Multiple endocrine neoplasia type 1 in children and adolescents: Clinical features and treatment outcomes

Shariq, Omair A.; Lines, Kate E; English, Katherine; Jafar-Mohammadi, Bahram; Prentice, Philippa; Casey, Ruth; Challis, Benjamin; Selberherr, Andreas; Boon, Hannah; Cranston, Treena; Ryan, Fiona; Mihai, Radu; Healy, Ultan; Kurzawinski, Tom; Dattani, Mehul; Bancos, Irina; Dy, Benzon M.; Lyden, Melanie L.; Young, William F.; McKenzie, Travis J.; Richards, Duncan; Thakker, Rajesh

doi:10.1016/j.surg.2021.04.041

Cited by 11 publications

(28 citation statements)

References 27 publications

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“…Clinical presentation of MEN1-associated PHPT has been reported to be mild or asymptomatic, with mild elevation of serum calcium and intact PTH levels ( 18 ). Shariq et al ( 19 ) reported the clinical features of 60 patients with MEN1 aged under 18 years old, and none of the patients presented with hypercalcemic crisis. Thus, hypercalcemic crisis seems less likely to occur in pediatric patients with MEN1.…”

Section: Discussionmentioning

confidence: 99%

Hypercalcemic crisis caused by primary hyperparathyroidism in a 11-year-old boy: a rare case report and review of the literature

Hayashi¹,

Oba²,

Ichikawa³

et al. 2022

Gland Surg

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Background: Hypercalcemic crisis caused by primary hyperparathyroidism (PHPT) in pediatric patients is very rare, and appropriate treatment approach for this condition has not been well demonstrated. Here, we report a case of PHPT-induced hypercalcemic crisis in a boy.Case Description: An 11-year-old boy visited the clinic with abdominal pain and nausea that lasted for 3 months, but the cause of his symptoms could not be identified. As these symptoms worsened after 1 month, he was referred to a nearby hospital. The boy's albumin-corrected serum calcium level was very high (14.3 mg/dL). Treatment was immediately started with the administration of normal saline, furosemide, and calcitonin to lower his serum calcium levels. Based on elevated intact-parathyroid hormone (i-PTH) (405 pg/mL) level and enlargement of the right superior parathyroid on diagnostic imaging, he was diagnosed with hypercalcemic crisis due to PHPT. As his albumin-corrected serum calcium level increased to 16.5 mg/dL and he could not take almost any foods due to severe nausea, he was transferred to our hospital and treated with pamidronate. Although his albumin-corrected serum calcium level decreased to 14.0 mg/dL, his symptoms did not improve completely. Therefore, 2 days after transfer to our hospital, he underwent emergency surgery to resect the enlarged right superior parathyroid gland. Fifteen minutes after removal of the enlarged parathyroid gland, the serum intact-PTH level decreased to 41.7 pg/mL. The histopathological diagnosis of the enlarged parathyroid gland was adenoma. The boy became asymptomatic, and his albumin-corrected serum calcium level was maintained within the normal limits for 6 months post operatively. Genetic testing performed after the surgery did not detect any pathogenic mutations in the MEN1 and CDC73 genes, and no genetic predisposition has been identified to date.Conclusions: Emergency focused parathyroidectomy prior to genetic testing might be an appropriate strategy when the pediatric patient presents with a PHPT-induced hypercalcemic crisis.

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Section: Discussionmentioning

confidence: 99%

Hypercalcemic crisis caused by primary hyperparathyroidism in a 11-year-old boy: a rare case report and review of the literature

Hayashi¹,

Oba²,

Ichikawa³

et al. 2022

Gland Surg

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“…MEN1 is characterized by the presence of primary hyperparathyroidism, pituitary tumors, and pancreaticoduodenal neuroendocrine tumors ( 29 ). MEN1 mutations and chromosome 11 isodisomy have been involved in a large population of children and adolescents with insulinoma ( 30 ). However, based on the lack of characteristic clinical findings or family history of MEN1, lack of clinical and genetic findings of BWS, the clinical course of the disease, the initial responsiveness to dioxide treatment, and the expert pathologists’ final reports, we believe that our patient represents a rare case of microinsulinomas with lymph node metastases.…”

