Case Reports in Oncology最新文献

Introduction: The synchronous presentation of a colorectal adenocarcinoma and a gastrointestinal stromal tumor (GIST) is a rare clinical event that poses significant diagnostic and therapeutic challenges. These two malignancies arise from distinct histogenetic origins and are typically managed with different treatment paradigms. The incidental discovery of a GIST during the workup for a more symptomatic adenocarcinoma complicates surgical planning and requires a comprehensive, multidisciplinary approach to ensure optimal oncologic outcomes.

Case presentation: An 85-year-old female presented with a 6-month history of debilitating fecal incontinence, tenesmus, rectal bleeding, and a 13 kg weight loss. Diagnostic evaluation, including imaging and endoscopy, identified two separate lesions: a large, ulcerated mass in the mid-rectum and a pedunculated mass in the sigmoid colon. Biopsies with immunohistochemical analysis confirmed the rectal mass as a moderately differentiated adenocarcinoma (CK20+, CDX2+) and the sigmoid mass as a spindle-cell neoplasm consistent with a GIST (CD117+, DOG1+). Due to the local invasion of the rectal cancer into the posterior vaginal wall, the patient underwent an open en bloc abdominoperineal resection, which included a hysterectomy, bilateral salpingo-oophorectomy, posterior vaginectomy, and sigmoidectomy. Final pathology confirmed a pT3N0 rectal adenocarcinoma with negative margins and a completely resected 3.5 cm low-risk sigmoid GIST. The patient was followed for 24 months with no evidence of recurrence of either tumor. Postoperatively, her presenting symptoms of tenesmus and bleeding resolved.

Conclusion: This case demonstrates the critical role of immunohistochemistry in confirming synchronous primary tumors. For complex, locally advanced disease, radical upfront en bloc resection remains the gold standard for achieving curative-intent, negative margins, even in the elderly.

Introduction: Kaposi sarcoma (KS) is an angioproliferative neoplasm caused by human herpes virus-8, most commonly affecting immunocompromised individuals, particularly those with HIV/AIDS. While KS typically presents with violaceous cutaneous lesions, visceral involvement, especially in the gastrointestinal and hepatic systems, is rare and often asymptomatic.

Case presentation: We describe an uncommon presentation of AIDS-related KS involving the liver, stomach, and lungs in a 25-year-old male with poorly controlled HIV. Despite the absence of cutaneous manifestations, KS was diagnosed with a high index of suspicion, and appropriate treatment was initiated with antiretroviral therapy along with plans to initiate chemotherapy in the outpatient setting.

Conclusion: This case highlights the importance of considering visceral KS in HIV/AIDS patients even in the absence of skin lesions, as early diagnosis and intervention can improve patient outcomes.

Introduction: Peutz-Jeghers syndrome (PJS) is a rare autosomal dominant disorder characterized by mucocutaneous pigmentation and gastrointestinal hamartomatous polyps. Women with PJS have a significantly increased risk of breast cancer, with surveillance recommended from an early age.

Case presentation: A 36-year-old premenopausal woman with PJS was found to have a suspicious lesion in the right breast during routine ultrasound. Subsequent MRI demonstrated an enhancing lesion extending close to the nipple, and biopsy revealed ductal carcinoma in situ. Mammography showed widespread microcalcifications. She underwent right total mastectomy with sentinel lymph node biopsy, followed by immediate reconstruction with tissue expander and later implant exchange with fat grafting. No adjuvant radiotherapy or systemic therapy was administered. She has remained disease-free for 2.5 years postoperatively.

Conclusion: This case demonstrates that structured breast surveillance in PJS can facilitate early detection of breast cancer. It underscores the clinical value of regular surveillance in hereditary cancer syndromes and supports the inclusion of breast screening as part of the comprehensive management of PJS.

Introduction: The metachronous occurrence of epidermal growth factor receptor (EGFR)-mutant lung adenocarcinoma and acute myeloid leukemia (AML) presents significant clinical challenges. We explore the therapeutic implications of a shared molecular marker, BCL-2, in such a complex multiple primary malignancy scenario.

