Case Reports in Oncological Medicine最新文献

Introduction: Neuroendocrine/small-cell prostate cancer (NEPC) is a rare and aggressive subtype of prostate cancer, which typically develops after prolonged treatment for metastatic castration-resistant disease, but can, less commonly, occur de novo. Case Presentation: We describe a case of de novo NEPC in a tumor with mixed pathology including acinar adenocarcinoma and neuroendocrine/small-cell carcinoma with rapid progression of metastatic disease. Despite initiation of treatment with androgen deprivation therapy (ADT) and chemotherapy, the patient continued to exhibit progression leading to multiple complications including a large bowel obstruction and ultimately progressive hepatic metastases resulting in liver failure. Conclusion: This case illustrates the clinical presentation and highly aggressive nature of de novo NEPC. Recognizing atypical clinical progression in prostate cancer is critical for the detection of NEPC; however, despite early identification and initiation of treatment, the prognosis remains poor, thus highlighting the need for further study into NEPC biology and novel therapeutic approaches.

This study examines a unique case of a 61-year-old male with a 5-year history of a progressively growing mass above his right shoulder, diagnosed as a dedifferentiated pleomorphic liposarcoma. Using computerized tomography-guided core needle biopsy, the tumour was identified as intermediate to high grade. Surgical removal required preoperative radiotherapy to reduce the size of the tumour. Several unique characteristics set apart this particular case of liposarcoma: its substantial size, its unpredictable growth pattern, its absence of metastasis, and notably, its prolonged period of being untreated. This case report outlines the clinical background, diagnostic procedures, and treatment modalities employed in managing this condition, emphasizing a localized dual therapy approach combining radiotherapy and surgery. Emphasis is placed on distinguishing liposarcoma from lipoblastoma, a benign adipocyte tumour, to facilitate accurate diagnosis and appropriate treatment selection. The positive result achieved in this case could provide valuable insights for the future treatment and management of similarly sized aggressive tumours.

Uterine metastases from extragenital sites are rare. We present a case of a woman who had undergone surgery for small intestinal cancer and subsequently developed metastases in her left ovary and uterus. A nulliparous woman in her 50s underwent laparoscopic partial small bowel resection with lymph node dissection for small intestinal cancer. Five months later, computed tomography (CT) revealed a left ovarian tumor and ascites. She underwent bilateral adnexectomy and adjuvant chemotherapy, and the ovarian tumor was diagnosed as a small intestinal cancer metastasis. Two years after the small intestinal cancer surgery, a positron emission tomography (PET)-CT scan revealed a uterine accumulation. Cervical cytology was negative for intraepithelial lesion or malignancy. Endometrial histology showed an adenocarcinoma of the uterus. The patient underwent total abdominal hysterectomy followed by adjuvant chemotherapy. Histopathology and immunohistochemistry of the uterine tumor revealed that it was a metastasis of small intestinal cancer (Cytokeratin 7 [CK7] [-], Cytokeratin 20 [CK20] [+], Special AT-Rich Sequence-Binding Protein 2 [SATB2] [+], Paired Box Gene 2 [PAX2] [-], and estrogen receptor [ER] [-]). In patients with cancer, histopathology and immunohistochemistry are important for distinguishing between primary and metastatic tumors and for guiding the choice of treatment.

Desmoid tumors (DTs) are rare and locally aggressive with a high rate of local recurrence even with optimal surgical resection. Systemic treatments are often utilized for desmoid cases with high risk of surgical morbidity or for local and symptomatic control of recurrent disease. However, the systemic treatment options for DTs are limited with limited responses. Avapritinib is a tyrosine kinase inhibitor (TKI) approved in 2020 for adults with unresectable or metastatic gastrointestinal (GI) stromal tumors (GISTs) harboring a platelet-derived growth factor receptor alpha (PDGFRA) Exon 18 mutation, including D842V mutations. In this case report, we describe a 55-year-old man with a history of D842V-mutant gastric GIST who presented several years after complete resection of the GIST with an enlarging soft tissue mass in the small intestine. After a nondiagnostic biopsy, the patient was started on avapritinib due to concerns for recurrent D842V-mutant GIST. The tumor had a partial response to treatment by RECIST 1.1 criteria, and the patient underwent surgical resection. The final pathology report revealed a sporadic DT. To our knowledge, this is the first known description of the activity of avapritinib in the treatment of a sporadic mesenteric DT, which is relevant given the limited treatment options for patients with this diagnosis. This clinical finding may be worth exploring in a dedicated clinical trial.

Pseudomyxoma peritonei (PMP) is a well-known entity in gastrointestinal and ovarian tumors of mucinous histology. It has important implications on prognosis depending on whether seen in conjunction with a benign or a malignant tumor. In the current report, we describe a case of PMP in a case of advanced endocervical adenocarcinoma of the cervix which was managed surgically.

