AACE Clinical Case Reports最新文献

{"title":"Pulmonary Metastatic Follicular Thyroid Carcinoma Without Intrathyroidal Primary Thyroid Cancer","authors":"Sima Saberi MD ,&nbsp;Nicholas Burris MD ,&nbsp;Ka Kit Wong MBBS ,&nbsp;Noah A. Brown MD ,&nbsp;Thomas Giordano MD, PhD ,&nbsp;Nazanene H. Esfandiari MD","doi":"10.1016/j.aace.2024.03.006","DOIUrl":"10.1016/j.aace.2024.03.006","url":null,"abstract":"<div><h3>Background/Objective</h3><p>Follicular thyroid cancer without an intrathyroidal primary cancer is rare. We present a patient with multifocal pulmonary metastatic follicular thyroid cancer without apparent cancer within her thyroid.</p></div><div><h3>Case Report</h3><p>A 44-year-old woman was referred to the thyroid cancer clinic via telemedicine for evaluation of intrapulmonary thyroid tissue. Her past medical history included Roux-en-Y gastric bypass and hysterectomy with bilateral oophorectomy. Six months prior, abdominal computed tomography (CT) showed incidental bilateral lung nodules. Chest CT demonstrated 4 solid left and 1 solid right lung nodules. Lung nodule core biopsy revealed benign thyroid tissue. Thyroid ultrasound showed bilateral subcentimeter anechoic nodules. Chest CT 6 months after initial CT demonstrated stable lung nodules. The levels of thyroid-stimulating hormone, serum thyroglobulin, and thyroglobulin antibody were 1.63 mIU/L (reference range, 0.3-5.5 mIU/L), 40.9 ng/mL (reference range, 0-35 ng/mL), and &lt;1 IU/mL (reference range, &lt;4), respectively. Positron emission tomography/CT showed fluorodeoxyglucose-avid lung lesions measuring 1.5, 1.1, and 2.2 cm and other subcentimeter pulmonary nodules. Repeat lung core biopsy showed thyroid tissue with microfollicular architecture, favoring metastatic follicular carcinoma with neuroblastoma-RAS gene (<em>NRAS</em>) mutation. Total thyroidectomy performed showed multinodular hyperplasia without thyroid cancer. Her postoperative radioiodine scan demonstrated bilateral iodine-avid pulmonary nodules, a serum thyroglobulin level of 179.8 ng/mL, a thyroid-stimulating hormone level of 151.3 mIU/L, and undetectable serum thyroglobulin antibody. She received 261 mCi of radioactive iodine. Fourteen months later, chest CT revealed decreased lung nodules and a serum thyroglobulin level of 0.7 ng/mL.</p></div><div><h3>Discussion</h3><p>Approximately 2 cases of multifocal pulmonary follicular thyroid cancer without a primary source and no other site of metastasis have been reported.</p></div><div><h3>Conclusion</h3><p>Pulmonary follicular thyroid cancer without a primary source and no other site of metastasis is extremely rare.</p></div>","PeriodicalId":7051,"journal":{"name":"AACE Clinical Case Reports","volume":"10 4","pages":"Pages 123-126"},"PeriodicalIF":0.0,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2376060524000300/pdfft?md5=a5282e46718123241d6426b526d7dda5&pid=1-s2.0-S2376060524000300-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140405885","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Rituximab Therapy for Insulin Allergy in Type-1 Diabetes Mellitus","authors":"Cory E. DeClue MS, MD ,&nbsp;Elizabeth J. Phillips MD ,&nbsp;Carlos Prieto-Granada MD ,&nbsp;Shichun Bao MD, PhD","doi":"10.1016/j.aace.2024.04.002","DOIUrl":"10.1016/j.aace.2024.04.002","url":null,"abstract":"<div><h3>Background/Objective</h3><p>Allergic reactions to insulin have decreased significantly since the introduction of human insulin preparation, but up to 2.4% of insulin-treated patients can still be affected. Rituximab is a monoclonal antibody against the surface antigen CD20 on B lymphocytes, and it is largely used to treat lymphoproliferative and rheumatological conditions. In a very few published case reports, rituximab has been used as an investigational drug to treat severe insulin allergy refractory to conventional therapy. Here, we present an unusual case of a 40-year-old woman with T1DM and severe insulin allergy that was successfully treated with rituximab.</p></div><div><h3>Case Report</h3><p>The patient was diagnosed with T1DM at age 37. Three years later, skin reactions developed at insulin administration sites. These consisted of pruritic and painful erythema and wheals that appeared within 1 to 4 h of insulin administration, followed by induration, subcutaneous nodules, and surrounding lipodystrophy that lasted several days with spontaneous resolution in 1 to 2 weeks. Extensive immunologic evaluation suggested the reaction was related to insulin allergy. Skin biopsy revealed sublobular panniculitis. After failed conventional treatment with antihistamines, glucocorticoid, and various insulins, rituximab infusion as an investigational approach was initiated. This was very successful, leading to prolonged remission of her insulin allergy.