Case Reports in Oncology最新文献

Introduction: Here, we report the first case of a soft tissue tumor with a PAK2::RAF1 fusion.

Case presentation: The patient was an 11-year-old female presenting with a 5 cm intramuscular mass in the lower leg. Microscopic examination revealed a mitotically active spindle cell lesion with monomorphic and moderately atypical cells growing in a patternless pattern with the presence of stromal and perivascular keloidal collagen with focal immunoreactivity for smooth muscle actin and S100; negative stains included cytokeratins, CD34, and caldesmon. Whole genome and RNA sequencing detected a chromosome 3 inversion and a resultant PAK2::RAF1 fusion as well as a CDKN2A homozygous deletion. The patient was treated with neoadjuvant chemoradiotherapy with only minimal response and the tumor was excised surgically. There was no evidence of disease progression at 4 months.

Conclusion: This is the first case of a soft tissue tumor harboring a PAK2::RAF1 fusion with histological features in keeping with previous cases of RAF1 and other kinase fusion soft tissue tumors.

Introduction: Immune-related adverse events (irAEs) from nivolumab can affect any organ, but renal impairment is less common than effects on other organs. We encountered a case in which a renal irAE was difficult to diagnose due to mild renal dysfunction.

Case presentation: We report the case of a 65-year-old man with hypopharyngeal carcinoma treated with radiotherapy and cisplatin. Histopathological examination after reconstructive surgery showed extranodal invasion. Two months after completing treatment, computed tomography showed multiple lung metastases. We determined that the tumors were platinum-resistant and initiated treatment with nivolumab. Pyuria, worsening renal function, and elevation of C-reactive protein (CRP) to 16 mg/dL were observed 203 days after the first dose and nivolumab was discontinued. We considered the possibility of renal irAE but did not perform renal biopsy because creatinine was not highly elevated. We administered antibiotics for urinary tract infection, but CRP rose to 20 mg/dL and his general condition gradually worsened. Arthralgia in both knees and elbows appeared around the same time and gallium scintigraphy showed polyarticular accumulations. After diagnosing irAE arthritis, 20 mg of prednisolone was administered. Arthralgia and inflammatory responses improved, along with urinary findings and tubular markers. Retrospectively, pyuria, mild renal dysfunction, and elevated CRP were considered to reflect renal irAE.

Conclusion: In some cases of mild renal dysfunction, as in the present case, biopsy may not be performed and the diagnosis may be missed. Renal irAEs should be kept in mind when abnormal urinalysis results and renal dysfunction are observed.

Introduction: Angioimmunoblastic T-cell lymphoma (AITL) is a rare form of non-Hodgkin lymphoma with diverse clinical presentations. This report describes a unique case of AITL presenting with pulmonary arterial hypertension (PAH), a rarely associated complication.

Case presentation: An 84-year-old male with a history of gastric cancer presented with dyspnea. Initial investigations revealed lymphadenopathy, pleural effusion, and severe PAH. Diagnostic workup, including histopathological and immunohistochemical analysis of an excisional lymph node biopsy and advanced imaging techniques, confirmed the diagnosis of AITL. The patient was treated with a mini-CHOP chemotherapy regimen, leading to significant improvement in PAH and other symptoms, and achieving complete remission as confirmed by positron emission tomography-computed tomography scans.

Conclusion: This case highlights the diagnostic challenge posed by atypical manifestations of AITL, such as PAH. The effective response to chemotherapy in this patient emphasizes the potential for conventional treatment regimens in managing rare presentations of AITL. This report contributes to the limited literature on AITL with PAH and underscores the importance of considering AITL in differential diagnoses for patients presenting with PAH.

Introduction: High-grade treatment-emergent neuroendocrine prostate cancer (T-NEPC) is a rare subtype of prostate cancer with limited therapeutic options and poor prognosis. Understanding biomarkers that influence the efficacy of immune checkpoint inhibitors (IO) is vital to form a better therapeutic arsenal for these patients.

Case presentation: We describe an impressive response to IO combination immunotherapy with ipilimumab plus nivolumab (Ipi/nivo) in a patient with T-NEPC who had failed standard treatment approaches. The patient was showing signs of a rapid decline in quality of life despite his prostate-specific antigen levels remaining undetectable and had no previous response to standard therapies. The results of the next-generation sequencing DNA analysis demonstrated the presence of intermediary tumor burden, an ATM mutation and a rare SF3B1 (G742D) mutation, and served as rational for IO therapy in this patient.

Conclusions: This case highlights the genetic profile of tumor with a rare combination of ATM and SF3B1 mutations that could be further explored as biomarkers for IO therapy in T-NEPC and other tumor types.

Introduction: Giant phyllodes tumors are fibroepithelial lesions whose diameters exceed 10 cm. Core biopsy represents the best diagnostic method in order to distinct fibroadenomas from phyllodes tumors. Wide surgical resection with clear margins is the standard of treatment.

Case presentation: In this report, we describe the case of a 41-year-old woman, who presented with a rapid growth of a phyllodes tumor after an accidental bump on the breast and had to undergo mastectomy followed by breast reconstruction.

Conclusion: There is possibly an etiological correlation between accident and phyllodes tumor growth.

