Case Reports in Oncological Medicine最新文献

Introduction: The symptom and treatment of pancreatic ductal adenocarcinoma (PDA) at an advanced stage significantly deteriorate patients' quality of life (QOL). Therefore, multidisciplinary long-term and palliative care is needed to maintain patients' physical, social, and psychological well-being and ultimately improve survival.

Case presentation: An octogenarian residing in a care center, which can provide multidisciplinary long-term care with nutritional, physical, and social support, as well as pain management through home medical services, was diagnosed with Stage IV PDA. She received multiple outpatient chemotherapy sessions and experienced cancer-related pain and fatigue. However, participating in individual functional training and altruistic social activities at the day service center, which is a crucial component of Japan's long-term care system, within the care center maintained her high level of QOL for 5 years and 5 months until she died peacefully at the care center.

Conclusion: Multidisciplinary care with nutritional support, palliative care, exercise, and social support at the care center may have reduced the patient's psychological stress and maintained her physical and psychological well-being and ultimately improved her QOL and survival. The multidisciplinary care center may be a candidate for a new model system of palliative and hospice care that did not only provide pain/symptom control and terminal care but also maintained a high QOL of the patient.

Purpose: BRAFV600E-mutated metastatic colorectal cancers (mCRCs) are associated with poorer prognosis. We present a case, in which noninvasive therapeutic monitoring was performed on a patient with BRAF-mutant mCRC, aiming to track disease progression and elucidate the mechanisms of response and resistance towards anti-BRAF therapy.

Methods: A 40-year-old man diagnosed with metastatic BRAFV600E mutant sigmoid adenocarcinoma received multiple lines of treatment, including first-line chemotherapy + bevacizumab and targeted therapy of cetuximab, encorafenib ± binimetinib. Noninvasive therapeutic monitoring was performed on ctDNA using our in-house designed droplet digital PCR assay and fragmentomics. We also performed serial and paired analyses of tissue, liquid biopsy, and in vitro studies at different multiple timepoints.

Results: ctDNA and fragmentomics biomarkers were concordant with, and even preceded traditional serological and radiological biomarkers in predicting disease progression. Molecular analyses and drug testing also revealed mutations that are either potentially targetable or account for resistance, which guided the subsequent treatment regimen.

Conclusion: This case demonstrates the potential application of ctDNA and fragmentomics biomarkers, molecular analyses, and drug testing in noninvasive therapeutic monitoring of BRAFV600E mutant mCRC. These illustrate the potential application of such noninvasive therapeutic monitoring in larger scale cohorts of patients.

Esthesioneuroblastoma (ENB), also known as olfactory neuroblastoma, is a rare neuroendocrine malignancy arising from the olfactory neuroepithelium. It exhibits a wide range of biological behaviors, from indolent to highly aggressive disease, often requiring a multimodal treatment approach involving surgical resection, radiotherapy, and chemotherapy, though outcomes remain variable. The overexpression of somatostatin receptors (SSTRs), particularly SSTR2, has led to the exploration of peptide receptor radionuclide therapy (PRRT) with lutetium-177 DOTATATE (Lu-177) as a targeted option in refractory cases. We present the case of a 64-year-old woman with recurrent, metastatic ENB, Kadish Stage D (T2N0M0G2). After undergoing surgical resection, intensity-modulated radiotherapy (IMRT), and systemic chemotherapy (cisplatin/etoposide), the patient experienced disease progression, prompting the initiation of targeted therapy with sunitinib. Given high SSTR expression detected on Gallium-68 PET imaging, four cycles of PRRT with Lu-177 DOTATATE were introduced with adverse effects (Grade 1 fatigue, nausea, leukopenia, anemia, and thrombocytopenia). While initial tumor regression was observed, subsequent progression necessitated further stereotactic body radiotherapy (SBRT) and temozolomide. This case highlights the therapeutic potential of PRRT with Lu-177 DOTATATE in treating refractory SSTR-expressing ENB. A multidisciplinary approach that integrates surgery, radiotherapy, systemic therapy, and theragnostic strategies remains essential to optimizing patient outcomes.

Hemophagocytic lymphohistiocytosis (HLH) is a rare, life-threatening hyperinflammatory syndrome resulting from uncontrolled activation of the immune system. It is characterized by persistent fever, cytopenias, organomegaly, and a constellation of laboratory abnormalities including hyperferritinemia, hypertriglyceridemia, hypofibrinogenemia, and elevated soluble interleukin-2 receptor levels. HLH can be broadly classified into primary (familial) and secondary forms, the latter often triggered by infections, malignancies, autoimmune diseases, or other systemic insults. Despite advancements in diagnostic criteria and therapeutic strategies, HLH continues to carry high morbidity and mortality, largely due to its nonspecific and variable presentation that often leads to delays in diagnosis. Early recognition and prompt initiation of immunosuppressive therapy are crucial to improving outcomes. We are presenting a case of symptomatically gastrointestinal-dominant HLH presentation potentially due to an unusual trigger of TMP/SMX in an otherwise healthy adult male who presented with flu-like symptoms accompanied with abdominal pain.

