Project description:BackgroundParathyroid carcinoma is a rare and challenging malignancy, often confirmed by histopathological analysis. Due to its rarity, it can present in atypically. We present a case of parathyroid carcinoma with an unusual course of pulmonary metastasis emphasizing the complexities of its diagnosis and management.Case descriptionA 38-year-old lady was referred to our department when her newborn was found to have hypoparathyroidism. Laboratory tests showed elevated parathyroid hormone (PTH) and adjusted calcium levels. Imaging studies suggested the presence of parathyroid tumors, and histopathology confirmed parathyroid carcinoma. Immunohistochemistry was positive for GATA3 in the tumor cells, and next generation sequencing revealed CDC73 mutation, MYC rearrangement, ASXL1 mutation, and a tumor mutational burden (TMB) of 11 Muts/Mb. Despite surgical intervention and initial remission, she developed pulmonary metastasis, which was surgically addressed. She is currently under immunotherapy with six cycles of pembrolizumab due to recurrence.ConclusionsThis case highlights the importance of prolonged surveillance and imaging for parathyroid carcinoma due to recurrence and metastasis. Aggressive resection of parathyroid carcinoma and metastasis are important to decrease mortality. This case also highlights the importance of genetic factors, like CDC73 mutations, confirmed in this study.
Project description:Adenoid cystic carcinoma (ACC) is a malignant neoplasm, frequently affecting the salivary glands, and rarely occurring in other locations. ACC is characterized by slow growth, perineural invasion, local and late recurrence after original treatment. However, renal metastasis of ACC is very rare. To our best knowledge, only 11 cases of ACC metastasis to the kidney have been reported in the English literature to date. Herein, we presented a rare case of a 70-year-old man with renal metastasis from ACC of the right lung after 3 years of primary presentation. Our patient underwent right radical nephrectomy and histologically confirmed as Metastatic Adenoid Cystic Carcinoma.
Project description:BackgroundPancreatic ductal adenocarcinoma (PDAC) accounts for 90% of all pancreatic carcinomas. Prognosis is poor with a worldwide five-year survival rate of 2-9%. Extent of metastasis is a prognostic factor. Most common metastatic sites include the liver, peritoneum, lung, and bones. We report a case of distant metastasis of PDAC to the left choroid.Case descriptionThis patient is a 59-year-old Caucasian male who initially presented with right flank pain progressing to exercise and activity impairment. Abdominal computed tomography scan showed a pancreatic tail mass subsequently confirmed as PDAC via endoscopic ultrasound with fine needle aspiration. Prior to treatment initiation, patient was referred to ophthalmology for acute vision changes. Evaluation revealed left eye pigmentary changes overlying subretinal fluid (SRF) along with peripheral retinal depigmentation indicative of choroidal metastasis. As of this report submission, patient has completed his initial 6-month course of gemcitabine/paclitaxel protein-bound/cisplatin with partial response. He remains active on his second line of chemotherapy. Visual disturbances and evidence of choroidal metastasis continue to resolve.ConclusionsPDAC is often identified at a late stage, with metastasis or local advancement identified in 80-85% of first diagnoses. This is thought to account for its poor median survival of two to eleven months. The retinal choroid is an extremely rare site of PDAC metastasis, with less than ten cases reported in literature. In this patient, the choroid was the first confirmed metastatic site and represented distant metastasis. Nevertheless, this patient continues to do well and is expected to exceed the upper bound median survival of 11 months following systemic chemotherapy. From this case, we note that distant metastasis prior to treatment initiation may not predict worse prognosis. Systemic chemotherapy was effective in both primary tumor shrinkage as well as regression of choroidal metastasis, leading to improvement in visual symptoms. This suggests that while choroidal metastasis should not be missed in patients with PDAC, systemic chemotherapy may be effective in mitigating collateral symptomatology and thus preserving quality of life.
Project description:Introduction and significanceCardiac dissemination of gastric adenocarcinoma represents an exceedingly uncommon clinical scenario. To date, there is an absence of documentation concerning the presence of tumor emboli within the cardiac chambers originating from gastric cancer, particularly following a possible transvenous migration.Case presentationThis report delineates the clinical journey of a 60-year-old female diagnosed with inoperable diffuse gastric adenocarcinoma, who developed cardiac metastases.Clinical discussionThe prognostication of isolated cardiac metastasis in oncology patients is fraught with difficulty due to its infrequency and non-specific clinical manifestations. While systematic screening for cardiac metastasis is not part of standard oncological protocols, heightened vigilance is warranted in specific scenarios such as advanced-stage malignancies or in the presence of suggestive cardiac symptomatology, thereby prompting further exploration.ConclusionCardiac metastasis, while infrequent, constitutes a dire clinical entity that must be contemplated in the differential diagnosis of cardiac mass presentations in individuals with a neoplastic history. Prompt recognition and deployment of appropriate diagnostic imaging are pivotal for informed therapeutic decision-making. An integrative, multidisciplinary strategy is imperative for the formulation of an optimal treatment paradigm, encompassing surgical and palliative care options.Key clinical messageCardiac metastasis of gastric adenocarcinoma are extremely rare, however, in gastric cancer cases with cardiopulmonary manifestation should be considered as a probable differential diagnoses.