Introduction: Patients with anaplastic lymphoma kinase (ALK)-rearranged non-small cell lung cancer (NSCLC) are at increased risk of central nervous system (CNS) metastasis at initial diagnosis and throughout treatment. In a phase 3 trial, lorlatinib, a third-generation ALK tyrosine kinase inhibitor, significantly improved progression-free survival. In further analysis, lorlatinib revealed superior intracranial efficacy and prolonged time to intracranial progression compared with crizotinib.

Case presentation: Herein, we report a case of ALK-positive NSCLC with leptomeningeal metastasis that was successfully treated with lorlatinib after progression to brigatinib and alectinib. This case demonstrates the potential of lorlatinib in managing leptomeningeal metastasis in ALK-positive NSCLC.

Conclusion: The case suggests a paradigm shift in therapeutic approaches for CNS metastasis, including brain and leptomeningeal metastases.

Introduction: Chemotherapy plus immunotherapy is the standard treatment worldwide for advanced lung squamous cell carcinoma with high programmed cell death protein-1 (PD-1) expression. The use of immunotherapy alone against advanced lung squamous cell carcinoma is rarely reported, and data on PD-1 inhibitor camrelizumab are missing. We report the first case of camrelizumab monotherapy, which can be a reference for the clinical applications of camrelizumab in a wider context.

Case presentation: We herein present a 69-year-old male case of advanced squamous cell carcinoma with low PD-1 expression, in which camrelizumab monotherapy was administered every 3 weeks. Camrelizumab monotherapy reversed advanced lung squamous cell carcinoma without recurrence or obvious side effects during 26 months of follow-up. The patient is alive and in good conditions to date; thus, progression-free survival and overall survival are not determined.

Conclusion: This case report provides evidence of the efficacy of camrelizumab monotherapy and highlights the feasibility of camrelizumab alone against advanced lung squamous cell carcinoma when chemotherapy is not applicable.

Introduction: Combined immuno-oncology (IO) regimens are the cornerstone of the current front-line systemic therapy for metastatic renal cell carcinoma (mRCC). Despite the fact that combined IO regimens show high efficacy, they are often accompanied by a wide spectrum of immune-related adverse effects (irAEs).

Case presentation: We describe a case of rare irAEs manifested as giant cell temporal arteritis (GCA) followed by severe encephalopathy occurring after continuing immunotherapy in a 66-year-old man with mRCC receiving a combination of ipilimumab and nivolumab in the first line of systemic therapy. GCA occurred 4 months after the initiation of IO and responded promptly to the low-dose prednisone therapy. Four months after the continuation of nivolumab maintenance, the patient was hospitalized due to severe irAE encephalopathy which presented as psycho-behavioral abnormalities and progressive cognitive decline. He was treated with high-dose methylprednisolone which led to complete resolution of the symptoms and IO was permanently discontinued. The patient achieved a durable partial response.

Conclusion: Both GCA and the subsequent encephalopathy in our patient responded well to the corticosteroid therapy, leading to the complete resolution of the symptoms and the patient achieved a durable partial response. Although the risk of severe neurologic irAEs affecting the central nervous system induced by IO re-administration, following previous discontinuation due to irAE, is not well-defined because of their rarity, this case highlights the need for caution, particularly in cases with a history of previous irAE-associated GCA.

Introduction: Leiomyosarcoma (LMS) is a malignancy with smooth muscle differentiation. Metastatic LMS is associated with poor prognosis and limited efficacy of systemic treatment. Novel treatment modalities are desperately needed for this entity.

Case presentation: We report the first use of pembrolizumab plus pharmacologic ascorbate in 3 patients with metastatic LMS. All cases resulted in persistent objective responses and disease control significantly better than has been reported with chemotherapy or other immunotherapeutic approaches. Three patients with metastatic LMS, one each of uterine, vascular, and soft tissue origin, were treated with pembrolizumab plus pharmacologic ascorbate. The patient with uterine LMS received combination therapy at presentation and had persistent response for 12 months, which is ongoing. The patient with metastatic LMS of the inferior vena cava received combination therapy at presentation and had persistent response for 12 months, at which time new metastases were found. The patient with soft tissue LMS had disease progression on pembrolizumab monotherapy prior to the addition of ascorbate, after which she had a 17-month response, which is ongoing. No side effects attributed to treatment were reported.

Conclusion: Pembrolizumab plus pharmacologic ascorbate is a novel immunotherapeutic approach and warrants further study in LMS.

Introduction: Near-infrared photoimmunotherapy (NIR-PIT) is a recently developed hybrid cancer therapy that directly kills cancer cells while producing a therapeutic host anticancer immune response. The activation of host immunity using NIR-PIT can enhance the effects of immune checkpoint inhibitors (ICIs) in animal experimental models; however, there have been no reports of this phenomenon in humans. Furthermore, by activating host immunity using NIR-PIT in patients who have become resistant to ICIs, the effects of ICIs can be restored.

Case presentation: A 56-year-old male experienced local recurrence after chemoradiotherapy for maxillary sinus cancer (cT4bN0M0). The disease had progressed following ICI antiPD-1 antibody therapy. He underwent NIR-PIT for four cycles; however, a local recurrent tumor remained and began a rapid regrowth. The ICI antiPD-1 antibody was then readministered following NIR-PIT. As a result, sensitivity to antiPD-1 therapy was restored, and the tumor shrank. Finally, a complete response was observed without major adverse events associated with subsequent antiPD-1 antibody treatment following NIR-PIT.

Conclusion: These results indicated that NIR-PIT may not only activate host anticancer immunity but also enhance the effects of ICIs and overcome antiPD-1 resistance.