Langerhans cell histiocytosis (LCH) is a rare pediatric histiocytic disorder characterized by diverse clinical manifestations, ranging from isolated lesions to severe multisystem involvement. This case series presents three distinct presentations observed in children. The first case involved a 4-year-old female presenting with generalized lymphadenopathy, polyuria, polydipsia, bilateral vision loss, and systemic symptoms, indicative of significant pituitary and multisystem involvement. Imaging revealed lesions involving the pituitary gland, hypothalamus, and sphenoid sinus. The second case described a 10-year-old male experiencing respiratory distress, significant weight loss, polyuria, and multiple lytic bone lesions. Diagnostic imaging identified extensive colonic involvement, bilateral hydronephrosis, and pulmonary lesions, emphasizing unusual systemic features. The third patient, an 18-month-old child, initially presented with persistent respiratory symptoms, a diffuse rash, severe acute malnutrition, and hepatomegaly and was initially misdiagnosed as having tuberculosis. Later imaging studies revealed extensive pulmonary cystic lesions. Immunohistochemistry from the tissue biopsy demonstrated CD1a positivity, confirming LCH diagnoses. Treatment strategies included standard induction protocols with vinblastine and corticosteroids. These cases show how LCH can present in many different ways in pediatric patients, often in unexpected patterns. Early recognition, thorough imaging, and histological confirmation are crucial for accurate diagnosis. Being aware of the wide range of symptoms can help ensure prompt treatment and better outcomes for this serious but manageable condition.

Background: Classical Hodgkin lymphoma (cHL) is a highly curable B-cell malignancy; though, rarely, it can transform into non-Hodgkin lymphoma (NHL), including diffuse large B-cell lymphoma (DLBCL), follicular lymphoma, or marginal zone lymphoma. Reports of such transformations remain limited in the literature.

Objective: The aim of this study is to describe the clinical course, histopathological findings, and outcomes of three patients with cHL who developed secondary NHL.

Results: Case 1 involved transformation from cHL to CD20+/CD30+ DLBCL following multiple lines of chemotherapy and autologous stem cell transplant, eventually resulting in progressive disease and death. Case 2 transformed into follicular lymphoma Grade 3a more than a year after cHL remission, with marrow infiltration managed conservatively pending systemic therapy. Case 3 presented with composite lymphoma at diagnosis (cHL and extranodal marginal zone lymphoma) and experienced indolent but recurrent disease involving the liver, requiring multiple rounds of chemoimmunotherapy.

Conclusion: Transformation of cHL into NHL, though rare, may occur years after initial treatment or concurrently at presentation. These cases underscore the importance of repeat biopsy in suspected relapses and highlight the clinical and pathological heterogeneity of such transformations. Our paper adds to the limited literature on this phenomenon and is the first of its kind reported from Palestine.

Collecting duct carcinoma (CDC) is a rare, aggressive subtype of renal cell carcinoma originating in the renal medulla. We report a unique case of metastatic CDC in a patient with prior breast ductal carcinoma in situ. Genomic profiling revealed a homozygous deletion of CDKN2A (encoding p16). After progression on systemic therapies, the patient received stereotactic body radiotherapy (SBRT) to metastatic lesions concurrently with nivolumab (anti-PD-1). This regimen achieved a rapid complete radiographic remission of all lesions. We present a 63-year-old Sudanese woman with metastatic CDC who achieved a complete remission of over 5 years following nivolumab therapy. The patient initially presented with right flank pain and hematuria. Imaging revealed an exophytic renal mass, and she underwent radical nephrectomy in June 2019. Pathology confirmed high-grade CDC (pT3aN1) with clear margins; immunohistochemistry was notable for positive vimentin, PAX8, CK19, and patchy AMACR, with loss of CDKN2A. Postoperative PET/CT was clear, but by October 2019, three intra-abdominal metastases were seen (liver and retroperitoneum). She was first treated with palbociclib and letrozole, but progression occurred after 3 months. Given reports of immunotherapy efficacy in CDC, she began nivolumab in May 2020. Imaging in October 2020 showed marked tumor regression, sustained on repeat scans. In September 2021, isolated para-aortic lymph node recurrence was treated with stereotactic radiation (20-25 Gy/5 fractions) while continuing nivolumab. Subsequent PET/CT scans (Feb 2022, Feb 2023, June 2023, March 2024, and January 2025) demonstrated continued complete metabolic response. This combined modality approach achieved an unprecedented durable response, underscoring that personalized multimodal therapy-linking radiotherapy, immunotherapy and targeted cell-cycle inhibition-can yield long-term control in CDC. For a disease as lethal as CDC, this outcome demonstrates that genomically informed therapy can achieve extraordinary benefit.

