Case Reports in Oncology最新文献

Introduction: Renal cell carcinoma (RCC) arises from the tubular epithelial cells in the cortex. RCC can present with metastatic disease in 25-33% of cases and has the potential to metastasize to every distant organ, with no apparent time limit for metastatic activity. Metastatic RCC to the colon is an infrequent phenomenon, making a new primary colonic adenocarcinoma an important differential. Multiple hypotheses for the mechanism of these metastases exist, including multistep hematogenous dissemination or a diffuse peritoneal seeding from an intra-abdominal or retroperitoneal tumor with colonic microperforations. Additionally, colonic metastases may outgrow their blood supply, leading to spontaneous detachment and passage in stool, a phenomenon known as autoamputation. This phenomenon has been described mostly in adnexa, ovaries, and related tumors such as teratomas, but also in polypoid carcinoma in the colon and rectum.

Case presentation: A 62-year-old male with a past medical history of known metastatic RCC, presented to the emergency department with multiple episodes of hematochezia and passed a large tissue-like mass in his stool. Colonoscopy revealed an ulcerated, obstructing mass in the descending colon with an inconclusive biopsy. However, the pathology from the initial mass passed through the stool revealed a clear cell-type RCC classic histologic pattern.

Conclusions: To the authors' knowledge, this is the first reported case of autoamputation phenomena in metastatic RCC to the gastrointestinal (GI) tract. It represents RCC's propensity to metastasize to distant sites and should be considered in the differential diagnosis of lower GI bleed.

Introduction: BCOR, a transcriptional regulator and component of the noncanonical polycomb repressive complex 1 (PRC1), plays an important role in tumorigenesis through transcriptional repression mediated by histone modifications. Alterations in BCOR, including nonsense, frameshift, and splice site mutations, have been reported in several brain tumors such as glial tumors, astroblastomas, pineoblastomas, and medulloblastomas. However, BCOR alterations have not previously been described in IDH-mutant WHO grade 4 astrocytoma.

Case presentation: We describe an adult patient who presented with a recurrent, contrast-enhancing tumor in the left parietal region. The patient underwent complete surgical resection, and histopathology confirmed an IDH-mutant WHO grade 4 astrocytoma. Next-generation sequencing was performed using the TruSight Oncology 500 (TSO500) platform, including both DNA and RNA sequencing. Analysis revealed mutations in IDH1, ATRX, and EGFR, as well as a novel BCOR internal tandem duplication (ITD).

Conclusion: This case represents the first report of a BCOR ITD in an IDH-mutant WHO grade 4 astrocytoma. The discovery expands the molecular spectrum of high-grade astrocytomas and highlights the need for further research into the biological, prognostic, and therapeutic significance of BCOR alterations in these tumors.

Introduction: Synchronous bilateral breast cancer (SBBC) is rare, comprising 2-5% of all breast cancer cases. Even more uncommon is the presence of discordant histologies in each breast. This report discusses a case involving invasive ductal carcinoma (IDC) in the left breast and invasive lobular carcinoma (ILC) in the right breast.

Case presentation: A 46-year-old Arab woman presented with a 6-month history of a growing lump in the left breast and a newly noticed nodule in the right breast. Imaging and biopsy confirmed IDC (Grade 2, ER+/PR+/HER2-) in the left breast and ILC with LCIS in the right breast. Bilateral axillary lymphadenopathy was observed. She underwent neoadjuvant chemotherapy (doxorubicin/cyclophosphamide followed by paclitaxel), followed by a left radical mastectomy with axillary dissection. Hormonal therapy (goserelin and exemestane) and adjuvant radiotherapy were initiated. Right-breast surgery is pending.

Conclusion: SBBC with discordant histology necessitates a multidisciplinary, individualized treatment approach. Hormone receptor status, tumor biology, and extent of disease all influence treatment decisions. This rare clinical scenario highlights the need for further research and specific management guidelines.

Introduction: Acute myeloid leukemia (AML) is a molecularly and clinically heterogeneous disease. Nearly 50% of patients exhibit a normal karyotype, although genomic aberrations are recurrent. Translocations involving JAK2 have increasingly been identified in patients with JAK2V617F-negative myeloproliferative neoplasms, as well as in various other hematologic diseases. Here, we present a unique case of a de novo AML patient with a t(8;9)(p22;p24) translocation, resulting in HMBOX1::JAK2 fusion.

