Application of genetic testing to define the surgical approach in a sporadic case of multiple endocrine neoplasia type 1

Boguszewski, César Luiz; Bianchet, Leila Caroline; Raskin, Salmo; Nomura, Luiz M.; Borba, Luis A. B.; Cavalcanti, Teresa Cristina Santos

doi:10.1590/s0004-27302010000800007

Cited by 4 publications

(6 citation statements)

References 19 publications

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“…The MEN-1 gene was identified in 1997 and consists of 10 exons on chromosome 11q13 encoding a 610-amino acid protein known as Menin. More than 1300 mutations have been identified in the MEN-1 gene to date, and there is no evidence of genotype-phenotype correlations (as in MEN-2) [ 92 , 93 ].…”

Section: Preoperative Diagnosis Of Sporadic Multiglandular Diseasementioning

confidence: 99%

“…In individuals with apparently isolated hyperparathyroidism or pituitary adenomas, the mutation prevalence is lower (2 % to 5 %), but the prevalence is higher in individuals diagnosed with these tumours at younger ages (<40 years old) [ 94 – 96 ]. Some authors suggest MEM-1 testing in those not meeting diagnostic criteria if one of the following is present: gastrinoma at any age, multifocal pancreatic islet cell tumours at any age, parathyroid adenomas before age of 40 years, multiglandular parathyroid adenomas or recurrent hyperparathyroidism or individuals with one of the three main MEN-1 plus one of the less common findings [ 92 , 96 ]. Balogh K et al summarised the indications for genetic screening for MEN-1 (Table 7 ) [ 76 ].…”

Section: Preoperative Diagnosis Of Sporadic Multiglandular Diseasementioning

confidence: 99%

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Sporadic multiple parathyroid gland disease—a consensus report of the European Society of Endocrine Surgeons (ESES)

Barczyński

Bränström

Dionigi

et al. 2015

Langenbecks Arch Surg

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BackgroundSporadic multiglandular disease (MGD) has been reported in literature in 8–33 % of patients with primary hyperparathyroidism (pHPT). This paper aimed to review controversies in the pathogenesis and management of sporadic MGD.MethodsA literature search and review was made to evaluate the level of evidence concerning diagnosis and management of sporadic MGD according to criteria proposed by Sackett, with recommendation grading by Heinrich et al. and Grading of Recommendations, Assessment, Development and Evaluation (GRADE) system. Results were discussed at the 6th Workshop of the European Society of Endocrine Surgeons entitled ‘Hyperparathyroidism due to multiple gland disease: An evidence-based perspective’.ResultsLiterature reports no prospective randomised studies; thus, a relatively low level of evidence was achieved. Appropriate surgical therapy of sporadic MGD should consist of a bilateral approach in most patients. Unilateral neck exploration guided by preoperative imaging should be reserved for selected patients, performed by an experienced endocrine surgeon and monitored by intraoperative parathormone assay (levels of evidence III–V, grade C recommendation). There is conflicting or equally weighted levels IV–V evidence supporting that cure rates can be similar or worse for sporadic MGD than for single adenomas (no recommendation). Best outcomes can be expected if surgery is performed by an experienced parathyroid surgeon working in a high-volume centre (grade C recommendation). Levels IV–V evidence supports that recurrent/persistence pHPT occurs more frequently in patients with double adenomas hence in situations where a double adenoma has been identified, the surgeon should have a high index of suspicion during surgery and postoperatively for the possibility of a four-gland disease (grade C recommendation).ConclusionsIdentifying preoperatively patients at risk for MGD remains challenging, intraoperative decisions are important for achieving acceptable cure rates and long-term follow-up is mandatory in such patients.

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Section: Preoperative Diagnosis Of Sporadic Multiglandular Diseasementioning

confidence: 99%

Section: Preoperative Diagnosis Of Sporadic Multiglandular Diseasementioning

confidence: 99%

Sporadic multiple parathyroid gland disease—a consensus report of the European Society of Endocrine Surgeons (ESES)

Barczyński

Bränström

Dionigi

et al. 2015

Langenbecks Arch Surg

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“…An adequate preoperative diagnosis may help the surgeon to choose the best surgical option (24),(29),(30). It is well documented that measurement of intraoperative PTH may fail in patients undergoing parathyroidectomy for whom MEN1 is not suspected (31).…”

Section: Introductionmentioning

confidence: 99%

Total parathyroidectomy in a large cohort of cases with hyperparathyroidism associated with multiple endocrine neoplasia type 1: experience from a single academic center