</p></div><div><h3>Discussion</h3><p>First-line management of insulin allergy should focus on second-generation antihistamines and switching insulin preparation. In refractory cases, systemic immunotherapy with rituximab can be a viable option.</p></div><div><h3>Conclusion</h3><p>Practitioners should be aware that in patients with insulin allergy who fail conventional treatment, immunotherapy with rituximab can be a viable option.</p></div>","PeriodicalId":7051,"journal":{"name":"AACE Clinical Case Reports","volume":"10 4","pages":"Pages 140-143"},"PeriodicalIF":0.0,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2376060524000348/pdfft?md5=5a3565ce3e4e97373433dced8d8aaacf&pid=1-s2.0-S2376060524000348-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140794695","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Hyperglycemic Chorea","authors":"Tammy Tavdy DO ,&nbsp;Vafa Tabatabaie MD","doi":"10.1016/j.aace.2024.02.005","DOIUrl":"10.1016/j.aace.2024.02.005","url":null,"abstract":"","PeriodicalId":7051,"journal":{"name":"AACE Clinical Case Reports","volume":"10 4","pages":"Pages 164-165"},"PeriodicalIF":0.0,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2376060524000130/pdfft?md5=bf22bfbb046aca4b974fb543b97ac390&pid=1-s2.0-S2376060524000130-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140465206","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Hypoglycemia After Ingestion of “Street Valium” Containing Glyburide, Alcohol, and Cocaine","authors":"Amanda L. McKenna MD ,&nbsp;Jessica R. Wilson MD ,&nbsp;Adrian G. Dumitrascu MD ,&nbsp;Shon E. Meek MD, PhD ,&nbsp;Ana-Maria Chindris MD","doi":"10.1016/j.aace.2024.04.005","DOIUrl":"10.1016/j.aace.2024.04.005","url":null,"abstract":"<div><h3>Background/Objective</h3><p>Because of their similar appearance and inexpensive cost, sulfonylureas can cause hypoglycemia when substituted for benzodiazepines by the illicit drug market. We present a patient who developed hypoglycemia after ingestion of what she thought to be Valium; work-up revealed sulfonylurea exposure.</p></div><div><h3>Case Report</h3><p>A 33-year-old patient was brought to the hospital after being found unresponsive by paramedics with a reported venous blood glucose level of 18 mg/dL (reference range, 70-140 mg/dL). This prompted treatment with 12.5 g of dextrose administered intravenously. At the hospital, the venous blood glucose level was 15 mg/dL resulting in intravenous dextrose infusion initiation. Once stable, the patient endorsed a medical history of substance use disorder and anxiety. She reported ingesting 2 blue pills given to her by a friend as Valium for her anxiety. Laboratory values showed an elevated insulin level of 47.4 mIU/mL (2.6-24.9), an elevated C-peptide level of 5.4 ng/mL (1.1-4.4), and a glucose level of 44 mg/dL (&gt;70 mg/dL). The patient underwent a 72-hour fasting test. Blood hypoglycemia agent screening showed positive results for glyburide (&gt;5 ng/mL). The patient was discharged home in stable condition.</p></div><div><h3>Discussion</h3><p>There are approximately 2 to 5 case reports of hypoglycemia among persons taking illicit drugs containing sulfonylureas. Laboratory values consistent with the use of a hypoglycemic agent include elevated insulin and C-peptide levels, a low glucose level, and positive results for hypoglycemia agent screening.</p></div><div><h3>Conclusion</h3><p>Sulfonylurea-induced hypoglycemia may lead to clinical sedation, mimicking the effects of benzodiazepines. Sulfonylurea substitution or drug contamination should be suspected when severe hypoglycemia is diagnosed in unresponsive patients suspected of taking illicit drugs.</p></div>","PeriodicalId":7051,"journal":{"name":"AACE Clinical Case Reports","volume":"10 4","pages":"Pages 149-151"},"PeriodicalIF":0.0,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2376060524000403/pdfft?md5=20cf5d7ce3258f26993df7e79640e5b6&pid=1-s2.0-S2376060524000403-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140764482","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Concurrent Papillary Craniopharyngioma and Growth Hormone-Secreting Pituitary Adenoma: A Rare and Aggressive Collision Tumor","authors":"Alyssa J. Mancini MD ,&nbsp;Ribu Mathew MD ,&nbsp;Jaymie Oentoro MD ,&nbsp;Alma M. Devine MD ,&nbsp;Carolyn Maxwell MD, ECNU ,&nbsp;Igor Kravets MD, FACP, FACE","doi":"10.1016/j.aace.2024.04.003","DOIUrl":"10.1016/j.aace.2024.04.003","url":null,"abstract":"<div><h3>Background/Objective</h3><p>Collision tumors composed of craniopharyngiomas and pituitary adenomas are extremely rare. We report a collision tumor formed by a papillary craniopharyngioma and a growth hormone-secreting pituitary adenoma, which is the first report of such a tumor, to the best of our knowledge.