A Case Report of Cholangiocarcinoma Arising from a Biliary Adenofibroma: Radiologic Findings and Review of Literature 담도선섬유종에서 발생한 담관암: 증례 보고 및 문헌적 고찰
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PROVIDER: S-EPMC9432435 | biostudies-literature | 2021 May
REPOSITORIES: biostudies-literature
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Project description:Bullous pemphigoid (BP) is a rare, life-threatening autoimmune blistering disease with pruritus and tension blisters/bullous as the main clinical manifestations. Glucocorticosteroids are the main therapeutic agents for it, but their efficacy is poor in some patients. Tofacitinib, a small molecule agent that inhibits JAK1/3, has shown incredible efficacy in a wide range of autoimmune diseases and maybe a new valuable treatment option for refractory BP. To report a case of refractory BP successfully treated with tofacitinib, then explore the underlying mechanism behind the treatment, and finally review similarities to other cases reported in the literature. Case report and literature review of published cases of successful BP treatment with JAK inhibitors. The case report describes a 73-year-old male with refractory BP that was successfully managed with the combination therapy of tofacitinib and low-dose glucocorticoids for 28 weeks. Immunohistochemistry and RNA sequencing were performed to analyze the underlying mechanism of tofacitinib therapy. A systematic literature search was conducted to identify other cases of treatment with JAK inhibitors. Throughout the 28-week treatment period, the patient experienced clinical, autoantibody and histologic resolution. Immunohistochemical analysis showed tofacitinib significantly decreased the pSTAT3 and pSTAT6 levels in the skin lesions of this patient. RNA sequencing and immunohistochemical testing of lesion samples from other BP patients identified activation of the JAK-STAT signaling pathway. Literature review revealed 17 previously reported cases of BP treated with four kinds of JAK inhibitors successfully, including tofacitinib (10), baricitinib (1), upadacitinib (3) and abrocitinib (3). Our findings support the potential of tofacitinib as a safe and effective treatment option for BP. Larger studies are underway to better understand this efficacy and safety.
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Project description:Marjolin's ulcer is a squamous cell carcinoma that develops in posttraumatic scars and chronic wounds. It was first noted to be associated with chronic osteomyelitis in 1835 and is usually described occurring in lower extremity wounds. Suspicion of such lesions should be raised in chronic wounds demonstrating characteristic changes. Impaired immunologic activity in chronic wounds has also been shown to contribute to the pathologic process. Definitive treatment in the past has been amputation proximal to the tumor, however; recently, wide resection and radiation therapy have been used. According to Lifeso et al., wide local excision is unreliable and they recommend amputation in grade II or III disease and wide local excision in very small lesions that can be radically excised or in grade I lesions. We report a case of a Marjolin ulcer that developed at the elbow. Physicians should have a high index of suspicion in chronic wounds that are recalcitrant to therapy and should remember to biopsy all suspected lesions. Early recognition and definitive treatment are the mainstays ensuring the best prognosis.
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Project description:Background: One of the most serious complications of cranial radiotherapy is the development of radiation-induced glioma, which is estimated to occur in 1 to 4% of patients who have received cranial irradiation and has a worse prognosis than sporadic glioblastoma. To date, owing to its rarity, no standard of care has been established for radiation-induced glioma. Although comprehensive genetic analysis has recently uncovered the molecular characteristics of radiation-induced glioma, the full picture remains unclear, and the molecular features associated with treatment response and prognosis are poorly understood. Case presentation: A 45-year-old man presented with generalized seizures caused by multiple brain tumors involving the right frontal lobe, thalamus, and brainstem. The patient had a history of whole-brain radiotherapy for the recurrence of Burkitt's lymphoma at the age of 12. He underwent craniotomy, and the histological diagnosis was a high-grade glioma with isocitrate dehydrogenase-wildtype, which was presumed to be a radiation-induced glioma that developed 33 years after whole-brain irradiation. The Heidelberg DNA-methylation brain classifier most closely matched diffuse pediatric-type high-grade glioma, receptor tyrosine kinase-1 subtype, which is a typical methylation class of radiation-induced glioma. Methylation-specific polymerase chain reaction showed that the O6-methylguanine-DNA methyltransferase gene promoter was unmethylated. Next-generation sequencing identified CDKN2A/B deletion as well as co-amplification of several receptor tyrosine kinase-encoding genes including PDGFRA, KIT, and KDR, which are all located on chromosome 4q12. Amplification of this region is present broadly across cancers and is associated with a poor prognosis in sporadic glioblastoma. Nevertheless, the patient received conventional chemoradiotherapy with temozolomide. Subsequent multimodal imaging with magnetic resonance imaging and 11C-methionine positron emission tomography revealed complete remission of all lesions. Two years later, the patient is currently alive with a favorable performance status. Conclusions: Despite radiation-induced glioma with molecular features suggestive of an aggressive phenotype, our patient unexpectedly responded well to conventional chemoradiotherapy, resulting in complete remission that is exceptional in sporadic glioblastoma. Our case indicates that some of the radiation-induced gliomas may have distinct molecular characteristics involved in the therapeutic response that differ from those of sporadic glioblastomas.
