Case Reports in Oncological Medicine最新文献

Large cell neuroendocrine carcinoma (LCNEC) is a rare, aggressive cancer primarily found in the lungs but can also occur in other organs. It is characterized by rapid progression and high metastatic potential. We present a case of advanced-stage LCNEC lung in a patient with a poor performance status (PS), requiring oxygen support. Imaging revealed a large right upper lobe mass, lymphadenopathy, with bronchial encasement and invasion into the superior vena cava, leading to SVC syndrome and pleural effusion. Biopsy and immunohistochemistry confirmed LCNEC. Due to the patient's poor PS, treatment began with low-dose single-agent chemotherapy (carboplatin), followed by etoposide and cisplatin after improvement. Local radiation was also administered, and the treatment plan was adjusted to include atezolizumab. After 10 cycles, the patient achieved complete remission, sustained for 6 years. This case highlights the complexities of managing advanced LCNEC in a geriatric patient and the effectiveness of a multidisciplinary approach and immunotherapy.

Pediatric chronic myeloid leukemia (pCML) is a rare malignancy that nowadays is treated upfront with tyrosine kinase inhibitors (TKIs). As demonstrated in adult CML patients, achieving deep molecular response (DMR) and maintaining this status over 2 years results in the opportunity to discontinue TKI therapy. Following cessation, this treatment-free remission (TFR) status is successfully achieved by approximately 50% of the patients, while the other half experience molecular relapse within ≤ 6 months, requiring a TKI restart. As pCML accounts for only 2%-3% of all childhood leukemias, experience and familiarity with this disease, especially with stopping attempts, are still very limited. Small pCML cohorts enrolled in stopping TKI trials, with strict criteria applied for both depth and maintenance of DMR, have demonstrated the achievable TFR success rates seem comparable to adults. However, recommendations for considering TFR in pCML have yet to be defined. We report on a 9-year-old Brazilian boy diagnosed with CML in a chronic phase. He was treated with imatinib and achieved a molecular response (BCR::ABL1 transcript rate < 0.1%) at Month 12. Not achieving DMR, he responded well, but not optimally, to TKI therapy. Contrary to existing guidelines on TKI cessation in adults, after 9 years, imatinib was stopped. With a follow-up of 24 months, the patient is in TFR and now maintains DMR successfully. With the support of the International CML Foundation (iCMLf), which aims to improve outcomes for CML patients globally, this rare case from Brazil is discussed from the perspective of a pediatric hemato-oncologist from a high-income country, a pediatric hemato-oncologist from a low- and middle-income country, an adult CML hematologist, and the treating physician. Sharing cases of pCML in LMICs and highlighting the resources offered by the iCMLf, particularly the Knowledge Center (available online), will hopefully improve the expertise on pCML treatment worldwide.

Bone and soft-tissue sarcomas encompass over 70 histologic subtypes, posing diagnostic challenges due to overlapping characteristics. Molecular analyses, such as fluorescence in situ hybridization (FISH) and reverse transcription polymerase chain reaction (RT-PCR), aid in identifying specific genomic alterations but are often limited, particularly when prior histological findings are inconclusive. Next-generation sequencing (NGS) offers high-throughput testing via a targeted sequencing panel, addressing these limitations. This case series highlights the utility of NGS in diagnosing two pediatric patients with immunobiologically ambiguous Ewing sarcoma (ES) and clear cell sarcoma (CCS), emphasizing its role as a powerful tool in solid tumor diagnosis.

Multiple primary malignant neoplasms (MPMNs) are defined as two or more distinct tumors in the same individual. Synchronous breast and colon cancers are infrequent and present management challenges due to the lack of standardized guidelines. We report a 73-year-old woman presenting with a right breast mass, subsequently diagnosed as Grade 2 invasive ductal carcinoma. Staging CT incidentally revealed right colon wall thickening, and colonoscopy with biopsy confirmed moderately differentiated invasive adenocarcinoma. Following neoadjuvant chemotherapy, she underwent simultaneous radical mastectomy with axillary lymph node dissection and right hemicolectomy. Postoperative recovery was uneventful. Adjuvant chemoradiation was administered per multidisciplinary team (MDT) recommendation. Synchronous breast and colon cancers pose unique diagnostic and treatment planning challenges. MDT collaboration is crucial for personalized treatment strategies and optimized outcomes in these complex cases.

Immune checkpoint inhibitors have revolutionized cancer treatment, yet their use is associated with unique and sometimes unpredictable immune-related adverse events. We present a case of a 67-year-old female with renal cell cancer treated with ipilimumab and nivolumab who developed aseptic meningitis and hypophysitis. This case highlights the challenges in managing immune-related adverse events and underscores the need for vigilance in monitoring patients receiving ICIs.

We describe two patients who experienced serious multiple immune-related adverse events (irAEs), treatment interruption, and steroid administration. Despite these challenges, they achieved a remarkable antitumor effect beyond the expected. Various carcinomas demonstrated a possible correlation between the antitumor effect of immune checkpoint inhibitors and the intensity of irAEs, but few studies report on malignant pleural mesothelioma (MPM). Our two cases exhibited much stronger irAEs than usual. These two cases still demonstrated a complete response (CR) or near CR partial response, indicating a correlation between irAEs and the antitumor effect in MPM.