</p></div><div><h3>Case Report</h3><p>A 49-year-old man presented with 2 months of headaches and blurry vision. An exam demonstrated frontal bossing, enlarged jaw and hands, macroglossia, and bitemporal hemianopsia, and magnetic resonance imaging (MRI) showed a 4.1 cm sellar/suprasellar mass with mass effect on the optic chiasm. The tumor was resected twice via a craniotomy, the second time due to interval growth, with the pathology after both surgeries showing a papillary craniopharyngioma. IGF-1 was 517 ng/mL (68-225) and growth hormone suppression test was positive. Repeat MRI showed residual tumor with ongoing mass effect on the optic chiasm and radiation therapy was initiated. MRI showed interval growth of the mass and IGF-1 rose to 700 ng/mL after which the patient underwent a transsphenoidal resection of the tumor; the pathology showed a residual papillary craniopharyngioma and a PIT1 lineage adenoma with most cells expressing growth hormone. After developing numerous complications, the patient passed away.</p></div><div><h3>Discussion</h3><p>Collision tumors of the sella are often associated with an aggressive clinical course, as they often go undiagnosed preoperatively, thus reducing the likelihood of total resection and leading to higher rates of craniopharyngioma recurrence.</p></div><div><h3>Conclusion</h3><p>A pituitary mass with an aggressive clinical course should prompt a high index of suspicion for a sellar collision tumor, though prognosis remains poor.</p></div>","PeriodicalId":7051,"journal":{"name":"AACE Clinical Case Reports","volume":"10 4","pages":"Pages 144-148"},"PeriodicalIF":0.0,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S237606052400035X/pdfft?md5=b176a0672547657c420e958f03827c73&pid=1-s2.0-S237606052400035X-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140785460","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Editorial for July/August Issue of AACE Clinical Case Reports","authors":"Sina Jasim MD, MPH (Editor in Chief)","doi":"10.1016/j.aace.2024.06.003","DOIUrl":"https://doi.org/10.1016/j.aace.2024.06.003","url":null,"abstract":"","PeriodicalId":7051,"journal":{"name":"AACE Clinical Case Reports","volume":"10 4","pages":"Pages 121-122"},"PeriodicalIF":0.0,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2376060524000580/pdfft?md5=e29b15a52d9d1608f444780bbfd54c20&pid=1-s2.0-S2376060524000580-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141607711","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Acceleration of Preexisting Aortic Stenosis After Teriparatide Initiation","authors":"Jayachidambaram Ambalavanan MD ,&nbsp;Carlos Hubbard MD, PhD ,&nbsp;Leila Zeinab Khan MD","doi":"10.1016/j.aace.2024.04.006","DOIUrl":"https://doi.org/10.1016/j.aace.2024.04.006","url":null,"abstract":"<div><h3>Background/Objective</h3><p>Teriparatide, an osteoanabolic agent similar to parathyroid hormone in properties, is used to manage severe osteoporosis. Aortic valve stenosis is a common valve condition observed in the elderly. Its natural history includes gradual progression toward severity. We present a case of a patient who had rapidly progressive aortic stenosis after teriparatide initiation.</p></div><div><h3>Case Report</h3><p>An 84-year-old woman who was diagnosed with osteoporosis was treated with oral bisphosphonates. When she had spinal compression fractures, she was found to have primary hyperparathyroidism. She underwent parathyroidectomy and was treated with denosumab infusions every 6 months. However, after she experienced bilateral atypical femoral fractures, she was switched to teriparatide daily injections. Her laboratory test results showed a calcium level of 10 mg/dL (reference range, 8.5-10.2 mg/dL), 25-hydroxyvitamin D level of 38.2 ng/mL (reference range, 31.0-80.0 ng/mL), and phosphorus level of 3.3 mg/dL (reference, range, 2.7-4.8 mg/dL). On reviewing echocardiograms before and after teriparatide initiation, we found a rapid progression of her aortic stenosis from moderate to severe based on the mean gradients (23 to 40 mm Hg) and peak velocities (3.09 to 4 m/s), over a span of 10 months. She eventually required valve replacement.