaneous injection of lanreotide acetate may cause granulomatous inflammation, resulting in subcutaneous nodules that may be misdiagnosed as subcutaneous metastases.