International Cancer Conference Journal最新文献

An octogenarian male underwent upper gastrointestinal (UGI) endoscopy for an annual surveillance program, which identified a 12 mm type 0-IIa lesion on the posterior wall of the gastric fornix. An endoscopic biopsy was performed, raising suspicion for malignancy. Subsequent endoscopic submucosal dissection (ESD) was conducted, and the final histopathological diagnosis confirmed fundic gland-type gastric adenocarcinoma. The tumor exhibited submucosal invasion to a depth of 1000 μm. No evidence of vascular invasion or residual malignant cells at the resection margins was observed. The patient decided to undergo additional proximal gastrectomy to rule out lymph node metastasis. Laparoscopic proximal gastrectomy was performed, and histopathological evaluation revealed no residual carcinoma at the ESD scar and no evidence of lymph node involvement. However, ten additional lesions of fundic gland-type gastric adenocarcinoma were identified, two of which demonstrated submucosal invasion. Biannual follow-up with endoscopy and contrast-enhanced computed tomography has been performed postoperatively. The patient has remained free of recurrence for three years.

Introduction: Pancreatic cancer may invade the colon, resulting in bowel obstruction and requiring the patient to undergo colostomy. Open surgery is often the treatment of choice for patients with colostomy, but we successfully and safely performed a robot-assisted distal pancreatectomy.

Case presentation: The patient was a 55-year-old woman diagnosed with pancreatic tail cancer invading the left kidney and transverse colon. She underwent a transverse colostomy because of a colonic obstruction associated with colon invasion. She then received gemcitabine plus nab-paclitaxel, followed by modified FOLFIRINOX. After imaging confirmed tumour shrinkage, a robot-assisted distal pancreatectomy, transverse colon resection, and colostomy closure were planned. A partial colon resection, including colostomy, was performed first. As a result, robot-assisted surgery was possible with the usual field of view and port placement. During this procedure, the pancreatic tail, spleen, transverse colon (including invasive pancreatic cancer lesion), left adrenal gland, and part of the left kidney were resected en bloc. Finally, reconstruction of the colon was performed. The patient recovered well postoperatively and was discharged on postoperative day 9 with no complications. The patient has been recurrence-free for 2 months after surgery.

Conclusion: This case demonstrates that robot-assisted distal pancreatectomy is feasible in selected patients with pancreatic cancer and prior colostomy.

Palbociclib is a cyclin-dependent kinase (CDK) 4/6 inhibitor that has demonstrated in combination with fulvestrant longer progression-free survival in the setting of advanced breast cancer. Although palbociclib has a relatively favorable toxicity profile, several cardiovascular events have been described including cardiomyopathy. However, adequate management of cardiotoxicity in this setting remains unclear. A 55-year-old female patient with metastatic breast cancer was admitted due to heart failure after finishing chemotherapy with palbociclib. Transthoracic echocardiography (TTE) showed a left ventricular ejection fraction (LVEF) of 30% and severe mitral regurgitation (MR). Under the suspicion of cardiomyopathy temporally associated with prior palbociclib treatment, quadruple therapy with angiotensin receptor-neprilysin inhibitor (ARNI), betablockers, mineralocorticoid receptor antagonist (MRA), and sodium-glucose cotransporter 2 inhibitor (iSLGT2) was initiated. Three months after medical therapy, the patient recovered LVEF up to 56%, and there was not MR on control TTE. This case illustrates that quadruple therapy for heart failure may be a viable option to achieve complete LVEF recovery in a case of cardiomyopathy occurring after palbociclib exposure.

Solitary liver metastasis is an uncommon presentation of metastatic testicular cancer. This report details the case of a 16-year-old boy who presented with high fever and slight enlargement of the left testicle. Imaging revealed para-aortic regional lymph node swelling and a large liver mass occupying most of the left lobe. Left radical inguinal orchiectomy was performed, followed by liver biopsy to distinguish between a primary tumor and distant metastasis. Histopathological analysis confirmed a mixed non-seminomatous germ cell tumor with liver metastasis. The patient underwent four cycles of combination chemotherapy with bleomycin, etoposide, and cisplatin, followed by two additional cycles of etoposide, ifosfamide, and cisplatin, until tumor marker negativity was confirmed. Despite chemotherapy, clinically significant residual masses remained in the regional lymph nodes and liver. Detailed imaging evaluation suggested that liver metastasis had occurred through mesenteric vein infiltration by para-aortic lymph node metastasis. Retroperitoneal lymph node dissection was performed, revealing no evidence of malignancy, followed by liver metastasectomy. The patient achieved complete remission and has remained recurrence-free for 4 years since multimodal therapy. Even in the cases of liver metastases associated with poor prognosis, a comprehensive therapeutic approach that considers the metastatic pathway can achieve curative outcomes.