Case presentation: A female patient in her late 40s with Stage IVB EGFR L858R lung adenocarcinoma exhibiting high BCL-2 expression was treated with radiotherapy and icotinib. Seven months later, she developed AML with t(8;21). Initial AML therapy with a venetoclax-based regimen, selected partially due to the BCL-2 positivity, induced complete remission (CR). Upon AML relapse, a fast in vivo MiniPDX drug sensitivity assay guided the selection of a salvage combination therapy (Selinexor, Decitabine, and Venetoclax).

Conclusion: This salvage regimen successfully induced a second CR in the refractory AML. This case highlights the complexity of managing these distinct malignancies, where the lung tumor's BCL-2 expression provided a rationale for the AML therapy. Furthermore, the MiniPDX assay proved valuable in guiding personalized therapy for refractory disease, demonstrating the potential of functional precision medicine strategies.

Introduction: During staging workup of colorectal cancer (CRC), adrenal incidentalomas (AIs) are frequently identified with an incidence of approximately 9-13%. Among AIs, adrenal adenomas are most commonly detected followed by adrenal myelolipomas (AMLs), presenting a diagnostic and management challenge in cancer staging.

Case presentation: We present a case of well-differentiated carcinoma of the caecum in a male patient who presented with a right iliac fossa mass and severe anaemia without any comorbidities. Colonoscopic biopsy confirmed our diagnosis. During staging workup, CT imaging of abdomen revealed a coincidental left adrenal mass suggestive of myelolipoma. Endocrinal evaluation was performed to rule out functional status of the tumour. It was a normetanephrine secreting tumour though other parameters for pheochromocytoma were within normal limit creating diagnostic confusion. The patient underwent simultaneous right hemicolectomy and left adrenalectomy. Histopathological examination confirmed the diagnosis of AML concurrent with carcinoma caecum. The patient's post-operative course was uneventful. Patient received complete adjuvant treatment and under regular follow-up.

Conclusion: This case highlights the importance of detailed preoperative evaluation and management of AIs discovered during staging workup of colon carcinoma. While most AIs are benign, appropriate radiological and functional assessment is crucial for optimal surgical planning. Our case demonstrates the need for simultaneous resection of CRC and AML when the diagnosis is inconclusive.

Introduction: Schwannomas are common benign tumors that develop in the peripheral nerves and are common in intradural extramedullary lesions of the spine. However, intraosseous schwannoma is extremely rare.

Case presentation: A 24-year-old man experienced back pain for 5 months. Imaging revealed a lytic lesion with marginal sclerosis in the body of the 12th thoracic vertebra, with vertebral collapse, thinning, and bulging of the posterior margins of the vertebral body. Needle biopsy suggested a benign neurogenic tumor, and a total en bloc spondylectomy was performed. Postoperative pathological examination revealed an intraosseous schwannoma.

Conclusion: Although intraosseous schwannoma is rare, intraosseous vertebral schwannoma can occur, as observed in this case; therefore, clinicians should be aware of this condition and consider it as a differential diagnosis for vertebral tumors.

Introduction: Bone metastasis is common in breast cancer, causing pain, myelosuppression, and hypercalcemia. However, bone marrow invasion leading to pancytopenia is exceedingly rare, and its optimal treatment remains a subject of debate. This report presents the first such case from Vietnam, where chemotherapy proved effective.

Case presentation: A 47-year-old female patient presented to the emergency department with cough, dyspnea, and back pain. Initial laboratory tests revealed WBC 21.83 G/L, neutrophil 10.97 G/L, Hct 27.3%, Hgb 87 g/L, and PLT 22 G/L. Further examination identified a left breast tumor with skin invasion, as well as metastases to the bone, liver, lungs, pleura, cervical lymph nodes, and mediastinal lymph nodes. Bone marrow aspiration confirmed the presence of malignant cell invasion. The patient responded well to chemotherapy with doxorubicin and cyclophosphamide, with platelet counts recovering immediately after the first cycle.

Conclusion: Bone marrow infiltration causing pancytopenia is a rare but serious manifestation of metastatic breast cancer. Management should follow general principles for metastatic breast cancer. Chemotherapy can be considered when rapid disease control is needed or in patients with marrow failure, provided that doses are individualized and treatment is closely monitored. Further data are required to better define optimal therapy in this setting.

Introduction: Rhabdomyosarcoma (RMS) rarely exhibits the TFCP2::FUS gene fusion and is even more rarely present as multiple cutaneous lesions.

