JCEM case reports最新文献

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Radioactive Iodine Treatment for Thyroid Cancer Complicated by Lacrimal Sac Retention of Iodine. 放射性碘治疗甲状腺癌并发泪囊碘潴留。
JCEM case reports Pub Date : 2024-12-13 eCollection Date: 2025-01-01 DOI: 10.1210/jcemcr/luae234
Annu Suresh, Giuseppe Esposito, Bruce Davidson, Pavle Doroslovački, Jacqueline Jonklaas
{"title":"Radioactive Iodine Treatment for Thyroid Cancer Complicated by Lacrimal Sac Retention of Iodine.","authors":"Annu Suresh, Giuseppe Esposito, Bruce Davidson, Pavle Doroslovački, Jacqueline Jonklaas","doi":"10.1210/jcemcr/luae234","DOIUrl":"10.1210/jcemcr/luae234","url":null,"abstract":"<p><p>Patients with intermediate-risk thyroid cancers may undergo treatment with radioactive iodine-131 (I-131). They often undergo a pretreatment diagnostic iodine scan that typically shows areas of physiological uptake in the stomach, bladder, parotid glands as well as thyroid-remnant uptake and sites of metastatic disease. A 48-year-old woman with intermediate-risk papillary thyroid cancer with metastases to lateral compartment lymph nodes was found to have increased retention of iodine in the medial portion of her left orbit on the diagnostic scan. This was suggestive of preexisting nasolacrimal duct stenosis leading to retention of secretions in the lacrimal sac, raising concerns that the I-131 used in treatment would have delayed clearance that could further damage her lacrimal sac and eye. In consultation with ophthalmology, the patient received pretreatment azelastine and prednisolone drops and underwent treatment with radioactive iodine followed by saline lacrimal irrigation. Though she had subsequent eye pain and swelling necessitating repeated irrigation, the patient was able to undergo treatment for her papillary thyroid cancer and retained full function of her eye. This case highlights an approach that could be used for patients with nasolacrimal duct stenosis in whom radioactive iodine treatment is deemed beneficial.</p>","PeriodicalId":73540,"journal":{"name":"JCEM case reports","volume":"3 1","pages":"luae234"},"PeriodicalIF":0.0,"publicationDate":"2024-12-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11644468/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142831076","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}
引用次数: 0
Ephemeral Diabetes After COVID-19 Vaccination. 接种 COVID-19 疫苗后的短暂糖尿病
JCEM case reports Pub Date : 2024-12-13 eCollection Date: 2025-01-01 DOI: 10.1210/jcemcr/luae228
Sarah-Ålivia Mänd, Åke Sjöholm
{"title":"Ephemeral Diabetes After COVID-19 Vaccination.","authors":"Sarah-Ålivia Mänd, Åke Sjöholm","doi":"10.1210/jcemcr/luae228","DOIUrl":"10.1210/jcemcr/luae228","url":null,"abstract":"<p><p>We report a case of new-onset, nonautoimmune, nonketotic, and noninsulinopenic type 2-like diabetes in a previously normoglycemic middle-aged man debuting after vaccination against COVID-19. This was not a mild or short-lived glucose intolerance, but severe and long-standing hyperglycemia with a high glycated hemoglobin level. However, the course of the diabetes was highly atypical and surprising in that it spontaneously disappeared after a few months and did not recur despite the patient being off all antidiabetic drugs for several months and without any changes in body weight or lifestyle. The mechanisms by which severe diabetes unfolded and later remitted in this patient remain elusive. Nonetheless, and notwithstanding whether or not there was a cause-and-effect relation between the vaccinations and his diabetes, the highly atypical course of spontaneously remitting nonautoimmune diabetes lends itself to mechanistic efforts aimed at understanding the biology and pathophysiology of insulin-producing β cells in health and disease. This case report should not be construed as vaccine skepticism or deter anyone, especially with diabetes/obesity, from vaccination against COVID-19. However, it calls for increased vigilance among health care providers for unusual and unexpected metabolic effects of COVID-19 and its vaccines.</p>","PeriodicalId":73540,"journal":{"name":"JCEM case reports","volume":"3 1","pages":"luae228"},"PeriodicalIF":0.0,"publicationDate":"2024-12-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11644471/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142831080","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}
