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  • Natalija Jevdokimova, Denis Jevdokimov, Jelena Ivanova , Sergejs Isajevs, Aiga Staka, Aldis Pukitis
    Views: 88 HTML: 12 PDF: 39

    Background: Primary hepatic epithelioid hemangioendothelioma (HEHE) is an extremely rare tumour of vascular origin with an incidence of <0.1 cases per 100,000 people worldwide.
    Case description: A 29-year-old female with the history of epigastric pain and unintentional weight loss (3 kg over six months) was referred for upper endoscopy. The examination was without visual pathological findings, but a rapid urease test was positive. First-line treatment with clarithromycin-containing triple therapy for Helicobacter pylori infection was given. After completion of eradication therapy, diffuse abdominal pain developed. An abdominal computed tomography (CT) showed multiple liver nodules. Three consecutive core liver biopsies were performed and were inconclusive. A subsequent surgical liver nodule resection was performed. Histopathology of the specimen revealed grade 2 hepatocellular carcinoma; bone scintigraphy was negative for metastasis. A multidisciplinary team (MDT) recommended giving the patient sorafenib, which was poorly tolerated. The histology was reviewed using immunohistochemistry staining at the request of the oncologist, which showed expression of CD31 and CD34. Based on clinical, morphological and immunohistochemistry findings, a diagnosis of hepatic epithelioid hemangioendothelioma was made. Based on the multidisciplinary team's findings, liver transplantation was indicated as the only curative treatment.
    Conclusion: Because of the rarity of this disease, combining clinical, radiological and histopathological methods as well as an MDT approach can help to reach the correct final diagnosis. As demonstrated in this clinical case, it is crucial to perform immunohistochemistry of a liver biopsy to confirm a HEHE diagnosis.

  • Marta Castelli, Mauro Betelli, Anna Valenti, Barbara Merelli, Alessandro Loglio, Mauro Viganò, Alberto Benetti
    Views: 66 HTML: 9 PDF: 35

    We describe a rare case of polyserositis with chylous ascites following nivolumab therapy, highlighting the challenges in recognizing and managing immune-related adverse events (irAEs) associated with immune checkpoint inhibitors (ICPIs).

  • Geeta Bhagia, Nasir Hussain, Fnu Arty, Mithun Chakravarthy, Moneal Shah
    Views: 140 HTML: 13 PDF: 84

    Background: Atypical myxoma has been reported in various locations in the heart, however, myxoma involving the pulmonary valve is rare. Here we present a case of pulmonic valve myxoma which was resected via a percutaneous approach.
    Case Report: A 66-year-old female with known metastatic adenocarcinoma of the lung, and chronic obstructive pulmonary disease presented with acute onset shortness of breath for two days. The patient experienced respiratory arrest en-route to the hospital and required intubation. Computed tomography angiography (CTA) of the chest revealed a new 1.4 x 1.6 cm intracardiac mass along the pulmonary valve. Further evaluation with cardiac magnetic resonance imaging revealed it to be a large vascular tumor on the ventricular side of the pulmonary valve, attached with a narrow stalk. Due to high surgical risk, the patient underwent transesophageal echocardiographic guided percutaneous removal of the mass. Pathology confirmed the mass to be a myxoma.
    Conclusion: Atypical myxoma should be considered in the differential diagnosis of valvular masses. Percutaneous resection of valvular masses may be feasible in high-risk surgical patients.