Background: Tumors infiltrating the precentral gyrus remain a unique operative challenge. In this study, we explored a novel approach for awake craniotomy involving a patient playing a drum pad during resection of low-grade glioma, with the use of preoperative navigated transcranial magnetic stimulation (nTMS)-generated diffusion tensor imaging (DTI) and high-density real-time electrocorticography (ECoG). Observation: A 36-year-old left-handed male with a low-grade glioma in the left hemisphere hand knob region had a grand mal seizure. We combined preoperative nTMS-DTI with intraoperative passive functional mapping using high-density real-time ECoG. During an awake craniotomy, the patient played a drum pad while we assessed somatosensory-evoked potentials (SSEPs) using a 64-channel ECoG grid. This confirmed the absence of motor-evoked potentials (MEPs) over the tumor area, consistent with nTMS findings. Continuous monitoring of the patient's drum pad performance during the resection allowed for a gross total resection (GTR) of the tumor. Following the resection, he experienced some weakness in the intrinsic muscles of his right hand, which returned to full normal function at 6 months. At the end of 1 year, he remained seizure-free. Conclusion: A multimodal mapping strategy combined with awake monitoring of drum playing enabled preservation of function while achieving GTR in a patient with a motor-eloquent glioma.

Nonmelanoma skin cancer (NMSC) is one of the most common cancers worldwide and cutaneous squamous cell carcinoma (CSCC) is the second most prevalent type of the NMSCs. Most often, the prognosis is good when treated with surgery with or without additional radiotherapy; however, in about 1% of patients, the disease is inoperable or advanced with no curative potential. We present four cases in which the immune checkpoint inhibitor pembrolizumab was given to patients with advanced CSCC. Three patients obtained complete response (CR) with an ongoing duration of response with a follow-up time of 60, 78, and 79 months and one who achieved stable disease (SD) as the best response. Two of the patients discontinued treatment after eight cycles of pembrolizumab due to side effects. Immunotherapy with a programmed death protein 1 (PD-1) inhibitor is an approved therapy for these patients today. The successful treatment with long-term duration of response of these three out of four patients supports the use of a PD-1 inhibitor as a primary treatment for locally advanced and metastatic CSCC.

T-cell/histiocyte-rich large B-cell lymphoma (THRLBCL) is a rare and aggressive subtype of diffuse large B-cell lymphoma (DLBCL) that is uncommon in children. Here, we present the case of an 8-year-old male with a 3-month history of low-grade intermittent fever, significant weight loss, loss of appetite, and progressive abdominal swelling. Examination revealed splenomegaly and a palpable midabdominal mass, with laboratory findings showing bicytopenia. Imaging demonstrated hepatosplenomegaly, diffuse hypodense liver and spleen lesions, and mesenteric and retroperitoneal lymphadenopathy. A core-needle biopsy of the mesenteric mass confirmed the diagnosis, with histopathology revealing scattered large mononuclear and binucleate cells in a background of small lymphocytes and histiocytes. Immunohistochemistry showed positivity for CD45, CD20, and EMA and negativity for CD30, CD15, and Bcl-2, excluding alternative diagnoses such as nodular lymphocyte-predominant Hodgkin lymphoma (NLPHL) and classical Hodgkin lymphoma (cHL). The patient was initially stabilized with a prephase regimen of cyclophosphamide, vincristine, and prednisone (COP), followed by induction and consolidation with R-COPADM (rituximab, cyclophosphamide, vincristine, prednisone, and methotrexate). Posttreatment imaging revealed significant resolution of lymphadenopathy and hepatosplenomegaly, with no residual or recurrent disease. At follow-up, the patient remains in clinical remission with no signs of progression. This case highlights the importance of early recognition, detailed histopathological evaluation, and the role of immunohistochemistry in accurately diagnosing THRLBCL in children, ensuring timely initiation of effective therapy and improving outcomes in this rare pediatric malignancy.

Krukenberg tumors are rare cancers involving metastatic disease in the ovaries but classically originate from gastrointestinal malignancies, and often present diagnostic challenges due to their nonspecific symptoms and advanced stage at detection. Traditional imaging techniques like ultrasound, CT, and MRI are common methods of cancer monitoring but are limited in detecting micrometastatic disease and early-stage metastases. Circulating tumor DNA (ctDNA) testing, a noninvasive liquid biopsy method, offers a promising alternative to traditional screening methods, enabling earlier detection and precise molecular profiling of metastatic tumors. We present a case study involving a female patient who initially presented with stage IV colon cancer with oligometastatic disease to a single mesenteric lymph node. Despite neoadjuvant chemotherapy and resection of known disease, postresection ctDNA returned positive. Imaging after metastectomy failed to reveal any sites of ongoing disease, although did show a small, 2.4-cm hypodensity in the right ovary interpreted by radiology as likely an ovarian follicle. Given her ctDNA positivity, she was started on capecitabine. ctDNA levels improved, but her serum carcinoembryonic antigen (CEA) tumor marker continued to rise, and imaging subsequently revealed increased bilateral ovarian masses. She underwent bilateral salpingo-oophorectomy and total abdominal hysterectomy, with pathology confirming metastatic colon adenocarcinoma, and subsequent normalization of her CEA and ctDNA levels. Our findings underscore ctDNA's potential to complement imaging, particularly for high-risk patients, for disease monitoring and to refine therapeutic management when treating Krukenberg tumors.