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World Journal of Surgical Oncology May 2024In clinical practice, genetic testing has become standard for many cancerous diseases. While a diagnosis of a single hereditary syndrome is not uncommon, the coexistence...
BACKGROUND
In clinical practice, genetic testing has become standard for many cancerous diseases. While a diagnosis of a single hereditary syndrome is not uncommon, the coexistence of two genetic diseases, even with partially common symptoms, remains unusual. Therefore, targeted next-generation sequencing (NGS), along with genetic consultation and imaging studies, is essential for every patient with confirmed paraganglioma. In this report, we present two sisters diagnosed with multiple endocrine neoplasia type 2 (MEN2A) and familial paraganglioma syndrome type 1 (FPGL1).
CASE PRESENTATION
After presenting to the clinic with neck tumors persisting for several months, both patients underwent tumor removal procedures following imaging and laboratory studies. Pathological reports confirmed the diagnosis of paragangliomas. Subsequently, genetic testing, including NGS, revealed a mutation in the rearranged during transfection (RET) gene: the heterozygous change (c.2410G > A), (p.Val804Met), and a variant of the succinate dehydrogenase complex subunit D (SDHD) gene: (c.64 C > T), (p.Arg22Ter). Subsequently, thyroidectomy procedures were scheduled in both cases.
CONCLUSION
To the best of our knowledge, this is the first report presenting these two mutations in two related patients, resulting in distinctive genetic syndromes with similar manifestations. This underscores that although infrequent, multiple hereditary disorders may co-occur in the same individual.
Topics: Humans; Female; Multiple Endocrine Neoplasia Type 2a; Siblings; Succinate Dehydrogenase; Adult; Proto-Oncogene Proteins c-ret; Prognosis; Thyroidectomy; Mutation; Genetic Testing; Pedigree; Paraganglioma; High-Throughput Nucleotide Sequencing
PubMed: 38802890
DOI: 10.1186/s12957-024-03418-1 -
AACE Clinical Case Reports 2024Although common in adults, primary hyperparathyroidism (PHPT) is a rare condition in children with the most common etiology being solitary parathyroid adenoma (PTA). The...
BACKGROUND/OBJECTIVE
Although common in adults, primary hyperparathyroidism (PHPT) is a rare condition in children with the most common etiology being solitary parathyroid adenoma (PTA). The typical presentation is symptomatic hypercalcemia. Management of PHTP secondary to PTA requires excision of the adenoma.
CASE REPORT
A 13-year-old adolescent boy presented because of orbital cellulitis and was noted to have hypercalcemia. Despite this, the patient was curiously asymptomatic. Further investigations yielded an elevated parathyroid hormone (PTH) level and a normal urine calcium-to-creatinine ratio making the most likely cause of hypercalcemia PHTP secondary to PTA. Imaging demonstrated PTA. The patient underwent parathyroidectomy with the pathology demonstrating PTA. Postoperatively, the PTH levels were undetectable; hence, the patient was treated with calcitriol and calcium supplementation for 1 month and 4 months, respectively. Genetic work-up for multiple endocrine neoplasia 1 and rearranged during transfection mutations was negative.
DISCUSSION
Solitary PTA is the most common cause of PHPT. Adenomas are mostly sporadic or may be a manifestation of an inheritable syndrome, such as multiple endocrine neoplasia. Although symptomatic disease is more common in children, our patient denied any hypercalcemia symptoms. The distinguishing biochemical feature of PHPT because of PTA is high or inappropriately normal PTH level in the context of high-normal or elevated serum calcium levels. Urinary calcium excretion is usually normal or high. PTAs are localized by ultrasound and Tc-99m-Sestamibi scintigraphy. Management includes parathyroidectomy and monitoring for postoperative hypocalcemia.
CONCLUSION
In a child or adolescent presenting with hypercalcemia and elevated PTH levels, it is important to consider PHPT secondary to PTA, because an early diagnosis will aid in preventing complications from hypercalcemia.
PubMed: 38799050
DOI: 10.1016/j.aace.2024.02.008 -
The Kaohsiung Journal of Medical... May 2024Pheochromocytoma is a tumor that usually originating from adrenal medullary chromaffin cells and producing one or more catecholamines, can manifest as hereditary or...