  • Mustafa Kayabaşı, İlknur Bilkay Görken, İsmet Durak, Aziz Karaoğlu, Ali Osman Saatci
    Views: 195 HTML: 6 PDF: 110

    Background: A case of bilateral multifocal serous retinal detachments and dry eye complicated with unilateral peripheral ulcerative keratitis (PUK) during erdafitinib therapy is described.
    Case description: A 76-year-old male underwent a baseline examination two months after initiating 8 mg erdafitinib therapy (April 2023) due to metastatic urothelial carcinoma. Left subfoveal serous retinal detachment was observed initially but the treatment was resumed as he was asymptomatic. In May 2023, bilateral multifocal subretinal fluid pockets were identified, and the patient was still asymptomatic. However, in June 2023 he complained of bilateral redness and a stinging sensation in his right eye. Bilateral severe dry eye and right PUK were diagnosed. He was prescribed dexamethasone eye drops and sodium hyaluronate artificial tears for both eyes. One week later corneal staining decreased, and progression of PUK ceased. Erdafitinib therapy was discontinued in June 2023 due to the planned transurethral prostatectomy. By July 2023, after discontinuation of the drug and administration of the topical treatment, the dry eye improved and the PUK became inactive. There was also resolution of subretinal fluid pockets in the right eye and a reduction of subretinal fluid pockets in the left eye. After the reinitiation of erdafitinib therapy, serous retinal detachments recurred in both eyes in September 2023, but both corneas remained stable with topical low-dose dexamethasone, cyclosporine-A and artificial tear usage.
    Conclusion: Erdafitinib therapy may lead to concurrent anterior and posterior segment complications. Multidisciplinary monitoring is crucial for patients undergoing erdafitinib therapy to prevent possible visual disturbances.

  • Tong Ren, Jennifer Foster, Alex Wu, Alisher Hamidullah, Eric Sladek
    Views: 119 HTML: 17 PDF: 63

    Positron emission tomography (PET) has gained widespread acceptance as a valuable diagnostic tool for cancer. It is rare for a PET/CT scan to overlook the presence of metastatic disease. Sebaceous carcinoma is an uncommon malignant tumour that typically originates in the skin of the eyelid. In this case report, we present a unique case involving a metastatic sebaceous carcinoma that was not initially detected by a PET/CT scan in an 88-year-old female. Therefore, clinicians must maintain a heightened awareness of sebaceous carcinoma and exercise caution when making decisions solely based on PET scan results. It is crucial to recognise this potential limitation of PET scans in sebaceous carcinoma and consider further diagnostic approaches to ensure timely and accurate detection of sebaceous carcinoma.

  • Antoine Jeri-Yabar, Liliana Vittini-Hernandez, Bharati Dev, Marissa Patel, Meihuan Lin
    Views: 137 HTML: 11 PDF: 68

    Introduction: Diffuse large B-cell lymphoma (DLBCL) is a prevalent subtype of non-Hodgkin lymphoma (NHL) affecting predominantly elderly individuals.
    Case description: A 68-year-old man with a history of hypertension, hyperlipidaemia and a small pituitary gland tumour presented with sudden-onset binocular diplopia and right-eye blurry vision. A magnetic resonance imaging (MRI) of the brain revealed enhancing soft tissue in the right superolateral orbit inseparable from the lacrimal gland, extending medially to the right superior rectus muscle and soft tissue. Further scanning showed widespread metastasis to the bilateral retroperitoneal lymph nodes, adrenal gland, spine and lymph nodes in the neck. A biopsy of the lacrimal gland confirmed DLBCL.
    Conclusion: Primary lacrimal gland DLBCL is a rare and delayed diagnosis that often stems from the resemblance of its clinical manifestations to more benign conditions such as dacryocystitis, dacryostenosis or mucocele. Timely recognition and accurate diagnosis are essential for initiating appropriate treatment and improving patient outcomes.

