International Cancer Conference Journal最新文献

We performed a laparoscopic left nephroureterectomy for a patient with primary malignant melanoma of the left ureter. Four months after the surgery, bladder metastasis was observed, and the patient underwent radical cystectomy and cutaneous ureterostomy with pelvic lymph node dissection. One month after the surgery, intra-abdominal lymph node metastasis and pelvic seeding appeared, and the patient received three courses of nivolumab, but the disease progressed. The patient died 10 months after the initial diagnosis.

Pseudocirrhosis refers to morphologic changes of the liver seen radiographically that mimic cirrhosis and arise in the setting of metastatic malignancy. Like true cirrhosis, pseudocirrhosis causes portal hypertension, which can lead to complications such as ascites and esophageal varices. We experienced a case of pseudocirrhosis that occurred during treatment for diffuse liver metastases from breast cancer. Pseudocirrhosis is often caused by diffuse hepatic cancer cell infiltration; however, in this case, it still occurred despite chemotherapy being effective. The shrinkage of liver metastases and subsequent scarring around them causes liver capsule regression, resulting in pseudocirrhotic changes. As a result of treatment for pseudocirrhosis, the once-atrophied liver regenerated and returned to its normal size after a year. Ascites and edema as portal pressure complications also disappeared. During this time, the liver metastases maintained a near-complete response. Cirrhosis accompanied by ascites is usually called "decompensated cirrhosis" and is considered difficult to improve; however, in pseudocirrhosis, the liver can regenerate and the patient can recover. Physicians must be fully aware of this disease.

Autoimmune hemolytic anemia is a rare complication following surgery for recurrent ovarian cancer, with no previously reported cases of postoperative cold agglutinin disease. This report presents a 47-year-old woman who developed cold agglutinin disease after surgery for recurrent ovarian cancer. On postoperative day 7, she experienced severe anemia, renal dysfunction, and elevated bilirubin levels. Hemolysis was initially suspected owing to blood sampling and bleeding; however, autoimmune hemolytic anemia was diagnosed on postoperative day 8 with a positive Coombs test. Despite treatment with steroids, blood transfusions, and hemodialysis, the patient's condition remained unchanged. Cold agglutinin disease was confirmed on postoperative day 10 with a cold agglutinin titer of 512. Heated blood transfusions, along with rituximab and sutimlimab, led to clinical improvement. The patient was discharged on postoperative day 54 and continued on maintenance therapy. Stress from invasive surgery may activate the complement system, triggering cold agglutinin disease. Early diagnosis and treatment are crucial for preventing severe complications.

Lynch syndrome is an autosomal dominant disorder caused by a heterozygous pathogenic germline variant in mismatch repair (MMR) genes including MLH1, MSH2, MSH6, PMS2, and EPCAM. This disease often causes a familial cluster of patients with malignant tumors. In this report, we describe a 37-year-old woman who presented with endometrioid carcinoma in the ovary and uterine corpus associated with Lynch syndrome. She carried two germline pathogenic variants, a recurrently reported MLH1 c.2250C > G (p.Tyr750*) and a previously unreported MSH6 c.2385del (p.Ile795Metfs*15). The tumor cells showed microsatellite instability. Immunohistochemistry for the endometrial tumor showed decreased MLH1 expression, loss of PMS2 expression, retained MSH2 expression, and loss of MSH6 expression, which suggests that both variants impair each protein stability and thus cause MMR deficiency. Whether these variants were inherited from her parents or occurred de novo was unknown. The tumor cells had somatic variants BRCA1 c.1016del and BRCA2 c.36dupT that might be due to secondary mutation by MMR deficiency. The use of an immune checkpoint inhibitor pembrolizumab resulted in durable partial response of metastatic lung tumors. This case reminds clinicians of the rare possibility of multiple germline variants in MMR genes in individuals with Lynch syndrome.