Case presentation: The patient exhibited anemia, leukocytosis, and thrombocytopenia, with bone marrow analysis revealing a significant population of CD34+CD33+ myeloid blasts. The conventional cytogenetic analysis initially showed a normal karyotype, later identifying the t(8;9) translocation after relapse. Molecular characterization of the translocation allowed us to delineate the breakpoints regions, which map to exon 5 of the HMBOX1 gene and exon 19 of the JAK2 gene. The resulting transcript was an in-frame fusion. The patient was diagnosed with acute monocytic leukemia. Induction chemotherapy (cytarabine and idarubicin) initially achieved remission, but subsequent relapses led to the use of venetoclax and 5-azacytidine, which again resulted in remission. Unfortunately, disease progression followed, and the patient ultimately succumbed to AML.

Conclusion: This is the first report that molecularly characterizes the HMBOX1::JAK2 fusion in a de novo AML patient. The identification of this novel alteration adds to the growing and heterogeneous molecular landscape of AML and suggests a potential new avenue for targeted therapy.

Introduction: Esophageal leiomyomas are rare benign tumors representing less than 1% of esophageal neoplasms. They typically arise from the muscularis propria and present in the distal two-thirds of the esophagus. Though often asymptomatic, larger lesions may cause dysphagia, weight loss, or mimic malignancy.

Case presentation: We report a case of a 41-year-old male with a 5-month history of progressive dysphagia and weight loss. Imaging revealed esophageal wall thickening in the upper third of the esophagus. Endoscopic ultrasound (EUS) identified a large hypoechoic submucosal lesion, but fine-needle aspiration (FNA) was nondiagnostic. The patient underwent right thoracotomy with successful enucleation of a 6.5 cm esophageal leiomyoma. Histopathology confirmed a benign smooth muscle tumor with negative margins. Leiomyomas are most frequently located in the mid-to-distal esophagus. Diagnosis can be challenging due to non-specific symptoms and limited biopsy yield. Imaging modalities, particularly EUS, are crucial for evaluating lesion characteristics and guiding management. Surgical approach depends on tumor size, location, and relation to surrounding structures.

Conclusion: This case highlights the diagnostic challenges and therapeutic strategies in managing atypically located esophageal leiomyomas. Surgical excision offers both definitive diagnosis and symptom resolution in such cases.

Introduction: The combination of Wilms tumor (WT) and severe dilated cardiomyopathy (DCM) in infants is a rare occurrence, as is the need for advanced life support with extracorporeal membrane oxygenation (ECMO).

Case presentation: We present a 3-month-old infant with concurrent WT and severe DCM, which required complex management, including urgent veno-arterial (VA) ECMO support and neoadjuvant chemotherapy prior to resection.

Conclusion: This case underscores the exceptional nature of managing an infant with concurrent WT and DCM, highlighting the need for tailored, multidisciplinary approaches. The use of ECMO, neoadjuvant chemotherapy, and careful surgical planning facilitated the successful management of this complex pediatric patient.

Introduction: Leptomeningeal carcinomatosis (LC) is a rare but devastating complication that can arise from various cancers, particularly breast cancer.

Case presentation: We present the case of a female patient with early onset triple-negative breast cancer (TNBC) who developed isolated LC shortly after completing neoadjuvant and adjuvant treatment. The patient had no evidence of parenchymal brain metastases at the time of LC diagnosis. Our patient received treatment with both intrathecal and systemic chemotherapy. While there was a brief period of clinical improvement, she subsequently developed brain metastases and ultimately succumbed to its complications. Isolated LC is an extremely rare occurrence, as leptomeningeal metastasis usually presents concurrently with parenchymal metastases. This case is particularly notable for the development of LC as the sole site of metastasis following completion of adjuvant therapy.

Conclusion: This case highlights the importance of recognizing LC in patients with TNBC, even in the absence of other metastatic sites. Our report, along with a concise review of current literature, aims to improve recognition and treatment options for this rare and clinically heterogeneous entity.

Introduction: Uterine serous carcinoma (USC) is a highly aggressive histological subtype of endometrial cancer that causes almost 40% of deaths related to this cancer, despite accounting for only about 10% of cases of endometrial cancer. This high mortality rate is due to the high metastatic potential of USC and its resistance to treatment. Genetic alterations frequently associated with USC include mutations in TP53 and PIK3CA. BRCA1, a major causative gene of hereditary breast and ovarian cancer, may also contribute to the risk of USC.