Choriocarcinoma occurs in the uterus and various other organs, including liver, lungs, and brain. Depending on the site of onset, early identification is difficult due to non-specific or an asymptomatic presentation. Moreover, choriocarcinoma may be detected when the tumor grows considerably or ruptures. We encountered a case in which hepatic metastasis ruptured, leading to hemorrhagic shock. The rupture occurred after the initiation of etoposide, methotrexate, actinomycin D, cyclophosphamide, vincristine (EMA/CO) therapy for choriocarcinoma of unknown primary origin with multiple metastases in the liver, lungs, and peritoneal cavity. Hemostasis was achieved by hepatic artery embolization. EMA/CO therapy was resumed 10 days after the embolization. The patient was deemed to be in remission after 28 cycles, and the treatment was completed after 33 cycles. It may be necessary to consider emergency responses through multidisciplinary/inter-professional collaboration and appropriate length of hospitalization for patient observation. Furthermore, the possibility of lesion rupture due to tumor necrosis should be taken into account for large tumors and high serum human chorionic gonadotropin.

Primary intramedullary spinal cord lymphoma (PISCL) is a rare subtype of primary central nervous system lymphoma (PCNSL) that mimics other myelopathies, often leading to delayed diagnosis. Histopathological confirmation via spinal biopsy is the gold standard; however, spinal biopsies carry considerable risks. The myeloid differentiation primary response gene 88 (MYD88) L265P mutation is highly specific for PCNSL and can be detected in the cerebrospinal fluid (CSF) by liquid biopsies. However, the utility of detecting MYD88 L265P mutation in diagnosing PISCL still remains unclear. A 76-year-old woman presented with progressive right leg weakness, sensory deficits, and bowel and bladder dysfunctions. Spinal magnetic resonance imaging (MRI) revealed an intramedullary lesion from C7 to T12. Although the elevated levels of interleukin-10 and soluble interleukin-2 receptor in the CSF were suggestive of a lymphoma, flow cytometry failed to provide a definitive diagnosis. The MYD88 L265P mutation was detected in the CSF. PISCL was diagnosed based on the results of the liquid biopsy, which was performed instead of a spinal biopsy owing to the associated risks of the latter. Treatment with rituximab, high-dose methotrexate, and focal radiotherapy was initiated. Posttreatment MRI showed lesion size reduction, and the MYD88 mutation was undetectable in the CSF. However, the patient's neurological deficits persisted despite tumor control, and she died 6 months later due to general clinical deterioration. Our case demonstrates that the detection of MYD88 mutations in the CSF can serve as a noninvasive diagnostic tool for PISCL, enabling early treatment while avoiding the risks associated with spinal biopsies. Liquid biopsy of the CSF provides a promising alternative for diagnosing PISCL. However, further studies are needed to validate the clinical utility of this diagnostic approach.

Primary central nervous system lymphoma (PCNSL) is an aggressive non-Hodgkin lymphoma with a poor prognosis, with a 5-year survival rate of 23-42%. Relapse occurs in 35-60% of patients within 1-2 years, and no standard treatment exists for recurrent PCNSL. Tirabrutinib, a second-generation BTK inhibitor, is used for recurrent PCNSL treatment in Japan, but its efficacy in rechallenge therapy remains uncertain. A 75-year-old man presented with gait disturbance, dysarthria, and ataxia. MRI revealed a contrast-enhancing lesion in the right cerebellar hemisphere, and a biopsy confirmed PCNSL. He achieved a complete response with rituximab and high-dose methotrexate, but recurrence occurred a year later in the left frontal lobe. Tirabrutinib induced remission for six months before a new recurrence in the right frontal lobe. After craniotomy with tumor biopsy reconfirmed PCNSL, he underwent rituximab, methotrexate, procarbazine, and vincristine followed by high-dose cytarabine, achieving remission. A third recurrence led to a tirabrutinib rechallenge, and remission lasted five months. He ultimately developed leptomeningeal disease and received best supportive care before passing away three months later. This case highlights the potential of tirabrutinib rechallenge in recurrent case of PCNSL. Further studies are necessary to evaluate its prognostic value in PCNSL management.