Introduction: Cowden syndrome (CS) is a phenotypic representation of PTEN hamartoma tumor syndrome. CS is the result of dysregulation of the MTOR pathway contributing to cellular proliferation, which leads to an increased risk for the development of benign and malignant tumors of the breast, thyroid, endometrium, and kidney. There are scarce reports of patients with this condition developing lymphomas.

Case presentation: We present an African American female with a history of MALT lymphoma of the right lung diagnosed at age 41 treated with Rituxan who then presented at age 48 with a triple-negative cancer of the right breast. Physical exam showed macrocephaly, thyromegaly, and palmar pits. Family history was notable for a sister deceased from ovarian cancer at age 21 and a mother deceased from colon cancer at age 61. Genetic testing via peripheral blood identified a heterozygous PTEN pathogenic variant p.R130Q consistent with a molecular diagnosis of CS. Skin biopsy was coordinated given concern the MALT lymphoma could have contributed to spurious results and confirmed the same pathogenic PTEN mutation.

Conclusion: Lymphomas have rarely been reported with this condition although activation of the PTEN pathway has been previously reported as a contributing factor in B cell lymphoma. Skin biopsies may offer the best specimen for patients with hematologic malignancy.

Paragangliomas are rare neuroendocrine tumors that arise from chromaffin cells that can be sympathetic or parasympathetic in nature. Paragangliomas are closely related to pheochromocytomas, which are also a form of neuroendocrine tumor arising from the adrenal medulla (Chen et al., 2010; García-Carbonero et al., 2021). Paragangliomas of sympathetic origin are often secretory in nature, causing symptoms such as headache, palpitations, excessive perspiration, and high blood pressure, and are most often found along the sympathetic chain. Common locations include the abdomen, skull base, bladder, and aortic bifurcation. Paragangliomas found in the head and neck region are often parasympathetic in origin and are non-functional. The annual incidence of paragangliomas varies from 0.04 to 0.9 individuals per 100,000 population (Subhi et al., 2022) and can present in any age group. The average age of diagnosis ranges from the third to fifth decade based on the nature of the tumor (Eisenhofer et al., 2011), and there is no significant gender predilection. These tumors are often associated with germline mutations in VHL, RET, NF1, SDHA,MEN2, SDHB, SDHC, SDHD, SDHAF2 genes (Timmers et al., 2007; Lefebvre and Foulkes, 2014; Fliedner et al., 2010). Most cases of paragangliomas are benign with very low potential for metastasis; overall, paragangliomas have a 0-36% chance of metastasis (Fliedner et al., 2010; O'Riordain et al., 1996) often being sympathetic in origin. Metastasis is more common in patients with a germline mutation in SDHB gene and having a primary tumor size greater than 5 cm at presentation (Araujo-Castro et al., 2023; Lam, 2017). This case highlights an unusual clinical course: a carotid body paraganglioma, initially asymptomatic and successfully resected, developed skeletal metastasis after a prolonged disease-free interval of 7 years. This report underscores the importance of revisiting conventional risk stratification, incorporating genetic testing, and ensuring vigilant, long-term follow-up.

Background: Hormone receptor-positive (HR+) and HER2-negative breast cancer is the most common subtype in women, particularly in the postmenopausal setting. Unlike triple-negative breast cancer, the benefit of immune checkpoint inhibitors (ICIs) in HR+/HER2- disease remains uncertain because of low tumor immunogenicity and limited PD-L1 expression.

Case presentation: We describe a case of a 70-year-old woman who presented with severe anemia and was incidentally found to have a bleeding left breast mass. Biopsy confirmed Grade 3 invasive ductal carcinoma (ER+/PR+ > 95%, HER2-) with nodal involvement but no distant metastases, consistent with Stage IIIc disease. She was treated with neoadjuvant anastrozole, modified radical mastectomy, adjuvant chemotherapy, radiation, and continued endocrine therapy. After 3 years, she developed extensive hepatic metastases. Biopsy revealed ER+/PR-/HER2- disease with striking PD-L1 expression (CPS 95%). The disease progressed on fulvestrant and palbociclib, but switching to carboplatin, gemcitabine, and pembrolizumab led to rapid improvement: liver function normalized and imaging showed near-complete response within 3 months. This remission lasted about 10 months before disease progression and transition to hospice care.

Conclusion: This case explains the potential role of ICIs in HR+/HER2- breast cancer with unusually high PD-L1 expression. It underscores the importance of biomarker-driven treatment and supports expanding PD-L1 testing to better identify patients who may benefit from immunotherapy in this traditionally resistant subtype.