Section: Discussionmentioning

confidence: 99%

Case Report: A Difficult-to-Diagnose Case of Hyperinsulinemic Hypoglycemia Surgically Treated After Developing Acute Pancreatitis

et al. 2021

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The patient is a 28-year-old Japanese man diagnosed with severe congenital hyperinsulinemic-hypoglycemia six months after birth. Clinical records revealed no imaging evidence of pancreatic tumor at the time of diagnosis. Subsequently, he had developmental disorders and epilepsy caused by recurrent hypoglycemic attacks. The patient’s hypoglycemia improved with oral diazoxide. However, he developed necrotizing acute pancreatitis at 28 years of age, thought to be due to diazoxide. Discontinuation of diazoxide caused persistent hypoglycemia, requiring continuous glucose supplementation by tube feeding and total parenteral nutrition. A selective arterial secretagogue injection test revealed diffuse pancreatic hypersecretion of insulin. He underwent subtotal distal (72%) pancreatectomy and splenectomy. There was no intraoperative visible pancreatic tumor. His hypoglycemia improved after the surgical procedure. The histopathological study revealed a high density of islets of Langerhans in the pancreatic body and tail. There were large islets of Langerhans and multiple neuroendocrine cell nests in the whole pancreas. Nests of neuroendocrine cells were also detected in lymph nodes. The pathological diagnosis was grade 1 neuroendocrine tumor (microinsulinomas) with lymph node metastases. This patient is a difficult-to-diagnose case of hyperinsulinemic hypoglycemia surgically treated after developing acute pancreatitis. We believe this is a unique case of microinsulinomas with lymph metastases diagnosed and treated as congenital hyperinsulinemic hypoglycemia for almost 28 years.

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“…In paediatric patients who are prospectively screened, at least half already have early signs of pHPT, which is mostly asymptomatic and rarely seen before the age of 10. 13,[24][25][26] Symptomatic pHPT is usually not seen before the third decade of life. pHPT in MEN1 is a multiglandular disease, although glands are often affected asymmetrically and asynchronously.…”

Section: Primary Hyperparathyroidismmentioning

confidence: 99%

“…2 The recommendation for early DNA testing and initiation of screening has increased the knowledge of the spectrum of MEN1 in children, and since the publication of the guidelines five cohorts have been published on the clinical picture of MEN1 in childhood, which are summarized in Table 1. 13,[24][25][26]69 In addition, a study from Brazil reported a 42% prevalence of PanNETs in 19 patients with MEN1 age 12-20 103 of children with MEN1 already have manifestations at the paediatric age (although different age cut-offs are used). 13,[24][25][26]69,103,104 The wide range can partly be explained by different screening practices as Goudet et al 24 found that 73% of those following a screening program <21 years had manifestations diagnosed at the paediatric age, while overall in their cohort this was only 17%.…”

Section: Men1 In Childrenmentioning

confidence: 99%

Update on the clinical management of multiple endocrine neoplasia type 1

Pieterman

Valk

2022

Clinical Endocrinology

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This review provides an overview of novel insights in the clinical management of patients with Multiple Endocrine Neoplasia Type 1, focusing on the last decade since the last update of the MEN1 guidelines. With regard to Diagnosis: Mutation‐negative patients with 2/3 main manifestations have a different clinical course compared to mutation‐positive patients. As for primary hyperparathyroidism: subtotal parathyroidectomy is the initial procedure of choice. Current debate centres around the timing of initial parathyroidectomy as well as the controversial topic of unilateral clearance in young patients. For duodenopancreatic neuroendocrine tumours (NETs), the main challenge is accurate and individualized risk stratification to enable personalized surveillance and treatment. Thymus NETs remain one of the most aggressive MEN1‐related tumours. Lung NETs are more frequent than previously thought, generally indolent, but rare aggressive cases do occur. Pituitary adenomas are most often prolactinomas and nonfunctioning microadenomas with an excellent prognosis and good response to therapy. Breast cancer is recognized as part of the MEN1 syndrome in women and periodical screening is advised. Clinically relevant manifestations are already seen at the paediatric age and initiating screening in the second decade is advisable. MEN1 has a significant impact on quality of life and US data show a significant financial burden. In conclusion, patient outcomes have improved, but much is still to be achieved. For care tailored to the needs of the individual patient and improving outcomes on an individual basis, studies are now needed to define predictors of tumour behaviour and effects of more individualized interventions.

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Multiple endocrine neoplasia type 1 in children and adolescents: Clinical features and treatment outcomes

Cited by 11 publications

References 27 publications

Hypercalcemic crisis caused by primary hyperparathyroidism in a 11-year-old boy: a rare case report and review of the literature

Hypercalcemic crisis caused by primary hyperparathyroidism in a 11-year-old boy: a rare case report and review of the literature

Case Report: A Difficult-to-Diagnose Case of Hyperinsulinemic Hypoglycemia Surgically Treated After Developing Acute Pancreatitis

Update on the clinical management of multiple endocrine neoplasia type 1

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