Project description:Colorectal cancer commonly metastasizes to the regional lymph nodes, liver, lungs and peritoneum. At present, mediastinal lymph node metastasis from colorectal cancer is uncommon and poorly understood. The present study reported a case of solitary anterior mediastinal lymph node metastasis with pericardial invasion from transverse colon cancer. An 82-year-old woman had a history of colectomy with regional lymph node dissection for transverse colon cancer (T1N1bM0 stage IIIA in the UICC classification). The patient had no symptoms, but follow-up contrast-enhanced computed tomography revealed an anterior mediastinal tumor compressing the heart 18 months after colectomy. The tumor showed fluorodeoxyglucose uptake on positron emission tomography. Resection of the anterior mediastinal tumor with pericardiectomy was performed. The tumor was 35x25 mm in size and was histopathologically characterized to be adenocarcinoma. These cells expressed cytokeratin (CK)20 and caudal-type homeobox protein 2 but not CK7 and thyroid transcription factor 1 on immunohistochemical analysis, confirming a diagnosis of metachronous mediastinal metastasis originating from colon cancer. The tumor cells invaded the adjacent pericardium and diaphragm pathologically. The patient has lived without recurrence 8 months after the surgery for mediastinal metastasis. In conclusion, clinicians should consider metastasis to the mediastinum during follow-up in patients with colorectal cancer. Surgery may be the most reliable treatment for solitary anterior mediastinal lymph node metastasis, preventing carcinomatous pericarditis through direct pericardial invasion.
Project description:Primary lung adenocarcinoma, diffuse pneumonic type, can mimic the clinical presentation of an infectious or inflammatory lung disease, which can represent a diagnostic challenge. We present an unusual case of adenocarcinoma of the lung refractory to treatment, associated with rapid deterioration of respiratory status, ARDS requiring intubation and ultimately death.
Project description:BackgroundPrimary pericardial sarcomas are extremely rare malignancies. In this case of primary pericardial synovial sarcoma, we discuss the initial steps to work-up pericardial effusions and review features that warrant more detailed investigation.Case summaryA 29-year-old male with no relevant past medical history presents with a few weeks of fatigue, dyspnoea, orthopnoea, leg swelling, and back pain. Transthoracic echocardiogram revealed pericardial effusion for which pericardiocentesis and drain placement were done. He was discharged with a diagnosis of post-viral pericarditis. He returned 5 months later with worsening symptoms. Advanced imaging with cardiac magnetic resonance imaging (CMR) showed heterogeneous pericardial mass later revealed to be a high-grade synovial sarcoma on biopsy. The patient was started on a doxorubicin-based chemotherapy regimen, but due to kidney dysfunction and multi-organ failure, he was transitioned to palliative care measures.DiscussionTransthoracic echocardiogram and computed tomography are often the initial tests of choice for pericardial effusions with pericardiocentesis recommended for effusions with tamponade physiology, for moderate-to-large effusions, or if there is concern for infection/neoplasm. Due to improved tissue characterization and spatial resolution, CMR and positron emission tomography should also be considered for atypical or recurrent pericardial effusions to assess for less common aetiologies such as malignancy.
Project description:Introductionand importance: Hypothyroidism is an endocrine disorder with multiorgan involvement and various complications. One of the significant but less often seen complications is pericardial effusion. Since it can progress to life-threatening conditions like cardiac tamponade and hemodynamic instability, early diagnosis, and management of the pericardial effusion in hypothyroidism is a must.Case presentationWe present a case of a 35-year-old male who presented with bilateral lower limb swelling, facial puffiness, cold intolerance, fatigue, and hoarseness of voice for one week. Laboratory investigation showed high thyroid-stimulating hormone (TSH), low triiodothyronine (T3), and raised serum anti-thyroid peroxidase (anti-TPO). The lipid profile demonstrated hypertriglyceridemia. Ultrasonography of the neck revealed normal thyroid size with decreased echo texture and increased vascularity. An electrocardiogram showed low voltage complexes with sinus bradycardia. 2D echocardiography revealed minimal pericardial effusion with normal ventricular function. The patient was managed with thyroxine therapy which gradually resolved his symptoms and pericardial effusion.Clinical discussionPericardial effusion in hypothyroidism is due to the increased capillary permeability and albumin distribution volume and reduced lymph drainage in the pericardial cavity. Its presence in mild cases of hypothyroidism is uncommon although it can be seen in severe, long-standing hypothyroidism. Pericardial effusion in hypothyroidism, though rare, can present in mild cases and if overlooked can be fatal due to conditions like cardiac tamponade.ConclusionWith early cardiac assessment and adequate thyroid replacement therapy, pericardial effusion in hypothyroidism can be reversible at an early stage. So, pericardial effusion which can be overlooked in mild cases of hypothyroidism needs to be identified and managed early.
Project description:BackgroundPericardial tumours are unusual and may be difficult to characterise with imaging. They manifest as large, non-contractile, solid masses within the pericardium. Presenting symptoms include heart failure, arrythmias, sudden death, cyanosis and chest pain.Case presentationWe describe a case of massive pericardial fibroma in a 52 year old woman, who presented with palpitations only.ConclusionWe illustrate the different imaging modalities available to image this tumour prior to surgical resection, and indicate the strengths and weaknesses of each.