Case presentation: We describe a case of USC with a germline pathogenic BRCA1 mutation, and we review the literature in this area. The patient was a 50-year-old woman who had abnormal genital bleeding and was diagnosed with USC by endometrial biopsy. The patient had a history of metachronous breast cancer. Surgical treatment was performed, and a subsequent pathological examination of the resected specimen indicated serous carcinoma in the endometrium and high-grade serous carcinoma in the left fallopian tube. Immunohistochemical analysis confirmed that these tumors originated from different primary sites, leading to diagnosis of synchronous malignancies. Genetic testing identified a germline BRCA1 mutation, and comprehensive genomic profiling of the uterine tumor revealed additional pathogenic mutations in TP53, MAP3K1, RB1, and MYC.

Discussion: Some of these mutations are not common in USC, suggesting a unique genetic profile for USC associated with BRCA1 mutation. This finding suggests that BRCA1-associated USC may be sensitive to poly ADP-ribose polymerase inhibitors, and also raises the question of whether risk-reducing hysterectomy should be considered for patients with BRCA1 mutation.

Conclusion: USC with a BRCA1 mutation may have molecular characteristics distinct from those of sporadic USC, and further accumulation and analysis of such cases are needed to evaluate the clinical implications.

Background: Transomental hernia (TOH) is a rare internal hernia, representing approximately 1-4% of all internal hernia cases. The spontaneous form, occurring in patients without a history of abdominal surgery or trauma, is exceptionally uncommon and presents a significant diagnostic challenge due to its nonspecific clinical features. TOH typically involves herniation of small bowel loops through a defect in the greater omentum.

Case presentation: We report a case of spontaneous TOH in a 76-year-old male undergoing chemotherapy for synchronous primary malignancies - left lung adenocarcinoma and right renal cell carcinoma - who presented with features of intestinal obstruction. Contrast-enhanced computed tomography suggested internal herniation with ischemia. Intraoperative findings confirmed approximately 100 cm of small bowel incarcerated through a 3-cm defect in the right side of the greater omentum. Age-related omental atrophy, along with chemotherapy-induced mesenteric fibrosis, microvascular injury, and impaired regenerative capacity, likely contributed to the defect formation. An emergency midline laparotomy was performed, involving resection of the gangrenous bowel and the creation of a double-barrel enterostomy. Postoperatively, distal enteral refeeding was critical in electrolyte correction, nutritional support, and early recovery.

Discussion: TOH carries a high risk of strangulation and should be considered in elderly patients with bowel obstruction, even with no history of prior abdominal surgery, especially those receiving platinum-based chemotherapy.

Conclusion: Although rare, TOH should be included in the differential diagnosis of acute abdomen in elderly oncology patients, even without previous abdominal surgery. Timely surgical intervention is vital to reduce morbidity and optimize outcomes.

Introduction: Uterine tumors are classified as benign or malignant, with leiomyomas being the most common benign type and leiomyosarcomas (LMSs) being a rare but aggressive form of uterine sarcoma. The clinical similarity between these two tumor types often makes preoperative differentiation challenging, necessitating surgery for a definitive diagnosis. LMSs are highly aggressive with a poor prognosis. We present the case of a 60-year-old woman whose uterine LMS was initially diagnosed as a benign myoma, with deep venous thrombosis (DVT) serving as an atypical presenting sign of her underlying malignancy.

Case presentation: A 60-year-old postmenopausal woman presented with a large, progressively enlarging abdominal mass, which had been identified 5 years prior as a probable leiomyoma. She initially declined surgery but was readmitted 1 month later with a DVT in her left leg, which was attributed to the compressive effect of the large pelvic mass. The patient underwent a total abdominal hysterectomy. Histopathological and immunohistochemical analysis of the 21-cm uterine tumor confirmed a high-grade LMS. Subsequent staging scans revealed Stage IVB metastatic disease in her lungs, liver, and bones. The patient was transitioned to palliative care and passed away 6 weeks after her surgery.

Conclusion: Uterine LMSs can deceptively mimic benign leiomyomas, which may lead to significant diagnostic delays and contribute to poor outcomes. This case highlights that an atypical presentation, such as an idiopathic deep vein thrombosis, should heighten clinical suspicion for an underlying pelvic malignancy, even in the absence of typical gynecological symptoms. Accurate and timely diagnosis is critical and ultimately depends on definitive histopathological evaluation, underscoring the highly aggressive nature and significant mortality associated with this rare cancer.