引用次数: 0
Familial Glucocorticoid Deficiency in Twins: A Novel Mutation and Impact on Social Determinants of Health Outcome. 双胞胎家族性糖皮质激素缺乏症:一种新型突变及其对健康结果的社会决定因素的影响。
JCEM case reports Pub Date : 2024-12-13 eCollection Date: 2025-01-01 DOI: 10.1210/jcemcr/luae224
Wei Wei, Gabriel Q Shaibi, Laura Cooper-Hastings, Dorothee Newbern
{"title":"Familial Glucocorticoid Deficiency in Twins: A Novel Mutation and Impact on Social Determinants of Health Outcome.","authors":"Wei Wei, Gabriel Q Shaibi, Laura Cooper-Hastings, Dorothee Newbern","doi":"10.1210/jcemcr/luae224","DOIUrl":"10.1210/jcemcr/luae224","url":null,"abstract":"<p><p>Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive disorder that causes isolated glucocorticoid deficiency. Here, we report on 22-month-old twin females of Native American ancestry who presented within 1 week of each other in adrenal crisis and were ultimately diagnosed with FGD because of a novel pathogenic variant, c1924G>T (p. Gly642*), in the nicotinamide nucleotide transhydrogenase <i>(NNT)</i> gene. This is the first report of FGD in a Native American population. The process of reaching the final diagnosis was complicated by several social determinants including geographic rurality, access to subspecialists, financial constraints, and challenges obtaining approval for genetic testing despite having insurance. Concerted efforts by the family, the local pediatrician, the Indian Health Service, and our tertiary care pediatric health system were required to reach the final diagnosis and develop an appropriate plan of care for the patients.</p>","PeriodicalId":73540,"journal":{"name":"JCEM case reports","volume":"3 1","pages":"luae224"},"PeriodicalIF":0.0,"publicationDate":"2024-12-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11644469/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142831084","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}
引用次数: 0
Pituitary Gigantism in an Adolescent Girl With Postsurgical Residual Disease Treated With Lanreotide.
JCEM case reports Pub Date : 2024-12-12 eCollection Date: 2025-01-01 DOI: 10.1210/jcemcr/luae225
Amissabah M Kanley, Whitney L Bossert, Salaheddin H Elrokhsi
{"title":"Pituitary Gigantism in an Adolescent Girl With Postsurgical Residual Disease Treated With Lanreotide.","authors":"Amissabah M Kanley, Whitney L Bossert, Salaheddin H Elrokhsi","doi":"10.1210/jcemcr/luae225","DOIUrl":"10.1210/jcemcr/luae225","url":null,"abstract":"<p><p>Pituitary gigantism (PG) is a rare endocrine disorder that may present with multiple pituitary hormone abnormalities in pediatric patients. A hallmark presentation is accelerated growth due to growth hormone (GH) excess. Current treatment modalities include surgery, radiation, and medical therapy. We describe a 14-year-old girl who presented with recurrent slipped capital femoral epiphysis with GH excess and multiple other hormonal abnormalities. A sellar mass was identified on magnetic resonance imaging of the brain and was surgically resected. The pathology report was consistent with pituitary gland adenoma with mammosomatotrophs hyperplasia. Post surgery, serial laboratory results showed persistently elevated growth factor and GH levels, and residual tumor was reported on follow-up imaging. Even though we found limited data on the efficacy and safety of a long-acting somatostatin analogue, lanreotide, in the treatment of PG, a total of 4 doses of lanreotide successfully reduced growth factor and GH levels to normal ranges in our patient. Repeat imaging 5 weeks post discontinuation of lanreotide showed reduction of residual tumor volume. This case reveals that a short course of lanreotide may be used as an effective medical treatment in pediatric patients with PG who have residual disease after surgical intervention.</p>","PeriodicalId":73540,"journal":{"name":"JCEM case reports","volume":"3 1","pages":"luae225"},"PeriodicalIF":0.0,"publicationDate":"2024-12-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11635374/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142831026","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}
引用次数: 0
Primary Unilateral Adrenal Anaplastic Large Cell Lymphoma: Remission by Chemotherapy.
