Case Reports in Oncological Medicine最新文献

Epithelioid hemangioendothelioma (EHE) is an extremely rare vascular sarcoma that can initially present with a myriad of symptoms anywhere in the body. Imaging findings are often nonspecific, and the pathology tends to have overlap with other malignancies. As a result, it can be quite difficult to suspect and diagnose EHE. We present a case of pulmonary EHE in a 41-year-old female with left pleural thickening and subclavian tumor thrombus who was initially misdiagnosed and treated as mesothelioma. This instance demonstrates the importance of maintaining a broad differential and the utilization of repeat biopsies and next-generation sequencing for questionable diagnoses of atypical malignancies.

Nonbacterial thrombotic endocarditis is a rare condition characterized by the formation of noninfectious vegetations on the heart valves. It is related with systemic embolic phenomena occurring predominantly in advanced cancer stages, particularly adenocarcinomas. It is a diagnosis of exclusion based on the clinical context, echocardiographic findings of a vegetation, and negative blood cultures, and distinction between infective endocarditis is challenging. We report a case of a 66-year-old woman, with history of previously treated breast and urothelial carcinoma, presenting with constitutional syndrome and pulmonary thromboembolism. Computed tomography scan revealed systemic embolic phenomena and retroperitoneal lymphadenopathies. A vegetation in the mitral valve constituted a finding on echocardiography, causing severe mitral regurgitation, which led to severe acute heart failure and culminated in patient's death. Subsequent results of immunohistochemistry of the lymph node biopsy yielded the recurrence of urothelial carcinoma.

Ichthyosis vulgaris (IV) is an inherited disorder characterized by the scaling of the skin. It is caused by mutations in the filaggrin gene. IV is a reactive skin manifestation that may be associated with malignant hematological disease. Its association with neoplastic diseases such as Hodgkin lymphoma, anaplastic large-cell lymphoma, and mycosis fungoides has been reported. T-cell non-Hodgkin lymphoma (T-NHL) with ichthyosis has been rarely reported in the literature. Here, we report a case of T-cell lymphoma with congenital IV caused by a desmoglein 1 (DSG1) gene mutation associated with hyper-IgE syndrome (HIES). A 7-year-old male patient with a diagnosis of congenital IV had a biopsy performed at an external center due to multiple lymphadenopathies, which revealed T-cell lymphoblastic lymphoma. A homozygous variant in the DSG1 gene was detected through whole-exome sequencing. The diagnosis of HIES was confirmed through clinical evaluation, including elevated serum IgE levels and associated symptoms. Skin findings, growth retardation, and HIES overlap with Online Mendelian Inheritance in Man (OMIM) #615508, and parental carrier status was confirmed. The association between ichthyosis and lymphoma was determined based on the presence of lymphoma in a patient with congenital ichthyosis and the identification of a genetic mutation in DSG1. In conclusion, the coexistence of lymphoma and IV is rare. The mechanisms of their formation are different, and they can occur independently. Rare genetic syndromes or inherited diseases can cause different health problems, such as lymphoma and ichthyosis, to occur together.

In the past decade, the use of immune checkpoint therapy (ICT) has increased across many malignancies, including metastatic renal cell carcinoma as an option for frontline and subsequent lines of therapy. Despite the many therapeutic benefits of ICT, its use is complicated by the potential risk of immune-related adverse events (irAEs). One rare but potentially life-threatening irAE is hemophagocytic lymphohistiocytosis (HLH). HLH is a systemic inflammatory disorder resulting in multiorgan failure. The diagnosis of HLH is a challenge due to nonspecific symptoms and overlap with other systemic conditions, which can lead to delays in receiving appropriate treatment and potentially poor patient outcomes. This case illustrates the management of HLH caused by nivolumab plus ipilimumab combination therapy through the use of corticosteroids and tocilizumab in a patient with metastatic clear cell renal cell carcinoma.

Atypical femoral fractures (AFFs) are rare fractures usually associated with medications that can ultimately alter bone metabolism. Imatinib, a drug prescribed for treatment of chronic myeloid leukemia (CML), has been associated with altered bone homeostasis, however, with unknown clinical significance. Here, we present the case of a 17-year-old female, with a diagnosis of CML undergoing chronic imatinib therapy, who developed an AFF treated successfully with prophylactic fixation with intramedullary nailing. Our case underscores the importance of prompt recognition of this entity to allow patients timely appropriate care, even at an early age.

Digital papillary adenocarcinoma (DPA) is a rare malignant eccrine tumor often misdiagnosed as a benign condition. A 57-year-old Caucasian male with recurrent paronychia and a subcutaneous mass on the distal phalanx of the right fourth digit was diagnosed with DPA after seeking hand surgery evaluation 5 years following onset. A marginal excisional biopsy was positive for Staphylococcus aureus infection and DPA, leading to surgical excision with transmiddle phalangeal amputation for negative margins. DPA, while rare, often presents insidiously, leading to delayed diagnosis and increased risk of metastasis. This tumor has high rates of recurrence and metastasis, most commonly to pulmonary and lymphatic sites. Accurate diagnosis of DPA is challenging due to its resemblance to multiple benign cutaneous conditions. Current treatments focus on surgical excision, with an emphasis on negative margins. Sentinel lymph node biopsy is not routinely performed, although guidelines are difficult to establish due to the rarity of DPA. Diagnosing and treating DPA minimizes metastasis and recurrence. DPA should be considered in patients presenting with recalcitrant or recurring cutaneous lesions. Surgical management remains the primary treatment strategy, with ongoing research needed to optimize treatment protocols and follow-up care.