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Project description:Extrauterine endometrial stromal sarcoma (ESS) arising in endometriosis is extremely rare, particularly in the colorectum. It should always be included in the differential diagnosis of primary tumors originating from gastrointestinal tract in females, given that preoperative endoscopical biopsy may reveal no specific changes. We reported a case of ESS arising in colorectal endometriosis and reviewed the previous 7 cases reported in the English literature. Our patient, who was unavailable for tumor resection and refused further adjuvant therapy, played a role in representing the natural history of low-grade extragenital ESS. This case was the only death from ESS arising in colorectal endometriosis.
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Project description:BackgroundDiprosopus is one of the rarest anomalies. It typically manifests as bilateral alterations and often involves anomalies within the cranial structures. In this report, we present a case of a fetus with diprosopus diagnosed prenatally. Along with reviewing relevant literature on prenatal ultrasound diagnosis of diprosopus, we aim to raise awareness of its ultrasound characteristics.Case presentationWe report a case of craniofacial and intracranial abnormalities detected during a 26-week ultrasound examination. Two-dimensional ultrasound (2D ultrasound) demonstrates significant increases in head circumference, widening of the interocular distance, and abnormal echo patterns in the facial structure. Three-dimensional ultrasound (3D ultrasound) revealed the presence of three eye sockets (the lateral eye sockets contained eyeballs, while the central region exhibited fusion without visible eyeballs), two noses, and two mouths, with no abnormalities observed in other areas. The ultrasound findings suggested diprosopus. Following risk counseling at the prenatal diagnosis center, the pregnant woman decided to induce labor. The newborn passed away thirty minutes after delivery. The facial features of the newborn were consistent with the 3D ultrasound imaging, and the appearance of the trunk and limbs was normal. Both CT and MRI scans confirmed the diagnosis of diprosopus.ConclusionThe prenatal 2D ultrasound revealed intracranial and facial abnormalities in the fetus. 3D ultrasound imaging clearly displayed the facial duplication anomalies, highlighting the advantages of 3D ultrasound in diagnosing diprosopus. We hope to raise awareness of this rare condition and provide insights into prenatal ultrasound diagnosis through this case.
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Project description:BackgroundEctopic thyroid is a rare disease, with ectopic thyroid in the porta hepatis being extremely rare. We present a rare case involving an infant with biliary atresia (BA) wherein ectopic thyroid tissue was incidentally discovered in the porta hepatis after the Kasai operation.Case descriptionA 2-month-old boy initially presented with jaundice, manifesting as yellow skin and sclera, on the first day following birth. After receiving treatment at a local healthcare facility, jaundice partially subsided, but the color of his stool became lighter 15 days before admission to Tianjin Children's Hospital. Upon B-ultrasound examination at our outpatient clinic, the patient showed bilateral oblique hernia, bilateral testicular hydrocele, and umbilical hernia, and he was admitted to the Department of Gastroenterology at Tianjin Children's Hospital for further treatment of unexplained jaundice. Laparotomy was performed after a comprehensive evaluation, during which we observed the gallbladder to be small and poorly developed. Cholangiography was then performed, revealing visualization of the gallbladder and common bile duct but not the common hepatic duct or right and left hepatic ducts. Intraoperative frozen section examination of wedge-shaped liver tissue indicated findings consistent with extrahepatic biliary obstruction. The Kasai operation was subsequently performed, and an examination of the gallbladder and a fibrous plaque from the porta hepatis after the operation revealed the presence of ectopic thyroid tissues.ConclusionsEctopic thyroid in the porta hepatis is extremely rare. We reviewed literature from 1960 to 2022 and identified six relevant case reports of ectopic thyroid in the porta hepatis. To our knowledge, this report constitutes the first report of BA complicated by ectopic thyroid in the porta hepatis.
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