</p></div><div><h3>Discussion</h3><p>Natural progression of mild to severe aortic stenosis typically occurs at the rate of 3 to 7 mm Hg per year over several years. Chronic exposure of human valvular endothelial cells to parathyroid hormone can trigger endothelial dysfunction and valvular calcification.</p></div><div><h3>Conclusion</h3><p>In patients with preexisting aortic stenosis, coordination of care with cardiology and echocardiographic monitoring while on therapy may be considered.</p></div>","PeriodicalId":7051,"journal":{"name":"AACE Clinical Case Reports","volume":"10 4","pages":"Pages 152-155"},"PeriodicalIF":0.0,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2376060524000415/pdfft?md5=40659b8cc7d61ac36d9be34beecca49d&pid=1-s2.0-S2376060524000415-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141607735","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Hypertension in a Patient With Polycystic Kidney Disease Complicated by Concomitant Pheochromocytoma","authors":"Adelina Ameti MD ,&nbsp;Peter A. Kopp MD ,&nbsp;Nelly Pitteloud MD ,&nbsp;Grégoire Wuerzner MD ,&nbsp;Eric Grouzmann PharmD, PhD ,&nbsp;Maurice Matter MD ,&nbsp;Faiza Lamine MD ,&nbsp;Olivier Phan MD","doi":"10.1016/j.aace.2024.04.001","DOIUrl":"10.1016/j.aace.2024.04.001","url":null,"abstract":"<div><h3>Background</h3><p>Due to the high prevalence of hypertension in patients with autosomal dominant polycystic kidney disease (ADPKD) and advanced chronic kidney disease, diagnosing secondary hypertension poses challenges. We present a rare case of pheochromocytoma in an ADPKD patient to highlight the diagnostic difficulties in identifying secondary hypertension due to pheochromocytoma/paraganglioma (PPGL) in end-stage renal disease (ESRD) patients.</p></div><div><h3>Case Report</h3><p>A 48-year-old female with ADPKD and ESRD experienced recurrent hypertensive crises (up to 220/135 mmHg) accompanied by palpitations and tremors that recurred over the past 2 years. Introduction of a betablocker to the antihypertensive therapy aggravated her symptoms. The initial documentation of elevated urinary metanephrines was interpreted as false positive finding due to renal failure. Subsequent measurements of free plasma metanephrines revealed significant elevations raising suspicion of PPGL. Magnetic resonance imaging identified a 29 mm right adrenal mass. The patient underwent right adrenalectomy resulting in resolution of the hypertensive crises.</p></div><div><h3>Discussion</h3><p>The diagnosis of PPGLs can present significant challenges and is further complicated in ESRD due to nonspecific clinical symptoms and diagnostic pitfalls. Less than 20 PPGL cases have been reported in patients with ESRD. The intolerance of beta-blocker therapy, as well as the use of a scoring system for the likelihood of PPGL should have raised suspicion.</p></div><div><h3>Conclusion</h3><p>PPGL should be considered in all patients with uncontrolled hypertension and beta-blockers intolerance, even in the presence of other etiologic mechanisms such as ESRD. Measuring free plasma metanephrines provides the most reliable biochemical screening in the context of impaired renal function.</p></div>","PeriodicalId":7051,"journal":{"name":"AACE Clinical Case Reports","volume":"10 4","pages":"Pages 136-139"},"PeriodicalIF":0.0,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2376060524000336/pdfft?md5=8921824f9f1cce5eb3c698b936d6d521&pid=1-s2.0-S2376060524000336-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140791144","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Hypolipidemia due to Familial Hypobetalipoproteinemia in Adolescents","authors":"Sabitha Sasidharan Pillai MD ,&nbsp;Meghan E. Fredette MD ,&nbsp;Jose Bernardo Quintos MD ,&nbsp;Lisa Swartz Topor MD, MMSc","doi":"10.1016/j.aace.2024.03.008","DOIUrl":"10.1016/j.aace.2024.03.008","url":null,"abstract":"<div><h3>Background/Objective</h3><p>Individuals with heterozygous familial hypobetalipoproteinemia (h-FHBL) due to loss-of-function mutation in the apolipoprotein B gene are typically asymptomatic with mild liver dysfunction, which is often detected incidentally. About 5% to 10% of those with h-FHBL develop steatohepatitis which occasionally progress to cirrhosis especially in the presence of alcohol use, excess calorie consumption, or liver injury. We report 3 patients with hypobetalipoproteinemia, 2 with confirmed h-FHBL, and 1 with suspected h-FHBL.