Recently, the first case of a novel DEK-AFF2 fusion has been identified in nonkeratinizing squamous cell carcinoma (SCC) of the sinonasal tract with an exceptional response to pembrolizumab. Here we present the case of a 71-year-old female with metastatic poorly differentiated SCC of the sinonasal cavity with a DEK-AFF2 fusion. She initially received pembrolizumab monotherapy as first-line treatment, but the disease progressed after two months. Subsequent treatment with paclitaxel plus cetuximab also led to disease progression after two months. She was enrolled in the SCRUM-Japan MONSTAR-SCREEN-2, a nationwide molecular profiling project. Tumor tissue samples were analyzed using whole exome and transcriptome sequencing (WETS). WETS of a pretreatment tissue specimen revealed DEK-AFF2 fusion and APC pathogenic variant (p.G1677fs), and HLA genotype HLA-A*02:06/24:02, HLA-B*39:04/54:01, and HLA-C*01:02/07:02. Third-line therapy with 5-FU, carboplatin, and pembrolizumab achieved a partial response, but disease progression occurred after nine months. In tissues obtained from pancreatic metastases, acquired amplification of MYC (copy number 8.7) was detected in addition to DEK-AFF2 fusion and APC mutation. These findings suggest that the lack of benefit from pembrolizumab despite the presence of DEK-AFF2 fusion may be due to the HLA haplotype being different from one reported to be associated with efficacy. Additionally, acquired MYC amplification may contribute to resistance to chemotherapy and pembrolizumab. These findings underscore the importance of personalized treatment strategies in SCC patients with specific genomic alterations.

We report the first documented case of primary ovarian clear cell carcinoma harboring an ETV6::NTRK3 fusion gene. A 49-year-old woman presented with a rapidly growing ovarian cyst that was diagnosed as stage IC1 clear cell carcinoma following primary debulking surgery. Molecular analysis revealed an ETV6::NTRK3 fusion gene, confirmed by RT-PCR and Sanger sequencing. The tumor also contained an ARID1A variant (p.P1326Rfs*155), exhibited low tumor mutation burden (3.7 Muts/Mbp), and showed stable microsatellite status. Following standard surgical and chemotherapeutic treatment, the patient remained disease-free at 2.5 years post-surgery. This case demonstrates that NTRK fusion gene, in conjunction with ARID1A mutation, may contribute to clear cell carcinoma development, highlighting the need for further investigation into the prevalence and significance of NTRK fusions in ovarian clear cell carcinomas. The identification of this actionable genetic alteration provides potential targeted therapeutic options should disease recurrence occur.

The role of chemotherapy in pleomorphic xanthoastrocytomas (PXA) remains unclear. Although molecular targeted therapy against the driver gene BRAF has been recently explored, evidence of its efficacy and post-treatment course is limited. Here, we present a case of grade 3 PXA that exhibited malignant progression following transient remission with BRAF-targeted therapy, accompanied by the emergence of multiple genetic alterations. A 22-year-old woman presented with a sudden headache and was diagnosed with a hemorrhagic lesion infiltrating the right temporal lobe and insula. Subtotal resection revealed grade 3 PXA. Conventional radiotherapy combined with temozolomide proved ineffective. After multigene panel testing (MGPT) identified BRAF V600E mutation, the patient underwent combination therapy with dabrafenib and trametinib. Although the residual tumor initially shrank significantly, recurrence occurred 16 months later. Despite salvage surgery and continued BRAF-targeted therapy, the tumor progressed, and the patient passed away 25 months after diagnosis. In-house MGPT of the recurrent tumor revealed BRAF amplification and other multiple abnormalities in the MAPK, TP53, RB, and mismatch repair pathways. This is the first reported case of multi-oncogenic pathway alterations following BRAF-targeted therapy in PXA. These genetic abnormalities likely contributed to the tumor's drug resistance and aggressive progression in this case.