Pheochromocytoma is a tumor that usually originating from adrenal medullary chromaffin cells and producing one or more catecholamines, can manifest as hereditary or sporadic. While the majority pheochromocytomas are sporadic, hereditary forms are often associated with genetic syndromes such as von Hippel-Lindau, multiple endocrine neoplasia type 2, and neurofibromatosis type 1. This study aims to analyze data from our series of surgically excited pheochromocytoma patients and compare the characteristics between hereditary and sporadic cases. We retrospectively evaluated 33 diagnosed pheochromocytoma patients, documenting clinical features, surgical complications, and tumor characteristics in both hereditary and sporadic cases. Among the patients, 21% (7 individuals) had hereditary pheochromocytoma, while 79% (26 individuals) had sporadic cases. During diagnosis, hereditary pheochromocytoma patients exhibited a significantly lower mean age compared to the sporadic group (26.4 ± 9.9 years vs. 50.4 ± 14.0 years; p < 0.001). The maximum tumor size was also lower in hereditary cases compared to sporadic cases (p = 0.004). Adrenal tumor localization analysis showed that 63.6% were right-sided, 24.2% were left-sided, and 12.1% were bilateral. Laboratory analysis revealed significantly higher urinary norepinephrine levels in hereditary pheochromocytoma patients (p = 0.021). Our findings suggest that hereditary pheochromocytoma cases are characterized by a younger age at diagnosis, smaller tumor size, and a higher prevalence of multiple bilateral adrenal adenomas. We recommend genetic testing for all pheochromocytoma patients, particularly those with early-onset disease and bilateral adrenal tumors.
PubMed: 38747189
DOI: 10.1002/kjm2.12836 -
ACG Case Reports Journal May 2024Insulinomas are rare neuroendocrine tumors characterized by episodic hypoglycemia. Typically, insulinomas are benign, solitary, intrapancreatic, and measure less than 2...
Insulinomas are rare neuroendocrine tumors characterized by episodic hypoglycemia. Typically, insulinomas are benign, solitary, intrapancreatic, and measure less than 2 cm in diameter. When insulinomas are multicenter or recurrent, they are often associated with genetic conditions such as multiple endocrine neoplasia type 1, neurofibromatosis type 1, or von Hippel-Lindau disease. Most insulinomas can be resolved with surgery. Multicenter and recurrent insulinomas, known as insulinomatosis, may require additional medical and surgical management. We report a distinctive case involving recurrent multicenter insulinomatosis devoid of any identified genetic familial predisposition. The patient's complex medical history spans nearly 2 decades, marked by unsuccessful attempts at resolution through surgical enucleation and noninvasive medical management, culminating in the decision for total pancreatectomy.
PubMed: 38746622
DOI: 10.14309/crj.0000000000001350 -
Radiology Case Reports Aug 2024Pheochromocytoma, a neuroendocrine tumor, represents a rare medical condition characterized by the excessive secretion of catecholamines. These tumors often exhibit...
Pheochromocytoma, a neuroendocrine tumor, represents a rare medical condition characterized by the excessive secretion of catecholamines. These tumors often exhibit distinctive features on imaging studies, notably appearing hypervascular. Furthermore, they may present as cystic masses with thin walls, a characteristic that becomes more evident following the administration of contrast medium. The cystic form of adrenal pheochromocytoma, as exemplified in our case, is particularly uncommon, thus underscoring the importance of recognizing its atypical presentation. Accurate diagnosis hinges on a thorough understanding of both the clinical manifestations and radiological findings suggestive of pheochromocytoma. However, definitive confirmation typically necessitates histological examination of the surgical specimen post-adrenalectomy. By shedding light on this rare variant, our case emphasizes the critical role of comprehensive diagnostic approaches in managing such complex medical conditions. Additionally, it underscores the significance of multidisciplinary collaboration among clinicians, radiologists, and pathologists to ensure timely and accurate diagnosis, ultimately guiding appropriate treatment strategies and optimizing patient outcomes.
PubMed: 38741687
DOI: 10.1016/j.radcr.2024.03.079 -
The Journal of Medical Investigation :... 2024Pancreatic GHRHomas (pGHRHomas) with acromegaly have unique conditions, harboring the existence of multiple endocrine neoplasia type 1 (MEN 1). Moreover, pituitary... (Review)
Review
Pancreatic GHRHomas (pGHRHomas) with acromegaly have unique conditions, harboring the existence of multiple endocrine neoplasia type 1 (MEN 1). Moreover, pituitary lesions are affected by both protracted ectopic GHRH and loss of menin function. Of significance is the clarification of clinicopathological aspects of pGHRHomas in patients with or without MEN 1. From 1977-2016, thirty-six patients with pGHRHomas were reported. Twenty-two out of 36 patients (61%) had pGHRHomas with MEN 1 and 14 patients did not. The former had a tendency of male predominance, benign tumor behavior and fewer metastasis rather than the latter. The latter is a single pGHRHoma accompanied by pituitary enlargement with somatotroph hyperplasia (hyperplasia) caused by protracted ectopic GHRH. Nine patients with MEN 1 underwent transsphenoidal surgery (TSS). The hyperplasia associated with various pituitary adenomas (PAs) including three GH-related adenomas was observed in seven subjects (32%). In these patients, the resection of their pGHRHomas was feasible. Furthermore, all patients with acromegaly due to pGHRHomas without MEN 1 had non-TSS, whereas approximately 70% of those with MEN 1 had unnecessary TSS. The association with hyperplasia and various PAs suggested that formation of the three GH-related adenomas may be induced by the foundations of MEN 1 gene mutations. J. Med. Invest. 71 : 1-8, February, 2024.