Li-Fraumeni syndrome (LFS) is one of the most common hereditary cancer predisposition syndromes in Brazil. The high frequency of the syndrome is due to a founding variant (R337H) in the country. LFS is characterized by a wide variety of malignant phenotypes. Despite the great epidemiological importance of the R337H variant, the frequency of other types of pathogenic variants is like other populations, with the majority of these being missense variants. There is strong evidence that radiotherapy is associated with secondary sarcomas, including angiosarcomas, and this finding is especially true for LFS patients. Angiosarcoma is not described as overrepresented in individuals with LFS, except in patients submitted to radiotherapy. Germline testing in all breast cancer patients under 65 will reveal many germline mutations in TP53 without a family history of cancers associated with the syndrome. We present a case of a previously undescribed pathogenic variant in TP53 (c788del, pAns263llefs⁣^∗82) in a patient with no family history of cancer, with a previous diagnosis of breast carcinoma treated with radiotherapy, who developed angiosarcoma after a few years leading to germline testing. The presence of angiosarcoma in a radiotherapy bed should raise suspicion for LFS. The recent recommendation of testing breast cancer patients under the age of 65, even without any family history, can be a source of discoveries of new mutations and assist in therapeutic decisions.

This case series highlights the complexity of sarcoidosis-like reactions (SLRs) during cancer treatment, specifically in patients receiving immunotherapy or targeted therapies for melanoma. SLRs can either mimic disease progression or present as part of the clinical manifestation, making diagnosis and treatment challenging. Our study reviewed the medical records of 31 patients who were candidates for postoperative treatment between June 2022 and June 2024. Out of these, three patients developed SLRs during their treatment. A 55-year-old woman with Stage IIIb cutaneous melanoma, receiving adjuvant therapy with anti-PD-1, after seven cycles of pembrolizumab, developed mediastinal node enlargement and skin hypodermic nodes. A biopsy of the hypodermic node revealed granulomatous infiltrates with sparse lymphocytes, consistent with sarcoidosis. A low dose of steroids was administered, resulting in a dramatic improvement. A 48-year-old woman with Stage IIIb BRAF wild-type melanoma, receiving nivolumab every 4 weeks, developed systemic sarcoidosis after seven cycles, primarily affecting extrapulmonary sites. Despite the immune-induced sarcoidosis, her treatment was not stopped, as decided by the multidisciplinary team (MDT). A 65-year-old man with Stage IIIb BRAF-mutant melanoma, receiving dabrafenib and trametinib, developed lung and cutaneous sarcoidosis, presenting with symptoms that led to emergency department admission. In all cases, the MDT played a crucial role in determining the course of treatment and balancing the risks of continuing or suspending cancer therapies while managing SLRs. National and international guidelines were consulted, but tailored decisions by the MDT were essential for optimizing patient care.

Background: Lymphangitic carcinomatosis (LC), a hallmark of advanced metastatic cancer with a poor prognosis, primarily impacts the lymphatic system of the lungs, manifesting as progressive breathlessness, cough, or hemoptysis. While prostate cancer commonly metastasizes to bones and regional lymph nodes, lung involvement is rare. This case features a patient in generally good health who presented with an insidious dry cough, leading to a diagnosis of Stage 4 prostatic adenocarcinoma with rare lymphangitic spread to the lungs. Case Presentation: A 70-year-old male in good health presented with chest tightness, a dry cough, and sudden left testicular swelling. Imaging revealed interstitial lung markings, severe left hydronephrosis, and prostatomegaly. A prostate biopsy confirmed adenocarcinoma. A PET-CT scan raised significant concern for LC, prompting the initiation of urgent inpatient chemotherapy with docetaxel. Conclusion: LC is a metastatic pattern commonly associated with solid tumors, particularly breast, gastric, and lung cancers. Its occurrence in prostate cancer is exceptionally rare. This condition is typically linked with advanced disease and a poor prognosis, often serving as a critical indicator of an underlying malignancy that may otherwise go undetected.

Sinonasal malignancies (SNMs) are rare heterogeneous malignancies that frequently present with locally advanced disease. The prognosis is poor when the disease is considered extensive and unresectable. In such cases, a high-dose palliative radiotherapy regimen is often required, but the ideal dose and fractionation have not been established. We detail a 33-year-old male who initially presented with a progressively growing mass over the right cheek. A biopsy of the lesion revealed squamous cell carcinoma (SCC). Imaging revealed a very advanced and unresectable disease with the involvement of several head and neck subsites. He progressed further after receiving induction chemotherapy from an outside institution. The patient requested prompt tumor and symptom control to travel back to his home country. We offered him high-dose split-course palliative radiotherapy in the form of a quad Shot of 14.80 Gy in four fractions twice daily, followed by 30 Gy in five fractions every other day with a 2-week interval. Treatment resulted in excellent clinical response with symptomatic relief in a short time, and the patient could travel back home safely.