  • Syed Ather Hussain, Hafsa Faisal, Grace K. Dy
    Views: 164 HTML: 12 PDF: 118

    Introduction: EML4-ALK is an oncogenic driver, seen in around five per cent of advanced non-small-cell lung cancer (NSCLC) patients, which can be targeted with anaplastic lymphoma kinase tyrosine kinase inhibitors with great response rates. Disease flare refers to sudden rapid disease worsening on tyrosine kinase inhibitors (TKI) discontinuation, which is associated with shorter survival and worse outcomes. Here, we review cases previously published in the literature where patients developed disease flares, and contrast this with our patients who had prolonged survival despite TKI discontinuation.
    Case description: We report three different patients with advanced ALK-positive NSCLC seen at our institute, who had EML4-ALK translocation variant 1 oncogenic driver on next-generation sequencing. They received treatment with several different ALK inhibitors before opting to discontinue TKI. They were able to come off TKI safely without developing disease flare and had prolonged survival.
    Discussion: Shorter time to progression on TKI, presence of symptoms with disease progression or central nervous system/pleural metastasis have been previously linked with development of flare, although this was not seen in our case series. Tumour response at the time of treatment discontinuation, line of therapy, overall disease burden, fusion variant and co-alteration status can affect the prognosis of these patients after ALK TKI cessation. In particular, variant 1 and wild-type TP53 status may be a suitable patient population for dose optimisation strategies. Intermittent TKI dosing strategies may help to avoid acquiring resistance mutations and prevent long-term treatment toxicities.
    Conclusion: It is important for clinicians to identify patients at risk for developing disease flare on TKI discontinuation to improve outcomes. Intermittent TKI dosing strategies require further investigation.

  • Diana Amorim, Carolina Miguel Gonçalves, Margarida Cabral, Sónia Silva, Fátima Saraiva, João Morais, Salvato Feijó
    Views: 166 HTML: 18 PDF: 121

    Background: Small cell lung cancer is an aggressive tumor with a poor prognosis that requires prompt treatment. While radiotherapy may enhance survival when superior vena cava syndrome is present, radiation therapy–induced pericardial disease can be a potential complication.
    Case Report: A 55-year-old man, who recently underwent radiotherapy for stage IV small-cell lung cancer complicated by superior vena cava syndrome, presented with chest pain and dyspnea. In the emergency room, he was dyspneic, hypotensive, and tachycardic. Pulmonary auscultation revealed the absence of lung sounds on the right. The initial electrocardiogram showed ST-segment elevation in lateral leads and in lead DII, with reciprocal changes in lead DIII. A bedside transthoracic echocardiogram revealed cardiac tamponade and emergent pericardiocentesis was performed, removing 500 ml of purulent fluid, resulting in an immediate clinical improvement. Thoracentesis was also performed, showing no empyema. Large spectrum empirical antibiotic therapy was started. Cultures from the pericardial fluid and peripheral blood grew multi-sensitive Streptococcus pneumoniae. Cytological analysis of the pericardial fluid was consistent with infection. The patient improved after 2 weeks of targeted antibiotic therapy and underwent the first cycle of chemotherapy. He was discharged with an early scheduled pulmonology appointment.
    Conclusions: Although the most common causes of pericardial effusion in lung cancer are malignant, non-malignant etiologies should also be considered. This patient had an infectious pericardial effusion most probably due to a pericardial-mediastinal mass fistula caused by radiotherapy. This was a diagnostic challenge, both in the emergency room as well in the inpatient setting.

  • Asma Jamil, Ruhma Ali, Amy Paige, Richard Miller, Nirav Mistry, Ahmed Abbas, Abu Tahir Taha
    Views: 216 HTML: 33 PDF: 168

    Prostate cancer can metastasise to the lung. Most common presentations described in the literature are solitary pulmonary nodules, lymphangitic spread and, rarely, pleural effusion.
    We describe a case of prostate adenocarcinoma with diffuse bilateral reticulonodular and lymphangitic pulmonary metastasis, and malignant pleural effusion while being on androgen deprivation therapy.

  • Beatriz R. Sousa, Diogo Faustino, Rita Pocinho
    Views: 144 HTML: 7 PDF: 85

    Internal medicine is the specialty with the most semiological training and it is taught that the combination of a complete clinical history with a thorough physical examination allows for a diagnosis to be reached in the majority of cases. We present a clinical case where an incomplete physical examination interfered with the course of hospitalisation. In a growing technological world where complementary diagnostic tests often allow us to see what is impossible to the eye, the physical examination is often neglected.

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