Topics: Humans; Multiple Endocrine Neoplasia Type 1; Pancreatic Neoplasms; Male; Female; Acromegaly; Middle Aged; Adult; Aged
PubMed: 38735704
DOI: 10.2152/jmi.71.1 -
Animals : An Open Access Journal From... Apr 2024Ovarian tumors in mares are uncommon in comparison to other neoplasms and are classified into three categories: gonadal stromal tumors, coelomic epithelium surface...
Ovarian tumors in mares are uncommon in comparison to other neoplasms and are classified into three categories: gonadal stromal tumors, coelomic epithelium surface tumors, and germinal cell tumors. Some ovarian neoplasms histologically show a mixture of multiple cell types in the same tumor, such as fibrothecoma; therefore, the differentiation between fibroma and thecoma is often difficult. According to the World Health Organization, fibrothecomas are classified as sex-cord stromal tumors (pure stromal tumors). Neoplasms such as fibrothecoma present with limited morphological, clinical, ultrasonographic, and endocrine profile characteristics. To diagnose this type of tumor, a broad clinical examination is needed, but histopathology remains the most accurate. Herein, we report a case of incidentally found ovarian fibrothecoma during a diagnostic laparotomy in a 6-year-old Dutch Warmblood (KWPN) mare who presented to the clinic with colic symptoms. After a unilateral ovariectomy, the altered right ovary was diagnosed as fibrothecoma based on histopathological features.
PubMed: 38731310
DOI: 10.3390/ani14091307 -
Contemporary Clinical Dentistry 2024Multiple endocrine neoplasia (MEN) 2B syndrome is a rare autosomal dominant hereditary condition of neuroendocrine origin characterized by pheochromocytoma, marfanoid...
Multiple endocrine neoplasia (MEN) 2B syndrome is a rare autosomal dominant hereditary condition of neuroendocrine origin characterized by pheochromocytoma, marfanoid habitus, and mucocutaneous neuromas. Multiple mucosal neuromas on the tongue, lips, cheeks, and inner eyelids are often appeared as the earliest signs in most of the undiagnosed cases. Early diagnoses, recognition of phenotype, adequate surgery, and appropriate genetic counseling are very much essential as patients often develop medullary thyroid carcinoma (MTC) and pheochromocytoma. This case report would highlight the oral manifestations of MEN 2B in a 22-year-old female patient with multiple mucosal neuromas and a previous history of thyroidectomy due to MTC.
PubMed: 38707667
DOI: 10.4103/ccd.ccd_215_23 -
Annals of Medicine and Surgery (2012) May 2024Multiple Endocrine Neoplasia Type 2 (MEN2) is a rare autosomal dominant neoplastic syndrome resulting from RET gene mutations, marked by medullary thyroid carcinoma...
INTRODUCTION AND IMPORTANCE
Multiple Endocrine Neoplasia Type 2 (MEN2) is a rare autosomal dominant neoplastic syndrome resulting from RET gene mutations, marked by medullary thyroid carcinoma (MTC) and increased risk of other endocrine tumors. MEN2 includes subtypes MEN2A, MEN2B, and familial MTC. Prophylactic thyroidectomy is recommended for MEN2A due to high MTC risk.
CASE PRESENTATION
A 38-year-old woman with a family history of thyroid cancer presented with headaches, sweating, and palpable breast mass. Exam revealed skin lesions. Lab abnormalities and imaging indicated a large adrenal mass and thyroid nodules. Inconclusive biopsies led to left adrenalectomy, confirming pheochromocytoma. Subsequent total thyroidectomy revealed MTC.
CLINICAL DISCUSSION
This case represents rare MEN2B presentation, featuring MTC, pheochromocytoma, mucosal neuromas, and marfanoid habitus. Genetic testing for RET mutations is crucial with a positive family history. MEN2A individuals undergo prophylactic thyroidectomy due to high MTC risk. Although rare, pheochromocytoma can be an initial MEN2 manifestation, indicated by paroxysmal symptoms. Surgical resection is the treatment.
CONCLUSIONS
The patient's successful adrenalectomy followed by total thyroidectomy confirmed MTC. Thorough evaluation, including inconclusive initial findings, emphasizes imaging, and biopsies. Early detection and appropriate management optimize MEN2 outcomes.
PubMed: 38694328
DOI: 10.1097/MS9.0000000000001867