Pediatric chronic myeloid leukemia (pCML) is a rare malignancy accounting for only 2%-3% of all childhood leukemias. Due to this rarity, familiarity with pCML is limited among most pediatric practitioners, including even pediatric hemato-oncologists. In low- and middle-income countries (LMICs), limited financial resources and limited data specific to pCML represent obstacles that healthcare providers must face in diagnosing and treating this rare condition in children. The International CML Foundation (iCMLf) is improving outcomes for people with CML in these countries where resources, diagnostics, and access to medicines may be limited (https://www.cml-foundation.org/lmic-programs.html). Virtual meetings with the purpose of teaching participating pediatricians from LMICs of defined geographical regions were organised by the iCMLf in 2023. At a virtual meeting of the South Asia region, the case of a 14-year-old Indian boy was presented diagnosed with CML in a chronic phase complicated by priapism and loss of vision in his left eye due to hyperleukocytosis. Key aspects of this case are discussed in-depth from the perspective of (i) a pediatric hemato-oncologist practicing in a high-income country, (ii) a pediatric hemato-oncologist practicing in a LMIC, (iii) an adult CML hematologist, and (iv) from the iCMLf in improving the care of children with CML worldwide. Thus by discussing a multifaceted complicated case of pCML in written form as well as pointing to the pediatric module of the iCMLf Knowledge Centre will hopefully contribute to minimize existing knowledge gaps in a rare pediatric malignancy.

Primary mandibular telangiectatic osteosarcomas are very rare lesions, with only nine cases reported. Histologically, these lesions show multiple cystic blood-filled cavities traversed by neoplastic bone in septa lined by high-grade malignant cells. Here, we report an 81-year-old woman who presented with a mandibular mass, which was surgically resected and analyzed by histologic examination and whole exome DNA sequencing. A diagnosis of telangiectatic osteosarcoma was given. Comparative sequencing data analysis of paired benign and tumor DNA revealed 1577 variants unique to the tumor DNA, which clustered into several gene families, including those regulating DNA repair and apoptosis. Comparison of benign and tumor DNA revealed many shared gene polymorphisms associated with an increased cancer risk. These included polymorphisms in the ATM, p53, BRCA1, and BRCA2 and many other genes. Interestingly, the patient's family history showed an unusually high cancer incidence, likely related to these cancer risk-associated polymorphisms. To our knowledge, this is the first-time sequencing applied to a mandibular telangiectatic osteosarcoma. Our findings may shed light on the molecular origins of these rare tumors and how they may relate to other tumors in related kindreds.

Paragangliomas are rare neuroendocrine tumors that arise from the paraganglia, which are clusters of neuroendocrine cells associated with the autonomic nervous system. These tumors are commonly found in the adrenal medulla but can also occur in other locations outside the adrenal gland. Here, we present a case report of a slow-growing paraganglioma in the left neck with spinal metastasis in a 60-year-old man. This case highlights the importance of considering paraganglion tumors in the differential diagnosis of neck masses and the need for early diagnosis and management to prevent potential complications. Importantly, both the clinical picture and anatomical location of these tumors is important when determining treatment plans.

Background: Though mycosis fungoides (MF) is the most common type of cutaneous T-cell lymphoma (CTCL), it has no curative treatment. The aim of current topical and systemic treatment is centered around relieving symptoms and optimizing disease-free time. The use of surgical management to achieve the same goals of symptomatic reduction is not well described in the current literature. Methods: We present a case of refractory MF that failed chemotherapy, radiotherapy, and UV light therapy. Despite medical management, the tumor burden progressed to significant compression neuropathy of the ulnar and median nerves. Results: To reduce tumor burden and attempt to provide symptomatic relief, a surgical plan was developed to include radical resection of the tumor of the left upper extremity (LUE) with release of the cubital tunnel, carpal tunnel, Guyon canal, and coverage with split-thickness skin graft. The patient reported decreased symptomatology interfering with her daily activities and, overall, a better quality of life postoperatively. Conclusion: Surgical intervention, in addition to established medical standards of care, for symptomatic relief of compression neuropathy from tumor mass effect for refractory CTCL should be considered to achieve quality of life goals for patients.

Immune checkpoint inhibitors have drastically improved cancer treatment. However, they may induce immune-related adverse events (irAEs). Here, we report a case of significantly delayed rheumatic irAEs (Rh-irAEs) with prior possible temporary neutropenic irAEs in a patient with atezolizumab-treated non-small-cell lung cancer and its management. A man in his sixties received atezolizumab monotherapy as the sixth-line treatment. He experienced an infusion-related reaction (fever) during the first cycle. On day 22 of cycle 2, grade 4 neutropenia suddenly appeared, but it disappeared on the next day. Cycle 3 was initiated after seven days; the patient did not exhibit any symptoms for approximately 500 days. However, on day 534 (day 1 of cycle 21), the patient complained of pain in the shoulders, back, and wrists. On day 644, the shoulder and back pain worsened with obvious swelling of the fingers. We thus suspended treatment and consulted a rheumatologist. A diagnosis of polyarthritis with active tenosynovitis was made based on joint ultrasound and laboratory tests. Prednisolone 15 mg attenuated the symptoms, allowing suspension of analgesics; however, dose reduction from 15 mg/day was difficult because of symptom flares. Finally, iguratimod 25 mg twice daily was initiated on day 764; prednisolone was reduced to 10 mg without flares, and its dosage was slowly reduced to 5 mg/day. Although irAEs exhibit multisystem features, delayed development of polyarthritis with active tenosynovitis after possible temporary neutropenic irAEs is rare. Thus, irAEs need to be monitored for a long time in patients with suspected irAE development even if it appears transiently.