Case Reports in Oncological Medicine最新文献

Metastatic ampullary carcinoma (AC) almost always carries a poor prognosis. We present a remarkable case of a 69-year-old male with Stage IV pancreaticobiliary-type AC who achieved a complete remission after 45 months of palliative modified FOLFIRINOX chemotherapy (5-fluorouracil, oxaliplatin, leucovorin, irinotecan). This unexpected outcome challenges the conventional understanding of the natural history of advanced AC. Furthermore, molecular analysis revealed a pathogenic PALB2 mutation, along with variants of unknown significance in the POLD1 and RAD50 genes, coding for enzymes involved in various deoxyribonucleic acid (DNA) repair pathways. These findings raise questions about their potential influence on treatment response and prognosis. This case underscores the need for further investigation into the role of molecular alterations and personalized approaches in managing advanced AC.

Renal artery stenosis (RAS) is a rare but significant vascular complication associated with nilotinib therapy for chronic myeloid leukemia (CML). We present the case of a woman in her mid-70s on long-term nilotinib who developed this adverse event. The patient presented with a progressive, insidious decline in renal function over several years. Diagnostic evaluation revealed severe unilateral stenosis of the left renal artery. Under nilotinib, the patient had maintained a sustained deep molecular response (DMR), making her a candidate for treatment-free remission (TFR). The development of RAS prompted the discontinuation of nilotinib, both as a therapeutic intervention for her kidney disease and to initiate a trial of TFR. Following discontinuation, the patient's renal function showed partial but significant improvement, suggesting a causal relationship. This case describes the importance of recognizing subtle presentations of TKI-induced vascular complications, particularly unilateral RAS, and illustrates how managing such adverse events intersects with modern CML therapeutic goals like TFR.

Systemic mastocytosis (SM) is a rare blood disorder characterized by the clonal proliferation of mast cells in tissues. Mast cells release various vasoactive mediators, including histamine, leukotrienes, prostaglandins, platelet-activating factors, and cytokines such as tumor necrosis factor. Clinical manifestations can range from mild itching to severe distributive shock. In some rare cases, mastocytosis is associated with other blood disorders, such as systemic mastocytosis with associated hematologic neoplasm (SM-AHN). Almost all cases of SM exhibit a KIT point mutation. We report a rare case of KIT-negative SM associated with acute myeloid leukemia. Historically, AML has been associated with a poor prognosis, and further research is needed to understand the prognosis of SM associated with AML. In this particular case, the patient underwent induction chemotherapy with azacitidine and venetoclax, and a follow-up bone marrow biopsy showed a reduction in mastocytosis without complete hematologic recovery. The authors aim to present this case as an example of the complex nature of SM and its diverse clinical presentations.

Breast cancer can spread to the brain and bone, usually presenting as parenchymal and osteoblastic lesions, respectively. We present a unique case of a 59-year-old woman undergoing treatment for invasive lobular breast cancer who presented with nausea, vomiting, headache, and generalized weakness. Her clinical presentation and subsequent evaluation led to a discovery of leptomeningeal carcinomatosis and myelophthisic anemia presenting simultaneously as her initial metastases. She was treated with weekly paclitaxel and intrathecal methotrexate, with noted cerebrospinal fluid response. She continues to follow up with the oncology clinic.