Thalassemia is an inherited hemoglobinopathy characterized by anemia. In Japan, beta-thalassemia occurs in only 1 in 1000 individuals, and reports of thalassemia in patients with breast cancer are extremely rare. We report a case of triple-negative breast cancer in which thalassemia manifested as progressive anemia during neoadjuvant chemotherapy. A Filipino woman in her 40 s with a family history of breast cancer presented with a left breast mass. Physical examination revealed a 2-cm palpable mass in the outer lower quadrant of the left breast. Ultrasonography confirmed a 21-mm irregular hypoechoic mass in the corresponding area with immunohistochemistry indicating a triple-negative phenotype (ER-, PgR-, HER2-negative, Ki-67 index 60%). Pembrolizumab, paclitaxel, and carboplatin were administered every 3 weeks, during which the hemoglobin (Hb) level gradually decreased. Thalassemia was diagnosed based on low pretreatment mean corpuscular volume (67.6 fL), presence of target cells in peripheral blood, and elevated fetal hemoglobin (HbF) levels. Despite the anemia progression, the patient was able to complete the planned chemotherapy regimen with blood transfusion support. This included 4 cycles of pembrolizumab, doxorubicin, and cyclophosphamide. Subsequently, a partial mastectomy plus sentinel lymph node biopsy was performed, and the patient achieved a pathological complete response. This case demonstrates that neoadjuvant chemotherapy for breast cancer can be successfully completed with appropriate blood transfusion support in patients with thalassemia-induced anemia.

Patients with neurofibromatosis type 1 (NF1) have an increased risk of developing breast cancer and other malignancies. During the search for breast cancer metastases in NF1 patients, there is a substantial probability of detecting malignancies other than breast cancer. We present a case of an 80-year-old woman with NF1 who was diagnosed with both invasive ductal carcinoma of the luminal-HER2 type in the breast and a malignant peripheral nerve sheath tumor (MPNST) of the liver. After noticing a lump in her right breast for 2 months, further examination confirmed breast cancer with metastases to the right axillary lymph nodes. A whole-body contrast-enhanced CT scan revealed large hepatic tumors initially suspected to be metastases from breast cancer. However, given the patient's underlying NF1, an ultrasound-guided liver biopsy was performed, which confirmed the diagnosis of MPNST. The patient had a history of surgical resection for the MPNST in the forearm. Due to the high metastatic potential of MPNST, the liver tumors were diagnosed as metastases of the MPNST. She declined chemotherapy for MPNST and is currently receiving endocrine therapy alone for breast cancer. It is necessary to acknowledge the predisposition of patients with NF1 to develop various tumors throughout the body. When performing a systemic evaluation for breast cancer in NF1 patients, any detected lesions should be thoroughly investigated for potential malignancies other than breast cancer metastasis. Biopsy and pathological examinations are useful to ensure an accurate differential diagnosis.

Plasmablastic lymphoma (PBL) is a rare B-cell lymphoma. Reports on primary gastric PBL are limited, and its endoscopic features remain poorly understood. We report a case of gastric PBL with multiple polypoid lesions in an immunocompetent individual. A 72-year-old man presented with upper abdominal discomfort. Esophagogastroduodenoscopy (EGD) revealed multiple raised lesions of variable sizes in the stomach, prompting a tumor biopsy. Based on histopathological findings, diffuse large B-cell lymphoma was suspected. Rituximab, cyclophosphamide, doxorubicin, vincristine, and prednisone (R-CHOP) chemotherapy was administered. After six cycles of R-CHOP therapy, EGD showed a partial reduction of the gastric tumor, and a biopsy was performed on the remaining tumor. Histopathology was re-examined, and immunohistochemical analysis revealed that the tumor cells were plasmablastic and strongly positive for both CD38 and CD138. The cells showed cytoplasmic immunoglobulin lambda light-chain restriction, indicating PBL. Furthermore, gastric differentiated adenocarcinoma was incidentally detected in some biopsy samples. Finally, a total gastrectomy was performed, and the postoperative course was uneventful. The patient is currently alive, 15 months after the initial diagnosis. This case reveals an endoscopic feature of gastric PBL and suggests the rare possibility that gastric PBL may coexist with adenocarcinoma.

Supplementary information: The online version contains supplementary material available at 10.1007/s13691-025-00751-4.