</p></div><div><h3>Case Report</h3><p>Three asymptomatic adolescents presented with low lipid levels detected on screening laboratory studies. Patient 1, a 13 ⁶/₁₂-year-old male and patient 2, a 15 ⁹/₁₂-year-old female, were siblings. Patient 3 was a 12 ⁶/₁₂-year-old female. All had total cholesterol ranging from 61 to 87 mg/dL, low-density lipoprotein cholesterol 10 to 28 mg/dL, and triglycerides 19 to 36 mg/dL. Aspartate transaminase and alanine transaminase levels were normal in patients 1 and 3 and were elevated in patient 2. Liver ultrasounds of patients 2 and 3 showed hepatic steatosis. Molecular testing identified pathogenic variant of apolipoprotein B gene in patients 1 and 2, c.133C&gt;T(p.Arg.45Ter) confirming the diagnosis of h-FHBL.</p></div><div><h3>Discussion</h3><p>More studies are needed in children with h-FHBL and other forms of hypobetalipoproteinemia to improve awareness of these disorders and to develop guidelines for monitoring and risk reduction in affected patients.</p></div><div><h3>Conclusion</h3><p>Health care providers should be aware that persistent hypolipidemia may indicate h-FHBL, which can be a risk factor for liver dysfunction. Youth with h-FHBL should be counseled about lifestyle modifications and screened for the development of metabolic dysfunction–associated steatotic liver disease.</p></div>","PeriodicalId":7051,"journal":{"name":"AACE Clinical Case Reports","volume":"10 4","pages":"Pages 132-135"},"PeriodicalIF":0.0,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2376060524000324/pdfft?md5=72c9642df0c6c7d59538acbd164a72c9&pid=1-s2.0-S2376060524000324-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140792268","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Papillary Thyroid Carcinoma, Cushing Disease, and Adrenocortical Carcinoma in a Patient with Li-Fraumeni Syndrome","authors":"Jared G. Friedman MD,&nbsp;Ioannis G. Papagiannis MD, FACE","doi":"10.1016/j.aace.2024.03.007","DOIUrl":"10.1016/j.aace.2024.03.007","url":null,"abstract":"<div><h3>Background/Objective</h3><p>Li-Fraumeni syndrome (LFS) is an inherited sequence variant in TP53 characterized by the early onset of various core malignancies including adrenocortical carcinoma (ACC), sarcomas, breast cancer, leukemias, and central nervous system tumors. We present a case of a patient with LFS who developed endocrine neoplasms not classically seen in LFS in addition to developing ACC.</p></div><div><h3>Case Report</h3><p>A 26-year-old nonbinary individual assigned female at birth with a history of LFS complicated by osteosarcoma of the jaw was incidentally found to have thyroid and sellar masses on surveillance magnetic resonance imaging. Fine-needle aspiration of thyroid mass confirmed papillary thyroid carcinoma, and the patient underwent total thyroidectomy. Pituitary workup was notable for laboratory test results consistent with adrenocorticotropic hormone-dependent hypercortisolism; the patient underwent resection of the pituitary lesion. The patient was subsequently noted on abdominal imaging to have a new left adrenal mass; they underwent left adrenalectomy with pathology consistent with ACC.</p></div><div><h3>Discussion</h3><p>There is limited literature on the relationship between LFS and thyroid and pituitary neoplasms. Genetic testing has suggested that TP53 sequence variants may play a role in tumorigenesis in thyroid and pituitary neoplasms; however, most of the current literature is based on evidence of somatic rather than germline sequence variants.</p></div><div><h3>Conclusion</h3><p>This case highlights a patient with LFS with neoplasia of multiple endocrine organs including ACC, which is a classic finding, as well as papillary thyroid carcinoma and Cushing disease. Further investigation may be necessary to assess if patients with LFS are at a higher risk of various endocrine neoplasms in addition to the core malignancies classically described because this could affect future screening protocols.</p></div>","PeriodicalId":7051,"journal":{"name":"AACE Clinical Case Reports","volume":"10 4","pages":"Pages 127-131"},"PeriodicalIF":0.0,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2376060524000312/pdfft?md5=872a59b421297d284a34e79ef561a790&pid=1-s2.0-S2376060524000312-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140399644","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}