Introduction: Deficiency in BRCA genes leads to impediment in DNA repair and is associated with an increased lifetime risk of breast, ovarian, prostate, and pancreatic cancer and melanoma. Lynch syndrome is caused by inherited mutations in genes responsible for DNA mismatch repair, with resultant increase in lifetime risk of colorectal, endometrial, ovarian, stomach, urinary, pancreatic, and CNS malignancies. Here, we present a patient with a rare coexistence of both BRCA2 and PSM2 mutation in the setting of metastatic pancreatic and prostate cancer. Case Presentation: The patient was initially diagnosed with metastatic prostate adenocarcinoma at the age of 57, when a screening PSA of 22.9 warranted biopsy and staging scans revealed involvement of the aortocaval lymph node. Treatment with androgen deprivation therapy with the addition of abiraterone and prednisone was initiated. Additionally, a PET scan showed a hypermetabolic isolated lung nodule, which upon wedge resection showed Stage I lung cancer. Three years later, a pancreatic mass and multiple liver lesions were found on a surveillance scan. Biopsy confirmed the diagnosis of pancreatic cancer, and germline testing revealed the coexistence of BRCA2 and PMS2 mutations. The patient completed four cycles of cisplatin and gemcitabine, followed by the initiation of olaparib as per the POLE study. About 12 months after the diagnosis of metastatic pancreatic cancer and 4 years after the diagnosis of metastatic prostate cancer, the patient has excellent control of the disease with performance status ECOG 0 and minimal side effects from maintenance therapy. Conclusion: This case presents a unique combination of two coexistent inherited syndromes with the approximate combined incidence of 1:357,000. The presence of two advanced malignancies in our patient underlines the cumulative effects of combined deficiency in the DNA repair pathway and possibly an even higher lifetime risk of cancer. This may explain the presence of lung cancer with a minimal smoking history of less than 10 pack years. PARP inhibitors may be effective in controlling metastatic pancreatic cancer, and thus, genetic counseling is important for this patient and his family members, who will need appropriate cancer screening. The probability of carrying two pathogenic variants may be expected to increase as a result of next-generation sequencing and germline testing.

Oligoprogression in MET Exon 14 skipping (METex14)-mutated non-small cell lung cancer (NSCLC) is clinically challenging, particularly when local therapies are contraindicated. We report the first documented case of a 62-year-old man with oligoprogressive METex14-positive NSCLC who achieved a sustained metabolic response following the addition of docetaxel to ongoing tepotinib therapy after progression on tepotinib monotherapy. Due to prior thoracic irradiation, reirradiation and surgical interventions were deemed not feasible, prompting this systemic combination to maintain MET inhibition while targeting resistant tumor clones. This strategy resulted in a partial metabolic response at the primary lung lesion and a sustained complete metabolic response in an adrenal metastasis. The regimen was generally well tolerated; however, Grade 3 peripheral edema required dose reduction of tepotinib. This case supports the potential role of systemic therapy intensification in METex14-driven NSCLC, highlighting the therapeutic value of continued MET inhibition beyond disease progression, particularly when local treatment and advanced molecular monitoring such as ctDNA are unavailable. Trial Registration: ClinicalTrials.gov identifier: NCT05439993.

T-large granular lymphocytic (T-LGL) leukemia is a rare hematological malignancy characterized by clonal expansion of cytotoxic T-cells resulting in cytopenias. The diagnostic criteria for T-LGL leukemia necessitated a sustained peripheral blood elevation of LGLs exceeding 2 × 10⁹/L for a minimum duration of 6 months, in the absence of an identifiable etiology. In most of the cases, it is associated with autoimmune disorders such as rheumatoid arthritis. As cytopenias, including neutropenia, can be an early manifestation of the disease, they may get confused with Felty's syndrome, resulting in delayed diagnosis and treatment. Hence, we are presenting a rare case of diagnosing T-LGL leukemia in a patient with rheumatoid arthritis with neutropenia and low LGL level.

Small round cell tumors (SRCTs) are characterized by primitive round cells and a broad differential diagnosis due to their undifferentiated nature, making their diagnosis particularly challenging. Molecular testing is often essential for definitive classification; however, subtle histomorphological features can significantly narrow the differential diagnosis. Here, we present the case of a 44-year-old male who presented with a painless mass (up to 15.6 cm) in the left thigh. Histologic examination of the biopsy revealed solid sheets of monotonous small round cells with scant cytoplasm, hyperchromatic nuclei, and conspicuous nucleoli within the edematous to myxoid stroma. Notably, capillary-sized blood vessels were present throughout the tumor, which made BCOR-rearranged sarcomas, myxoid liposarcoma with small cell morphology, and GLI1-altered soft tissue tumors the main differential diagnoses. Classic morphology of myxoid liposarcoma was not present. Immunohistochemical (IHC) staining revealed that the tumor cells were diffusely positive for SOX11 but negative for SATB2, CD56, S100, and TLE1. This immunophenotype, combined with the histological findings, strongly suggested a diagnosis of myxoid liposarcoma with high-grade features. Fluorescence in situ hybridization (FISH) analysis confirmed a DDIT3 rearrangement, supporting this diagnosis. We hope this case will enhance pathologists' understanding and recognition of the importance of utilizing subtle histologic features to establish the differential diagnosis and accurately diagnose SRCTs in biopsy specimens prior to molecular testing.