The immune checkpoint system suppresses T-cell activity. Unlike cytotoxic anticancer drugs that directly kill cells, immune checkpoint inhibitors (ICIs) are generally safer by stimulating tumor immunity. However, most clinical trials require patients to have a better performance status (PS), leaving limited evidence for those with poorer PS. In practice, patients may be classified with poor PS due to tumor-induced pain and motor dysfunction, even if major organs remain functional. Real-world data on non-small cell lung cancer has shown no safety difference between patients with PS 3/4 and those with lower PS. Approximately 20-30% of endometrial cancer cases show microsatellite instability-high (MSI-high), the highest among common malignancies. A 46-year-old patient with advanced, recurrent endometrial cancer resistant to standard chemotherapy, and PS of 4 from severe pelvic pain, was diagnosed with MSI-high. Pembrolizumab was initiated and continued for 19 courses, after which lesions had disappeared or calcified, leading to drug discontinuation. Now, 4 and a half years post-treatment, she has regained independent mobility and returned to work, and her PS has improved to approximately 1. Side effects included Grade 2 or lower thyroiditis, hypothyroidism, and hypoadrenalism, manageable with hormone replacement therapy and temporary pembrolizumab suspension. This case underscores the need to test for MSI-high/mismatch repair deficiency in endometrial cancer and to consider ICI therapy in patients with poor PS but no major organ dysfunction. In such cases, ICI can rapidly improve overall condition, a phenomenon known as a Lazarus-type response, as seen in other cancers such as non-small cell lung cancer.

Supplementary information: The online version contains supplementary material available at 10.1007/s13691-025-00752-3.

Patients with advanced duodenal carcinoma typically have a poor prognosis due to limited practical chemotherapy options. While studies on genotype-directed therapy in patients with duodenal carcinoma is progressing, clinical data assessing the efficacy of molecularly targeted therapy remains scarce. We report the case of a 65-year-old woman diagnosed with anaplastic lymphocyte kinase (ALK) fusion-positive advanced duodenal carcinoma. The patient had been treated with alectinib for approximately 2 years for ALK-positive duodenal carcinoma but developed progressive liver metastases, indicating alectinib failure. During the disease progression, circulating tumor DNA (ctDNA) sequencing revealed the emergence of ALK L1196M mutation, which demonstrated sensitivity to brigatinib. After switching to brigatinib, marked shrinkage of liver metastases was observed. The patient maintained brigatinib treatment for 7 months until tumor progression. This is the first report demonstrating the efficacy of brigatinib after alectinib failure in a patient with duodenal carcinoma harboring ALK fusion. Furthermore, this case suggests that ctDNA sequencing can detect specific acquired mutations and help expand optimal treatment options for patients.

Dual tumors, comprising two different types of tumor, are uncommon pathologic findings. Appendiceal goblet cell carcinoid is an unusual and unique subtype of primary appendiceal neuroendocrine tumor defined by the World Health Organization, showing hybrid epithelial-neuroendocrine features. Low-grade mucinous neoplasms are also rare appendiceal neoplasms. However, the relationship between these two types of tumors is not well known. We present the case of a 46-year-old woman with a 5 cm appendiceal cystic tumor that was incidentally detected on abdominal computed tomography. She showed no abdominal symptoms, enlarged lymph nodes, or obvious distant metastases. Laparoscopic ileocecal resection was performed without complications or tumor injury. No disseminated lesions or mucus accumulation was found in the abdominal cavity during the operation. Pathologic examination revealed low-grade mucinous tumor cells lining the cystic mucosal cavity and a chromogranin A-positive goblet cell carcinoid near the mucinous cell components. As there was no mixture of the two cell types, the tumor was suspected of a collision tumor. Although reports on appendiceal collision tumors are limited, these two tumor types might arise from different types of progenitor cells. Furthermore, the laparoscopic approach, which allows for a more detailed and safer observation of the entire abdominal cavity, could be useful for accurate staging and treatment decisions in mucinous appendiceal tumors at risk of intraperitoneal mucinous dissemination and peritoneal pseudomyxoma. Accumulation of case reports of such dual tumors and analysis at the molecular and cellular level are necessary to elucidate their pathogenesis and development.