JCEM case reports Pub Date : 2024-12-06 eCollection Date: 2024-12-01 DOI: 10.1210/jcemcr/luae229
Daisuke Goto, Yumie Takeshita, Kosuke Nagai, Hisanori Goto, Yujiro Nakano, Toshinari Takamura
{"title":"Primary Unilateral Adrenal Anaplastic Large Cell Lymphoma: Remission by Chemotherapy.","authors":"Daisuke Goto, Yumie Takeshita, Kosuke Nagai, Hisanori Goto, Yujiro Nakano, Toshinari Takamura","doi":"10.1210/jcemcr/luae229","DOIUrl":"10.1210/jcemcr/luae229","url":null,"abstract":"<p><p>Primary malignant lymphomas originating in the adrenal gland, particularly of T-cell origin, are extremely rare. Here we present the primary unilateral adrenal anaplastic large cell lymphoma case. A 64-year-old Japanese male initially presented with fatigue and appetite loss. Computed tomography imaging revealed a unilateral adrenal mass with multiorgan invasion, posing challenges in differentiation from adrenal carcinoma. A biopsy from the metastatic site in the right lateral vastus muscle was obtained, and immunohistochemistry revealed that tumor cells were positive for CD30 and CD56 and negative for CD3, CD15, CD20, CD43, perforin, granzyme B, epithelial membrane antigen, and anaplastic lymphoma kinase. Ultimately, the patient was diagnosed with primary unilateral adrenal anaplastic large cell lymphoma. Although he achieved complete response to chemotherapy, he died 4 months after complete response due to cholecystitis and lymphoma recurrence.</p>","PeriodicalId":73540,"journal":{"name":"JCEM case reports","volume":"2 12","pages":"luae229"},"PeriodicalIF":0.0,"publicationDate":"2024-12-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11630779/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142808802","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}
引用次数: 0
Reduction of Ovarian Cysts After Endoscopic Surgery for Follicle-Stimulating Hormone-Producing Pituitary Adenoma.
JCEM case reports Pub Date : 2024-12-06 eCollection Date: 2024-12-01 DOI: 10.1210/jcemcr/luae231
Reo Ishii, Nozomi Harai, Tadatsugu Hosokawa, Ippei Tahara, Masakazu Ogiwara, Kyoichiro Tsuchiya
{"title":"Reduction of Ovarian Cysts After Endoscopic Surgery for Follicle-Stimulating Hormone-Producing Pituitary Adenoma.","authors":"Reo Ishii, Nozomi Harai, Tadatsugu Hosokawa, Ippei Tahara, Masakazu Ogiwara, Kyoichiro Tsuchiya","doi":"10.1210/jcemcr/luae231","DOIUrl":"10.1210/jcemcr/luae231","url":null,"abstract":"<p><p>A 49-year-old woman presented with irregular menstrual bleeding, elevated estradiol (E2) (665 pg/mL [2441.21 pmol/L]) (reference range [RR]: menstrual period [MP] 20-50 pg/mL; 73.42-183.55 pmol/L), unsuppressed follicle-stimulating hormone (FSH) (19.3 mIU/mL [19.3 IU/L]) (RR: MP 3.5-10.0 mIU/mL; 3.5-10.0 IU/L), and cystic ovarian enlargement (right ovary, 109 mL; left ovary, 146 mL). A 7-mm pituitary microadenoma was also observed, and 6 months after referral, endoscopic transsphenoidal surgery was performed, resulting in a diagnosis of FSH-producing pituitary adenoma. Nine months postoperatively, the ovarian cysts had markedly shrunk. Although FSH-producing pituitary adenomas are rare, approximately 64% of nonfunctioning pituitary adenomas are positive for gonadotropin immunostaining. FSH-producing pituitary adenomas are often endocrinologically silent, with symptoms typically triggered by pituitary tumor enlargement. Early diagnosis can be facilitated by measuring FSH and E2 levels in cases of irregular vaginal bleeding, abnormal menstruation, ovarian enlargement, ovarian hyperstimulation syndrome, or infertility. If E2 is elevated but FSH is not suppressed, pituitary magnetic resonance imaging should be performed to identify FSH-producing pituitary adenomas. In cases of FSH-producing pituitary adenomas, including microadenomas, symptoms may improve after tumor resection, making surgery the preferred treatment option.</p>","PeriodicalId":73540,"journal":{"name":"JCEM case reports","volume":"2 12","pages":"luae231"},"PeriodicalIF":0.0,"publicationDate":"2024-12-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11630798/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142808807","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}
引用次数: 0
Statin-Induced Necrotizing Autoimmune Myopathy: Diagnosis and Treatment Approach.