Introduction: Lung cancer is the leading cause of cancer-related mortality, with non-small cell lung cancer (NSCLC) accounting for 85% of cases. Lung adenocarcinoma, the most common subtype, can mimic benign conditions like pneumonia, lung abscess, and interstitial lung disease due to its varied radiologic presentations and associated inflammation and fibrosis. This similarity can delay diagnosis, emphasizing the need for imaging and histopathological confirmation. Case Presentation: A 58-year-old male with a significant smoking history, hypertension, and GERD presented with a 5-month history of episodic epigastric pain, exacerbated by heavy meals, along with progressive respiratory symptoms, including shortness of breath, dry cough, and a 20-kg weight loss over 3 months. Upper endoscopy revealed gastric ulcers, a hiatal hernia, esophageal mucosal changes consistent with GERD, and Helicobacter pylori infection on biopsy, which was treated with triple therapy, resolving his gastrointestinal symptoms. However, his respiratory symptoms worsened, with increased dyspnea at rest, pleuritic chest pain, and a persistent cough. Chest CT showed multiple cavitating lung nodules, architectural distortion predominantly in the upper lobes, a large irregular lesion in the right lower lobe, and enlarged paratracheal, subcarinal, and distal paraesophageal lymph nodes. The patient was transferred to our facility for further evaluation. Whole-body CT revealed widespread bilateral cavitary lesions, lymphadenopathy, and a small hiatal hernia. Bronchoscopy with biopsy confirmed metastatic lung adenocarcinoma, with histopathology showing moderately differentiated adenocarcinoma, positive for TTF-1 and Napsin A and negative for PAX8. Cytology from bronchoalveolar lavage also confirmed malignancy, and PD-L1 immunostaining showed weak positivity in 15%-20% of tumor cells. The patient was diagnosed with metastatic lung adenocarcinoma and initiated on carboplatin and pemetrexed chemotherapy. Molecular testing was planned, and he was discharged for follow-up care. Conclusion: Our case of a 58-year-old male with cavitating lung nodules, significant weight loss, and progressive respiratory symptoms, initially misattributed to gastrointestinal disease, highlights the diagnostic complexity of lung adenocarcinoma. The biopsy-confirmed diagnosis of metastatic adenocarcinoma underscores the need for clinicians to maintain a high index of suspicion for malignancy in patients with atypical or nonspecific presentations. Early tissue diagnosis is crucial for timely treatment and improved outcomes, especially in cases involving cavitary lesions or persistent, unexplained symptoms.

Introduction: The synchronous occurrence of melanomas of varying histological types is an uncommon event, with reported incidences ranging from 0.2% to 8.6%. Case Report: We present the case of a patient diagnosed with Stage IIB nodular melanoma and Stage IIIC epithelioid cell melanoma within a 3-month period. After surgical excision of both lesions, lymph node enlargement was observed in the obturator region, indicating metastatic spread. As a result, combined immunotherapy with nivolumab and ipilimumab was initiated. Nivolumab and ipilimumab were administered at doses of 1 and 3 mg/kg, respectively, every 3 weeks for a total of four doses. Thereafter, treatment was continued with nivolumab alone at a dose of 3 mg/kg every 2 weeks. The patient underwent three cycles of immunotherapy, initially combined with intravenous methylprednisolone, later transitioned to an oral regimen with dexamethasone. The patient initially demonstrated a favorable clinical response without adverse effects. However, after the third infusion, severe diarrhea developed, leading to daily fluid losses exceeding 8 L and associated hypokalemia. Therefore, methylprednisolone was administered intravenously (2 mg/kg/day). Additionally, the patient experienced a splenic infarction that resolved spontaneously without resulting in asplenia. At the most recent follow-up evaluation, no lymph node enlargement was detected, and surveillance continues at 3-month intervals. Discussion: Although rare, the simultaneous emergence of melanomas at distinct anatomical sites underscores the necessity for increased patient vigilance and comprehensive clinical monitoring to facilitate early detection and timely intervention. Conclusion: Prompt initiation of targeted immunotherapy may improve patient prognosis and outcomes.