Montenegro¹,

Lourenço²,

Tavares³

et al. 2012

Clinics

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Most cases of sporadic primary hyperparathyroidism present disturbances in a single parathyroid gland and the surgery of choice is adenomectomy. Conversely, hyperparathyroidism associated with multiple endocrine neoplasia type 1 (hyperparathyroidism/multiple endocrine neoplasia type 1) is an asynchronic, asymmetrical multiglandular disease and it is surgically approached by either subtotal parathyroidectomy or total parathyroidectomy followed by parathyroid auto-implant to the forearm. In skilful hands, the efficacy of both approaches is similar and both should be complemented by prophylactic thymectomy.In a single academic center, 83 cases of hyperparathyroidism/multiple endocrine neoplasia type 1 were operated on from 1987 to 2010 and our first surgical choice was total parathyroidectomy followed by parathyroid auto-implant to the non-dominant forearm and, since 1997, associated transcervical thymectomy to prevent thymic carcinoid. Overall, 40% of patients were given calcium replacement (mean intake 1.6 g/day) during the first months after surgery, and this fell to 28% in patients with longer follow-up. These findings indicate that several months may be needed in order to achieve a proper secretion by the parathyroid auto-implant. Hyperparathyroidism recurrence was observed in up to 15% of cases several years after the initial surgery. Thus, long-term follow-up is recommended for such cases. We conclude that, despite a tendency to subtotal parathyroidectomy worldwide, total parathyroidectomy followed by parathyroid auto-implant is a valid surgical option to treat hyperparathyroidism/multiple endocrine neoplasia type 1. Larger comparative systematic studies are needed to define the best surgical approach to hyperparathyroidism/multiple endocrine neoplasia type 1.

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“…However, previous studies regarding MEN1 mutations had reported the c.1546dupC mutation as one of dozens of detected mutations [ 7 – 10 ] ; thus, only 1 case of detailed phenotypes of the c.1546dupC mutation has been described. [ 17 ] Our report has the meaning in description of the diversity and severity of clinical manifestations of MEN1 caused by the c.1546dupC mutation.…”

Section: Discussionmentioning

confidence: 99%

“…For this reason, regular biochemical and radiological screening should be conducted for the affected daughter to determine if she has a similar phenotype of MEN1 to her mother. One previous case report of the sporadic MEN1 case mutated with c.1546dupC in a 20-year-old female presenting with Cushing disease and primary hyperparathyroidism [ 17 ] showed the possibility of early development of MEN1-related tumors in the affected individuals with the c.1546dupC mutation.…”

Section: Discussionmentioning

confidence: 99%

A germline c.1546dupC MEN1 mutation in an MEN1 family

Cho

Chung

2021

Medicine

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Rationale: Multiple endocrine neoplasia type 1 (MEN1) is a rare tumor syndrome with an autosomal dominant inheritance, and genetic testing for MEN1 gene is important for both affected individuals and their relatives. We present a 2-person family affected by a germline c.1546dupC MEN1 mutation, and one of them had a full-spectrum of MEN-related endocrine tumors. Patient concerns: A female patient aged 32 years presented with jejunal ulcer perforation due to gastrinoma. Diagnoses: We conducted genetic analysis and extensive biochemical/radiological evaluation for detecting other endocrine tumors. Multiple pancreatic neuroendocrine tumors (NETs), prolactinoma and primary hyperparathyroidism were diagnosed, and a frame-shift mutation, NM_130799.1:c.1546dupC (p.Arg516Profs∗15), was detected. One daughter of the proband, aged 12 years, had the same mutation for MEN1. Intervention: She underwent pancreatic surgery for pancreatic NETs and total parathyroidectomy for primary hyperparathyroidism. Outcomes: After pancreatic surgery, long-term symptoms of epigastric soreness, acid belching, sweating, and palpitation in fasting were improved. Hypercalcemia was improved after parathyroidectomy and she was supplemented with oral calcium and vitamin D. Her daughter showed normal biochemical surveillance until 15 years of age. Lessons: We report 2 people in a family affected by MEN1 with the heterozygous germline c.1546dupC mutation, a variant that should be surveilled for early development of full-blown MEN1-associated endocrine tumors.

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Application of genetic testing to define the surgical approach in a sporadic case of multiple endocrine neoplasia type 1

Cited by 4 publications

References 19 publications

Sporadic multiple parathyroid gland disease—a consensus report of the European Society of Endocrine Surgeons (ESES)

Sporadic multiple parathyroid gland disease—a consensus report of the European Society of Endocrine Surgeons (ESES)

Total parathyroidectomy in a large cohort of cases with hyperparathyroidism associated with multiple endocrine neoplasia type 1: experience from a single academic center

A germline c.1546dupC MEN1 mutation in an MEN1 family

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