JCEM case reports Pub Date : 2024-12-06 eCollection Date: 2024-12-01 DOI: 10.1210/jcemcr/luae227
Varshini Srinivasan, Samyuktha Prabu, Jad G Sfeir, Kalpana Muthusamy
{"title":"Statin-Induced Necrotizing Autoimmune Myopathy: Diagnosis and Treatment Approach.","authors":"Varshini Srinivasan, Samyuktha Prabu, Jad G Sfeir, Kalpana Muthusamy","doi":"10.1210/jcemcr/luae227","DOIUrl":"10.1210/jcemcr/luae227","url":null,"abstract":"<p><p>The widespread use of statins for cardiovascular diseases has unveiled a new subset of inflammatory myopathy, immune-mediated necrotizing myopathy (IMNM). We describe below an unusual case of anti-3-hydroxy-3-methylglutaryl-coenzyme A reductase (anti-HMGCR) myopathy. A 64-year-old male individual with type 2 diabetes, hyperlipidemia, and coronary artery disease presented with progressive proximal muscle weakness and pain for 3 months. He took atorvastatin 40 mg for 4 years, which was discontinued due to elevated liver enzymes and resumed treatment with rosuvastatin 5 mg later due to worsening hyperlipidemia. Physical examination showed significant weakness of the hip, shoulder girdle, and biceps/triceps. Creatinine kinase (CK) was found to be 232.48 µkat/L (13 921 IU/L) (normal: 0.833-5.133 µkat/L; 50-308 IU/L). Electromyography and left vastus lateralis muscle biopsy showed findings of myonecrosis. Anti-HMGCR assay was strongly positive with antibodies > 200 chemiluminescent units (CU) (normal: 0-20 CU). He was started on prednisone followed by human-immunoglobulin (IVIG) which led to a decline in CK. Statin-induced necrotizing autoimmune myopathy (SINAM) is an exceptionally rare side effect of statins. Although statins come with a good side-effect profile, one should be aware of marked, persistent elevations in muscle enzyme levels. Prompt confirmation with antibody levels, drug discontinuation, and early initiation of immunosuppression can lead to good outcomes.</p>","PeriodicalId":73540,"journal":{"name":"JCEM case reports","volume":"2 12","pages":"luae227"},"PeriodicalIF":0.0,"publicationDate":"2024-12-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11630794/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142808822","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}
引用次数: 0
Hyperinsulinemic Hypoglycemia in a Patient With a Mutation in the Insulin Receptor.
JCEM case reports Pub Date : 2024-12-05 eCollection Date: 2024-12-01 DOI: 10.1210/jcemcr/luae221
Marcus Imamovic, Mattias Vågberg, Kristina Cederquist, Per Dahlqvist
{"title":"Hyperinsulinemic Hypoglycemia in a Patient With a Mutation in the Insulin Receptor.","authors":"Marcus Imamovic, Mattias Vågberg, Kristina Cederquist, Per Dahlqvist","doi":"10.1210/jcemcr/luae221","DOIUrl":"10.1210/jcemcr/luae221","url":null,"abstract":"<p><p>Hyperinsulinemic hypoglycemias resulting from variants in the insulin receptor (<i>INSR</i>) gene are rare but clinically important disorders. We present a male patient in his 30s, experiencing recurrent postprandial hypoglycemic events. Endocrine evaluation revealed an elevated insulin-to-C-peptide ratio. A hypoglycemia gene panel, using next-generation sequencing, identified a heterozygous nonsense variant in the <i>INSR</i> gene (NM_000208.4) c.3079C > T, p.(Arg1027*). Initial treatment with diazoxide reduced hypoglycemic symptoms and led to weight loss and decreased hemoglobin A1c due to reduced compensatory carbohydrate intake. However, limiting side effects on diazoxide prompted a treatment switch to lanreotide with maintained absence of hypoglycemic events. This case highlights the importance of considering variants in the <i>INSR</i> gene as a differential diagnosis in hyperinsulinemic hypoglycemia cases, even in adults.</p>","PeriodicalId":73540,"journal":{"name":"JCEM case reports","volume":"2 12","pages":"luae221"},"PeriodicalIF":0.0,"publicationDate":"2024-12-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11630748/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142808792","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}
引用次数: 0
Successful Localization of Recurrent MEN-1-Associated Hyperparathyroidism With 18F-Fluorocholine PET/CT.