Case presentation: We describe the case of a 48-year-old man who presented with multiple cutaneous masses eroding through the skin as well as visceral metastases following two previous resections for cutaneous neoplasms. Histopathology showed spindle morphology and positive staining for keratins, desmin, MYOD1, and myogenin. Genetic sequencing showed a noncanonical TFCP2::FUS fusion that, in combination with the immunohistochemistry, was diagnostic of RMS. He was treated with vincristine, dactinomycin, and cyclophosphamide, followed by cabozantinib and pembrolizumab, and finally pembrolizumab and concurrent radiation therapy to the targetable lesions. He had a continual, rapid progression of disease and expired 2 months following radiation.

Conclusion: This case is notable because it presents a rare example of an aggressive, TFCP2::FUS gene fusion-positive RMS presenting with multiple cutaneous metastases, and highlights that this entity is highly resistant to multiple chemotherapies, immunotherapy, and radiation therapy.

Introduction: Epithelioid trophoblastic tumor (ETT) is a rare form of gestational trophoblastic disease (GTD) that primarily affects women of reproductive age. The presence of extrauterine ETT poses additional challenges in management, as treatment guidelines remain inconsistent. Fertility preservation is often a key consideration in this patient population. This article highlights a case of ETT with isolated sole site metastasis to the lower lobe of the left lung. It was successfully managed with surgical resection, leading to sustained remission in a premenopausal woman desiring future pregnancies.

Case presentation: A 34-year-old woman (G2P1011) presented with persistent low-level beta-human chorionic gonadotropin (β-HCG) elevation for over 3 years with no clear underlying cause. She was being followed by her primary gynecologist for a menstrual abnormality, reporting the passage of "grape-like" clots with menses, but was otherwise asymptomatic. Initial workup spanning 2019-2020 including pelvic ultrasound, magnetic resonance imaging (MRI) of the brain and pelvis, and positron emission tomography-computed tomography (PET-CT) were negative for radiographic abnormalities. When the β-HCG level notably increased in 2023, the patient was treated at an outside hospital with three doses of methotrexate for presumed ectopic pregnancy. Her β-HCG levels remained elevated despite this treatment. Follow-up skull-base-to-mid-thigh PET-CT revealed a lobulated hypermetabolic nodule in the superior segment of the left lower lobe of the lung. No other disease was identified on PET-CT, pelvic US, or MRI brain. The patient underwent a video-assisted thoracoscopic surgery wedge resection, and pathological analysis confirmed ETT. Within 2 weeks postoperatively, her β-HCG levels declined to <3.0 mIU/mL and have remained undetectable for 18 months.

Conclusion: ETTs are among the rarest forms of GTD. ETT rarely presents outside the uterus and often demonstrates poor response to chemotherapy. This case report highlights a unique presentation of primary pulmonary ETT, successfully managed with surgical resection alone, achieving sustained remission without chemotherapy. In women of reproductive age with persistently elevated β-HCG levels of unclear origin, ETT should remain a consideration. While surgical management may be a viable treatment option for tumors with sole site metastasis, close postoperative monitoring is essential.

Introduction: Drug-induced sclerosing cholangitis (SC) is uncommon and has been only rarely reported with paclitaxel, bevacizumab, or trastuzumab deruxtecan (T-DXd). We report a suspected SC following these therapies for metastatic breast cancer, underscoring a possible association with taxane-based chemotherapy and antibody or antibody-drug conjugates.

Case presentation: A 58-year-old woman with metastatic hormone receptor-positive, human epidermal growth factor receptor 2-low breast cancer developed cholangitis 17 days after receiving the first cycle of T-DXd, following prior treatment with paclitaxel and bevacizumab. The symptoms improved with antibiotic therapy. However, fever and jaundice recurred on day 49. Imaging studies revealed intrahepatic and extrahepatic bile duct dilation and stricture. SC was suspected based on imaging and clinical course. Histopathological examination showed fibrosis without evidence of malignancy or infiltration by IgG4-positive cells, raising suspicion of drug-induced SC. Due to repeated episodes of cholangitis, the patient's performance status deteriorated, making further chemotherapy unfeasible. The patient opted for best supportive care and died on day 99.

Conclusion: This case highlights the possibility of SC as a delayed adverse event of anticancer chemotherapy. Clinicians should consider drug-induced SC when unexplained biliary strictures arise during or after chemotherapy, as early recognition may impact prognosis and treatment planning.