JCEM case reports Pub Date : 2024-12-04 eCollection Date: 2024-12-01 DOI: 10.1210/jcemcr/luae222
Elizabeth Wootton, Clement Wong, Amanda Love, David A Pattison
{"title":"Successful Localization of Recurrent MEN-1-Associated Hyperparathyroidism With 18F-Fluorocholine PET/CT.","authors":"Elizabeth Wootton, Clement Wong, Amanda Love, David A Pattison","doi":"10.1210/jcemcr/luae222","DOIUrl":"10.1210/jcemcr/luae222","url":null,"abstract":"","PeriodicalId":73540,"journal":{"name":"JCEM case reports","volume":"2 12","pages":"luae222"},"PeriodicalIF":0.0,"publicationDate":"2024-12-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11630037/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142808825","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}
引用次数: 0
Presentation and Management of Highly Differentiated Follicular Carcinoma of Ovarian Origin With DICER1 Gene Variants.
JCEM case reports Pub Date : 2024-12-04 eCollection Date: 2024-12-01 DOI: 10.1210/jcemcr/luae223
Susan Seav, Mazen Atiq, Ying-Chun Lo, Jagruti Shah, Oliver Dorigo, Chrysoula Dosiou
{"title":"Presentation and Management of Highly Differentiated Follicular Carcinoma of Ovarian Origin With <i>DICER1</i> Gene Variants.","authors":"Susan Seav, Mazen Atiq, Ying-Chun Lo, Jagruti Shah, Oliver Dorigo, Chrysoula Dosiou","doi":"10.1210/jcemcr/luae223","DOIUrl":"10.1210/jcemcr/luae223","url":null,"abstract":"<p><p>Struma ovarii (SO) is a rare subtype of ovarian teratoma composed of more than 50% thyroid tissue. Extraovarian spread of SO, called peritoneal strumosis, was previously considered benign given the lack of histological malignant features. However, the 2020 World Health Organization Classification of Female Genital Tumors reclassified peritoneal strumosis as highly differentiated follicular carcinoma of ovarian origin (HDFCO), highlighting its low-grade malignant potential. We present a 38-year-old woman with SO treated initially with right salpingo-oophorectomy, with recurrence 2 years later with multifocal metastatic lesions in the abdomen and pelvis that was successfully treated with surgical resection, total thyroidectomy, and 157 mCi of I-131. Tumor molecular testing revealed a pathogenic <i>DICER1</i> variant (c.5428G>T, exon 25). A second variant (c.319delins13, exon 4) was of uncertain significance. Germline testing confirmed the second <i>DICER1</i> variant and also identified an increased risk variant in the <i>APC</i> gene (c.3920T>A). This is a rare case of extensive HFDCO with <i>DICER1</i> variants, which has been associated with thyroid cancer. Given the germline <i>DICER1</i> variant, this may also represent the first reported instance of DICER1 syndrome manifesting as HDFCO. Further research into the prognostic factors and optimal treatment of HFDCO is needed.</p>","PeriodicalId":73540,"journal":{"name":"JCEM case reports","volume":"2 12","pages":"luae223"},"PeriodicalIF":0.0,"publicationDate":"2024-12-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11630053/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142808726","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}
引用次数: 0
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