Multiple Endocrine Neoplasia Type 2B: Maxillofacial Significance in 5 Cases

MacIntosh, Robert Bruce; Shivapuja, Prasanna-Kumar; Krzemien, M; Lee, Michael

doi:10.1016/j.joms.2014.08.032

Cited by 14 publications

(6 citation statements)

References 43 publications

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“…MEN2B is a rare autosomal dominant genetic disease caused by a mutation of the RET proto-oncogene. The main clinical manifestations are medullary thyroid carcinoma (MTC), multiple mucosal neuroma, pheochromocytoma (PHEO), and Marfan-like habitus [1]. The overall incidence of MEN2B is approximately 1:35,000~1:40,000 [2], and it only accounts for 5-10% of all cases of MEN2 [3]; MEN2B was officially named by Chong [4] in 1975.…”

Section: Introductionmentioning

confidence: 99%

Severe constipation as the first clinical manifestation in multiple endocrine neoplasia type 2B: a case report and literature review

Zhang

Guo

et al. 2020

BMC Pediatr

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Background: The occurrence of multiple endocrine neoplasia type 2B (MEN2B) in Asians is very rare. In particular, patients with intractable constipation as the main clinical manifestation are even rarer. Atypical clinical manifestations are likely to lead to a diagnostic delay. In this report, we described a case of a delayed diagnosis of MEN2B, and the first clinical manifestation was intractable constipation. Case presentation: A female teenager had suffered from intractable constipation since infancy. Because the colonoscopy and biopsy results from local hospitals did not confirm the presence of congenital megacolon, the girl had been followed up at a local clinic for a long time. The diagnosis was not confirmed until thyroid masses were found in the Pediatric Department of Shanghai Ruijin Hospital when she was 12 years old. According to our detailed evaluation, she suffered from Hirschsprung disease (HD), growth retardation, medullary thyroid carcinoma (MTC) and mucosal neuroma due to a mutation in the RET gene. Thus, the diagnosis of MEN2B was confirmed. Afterward, the girl underwent several surgeries and was still being followed up before the article was published. Conclusion: MEN2B has atypical clinical symptoms in the early stage. Refractory constipation may be the only clinical manifestation that lasts for several years. Therefore, we recommend that early screening and gene sequencing should be performed for patients with severe constipation due to HD to determine the cause of the disease and to improve the survival outcome.

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Section: Introductionmentioning

confidence: 99%

Severe constipation as the first clinical manifestation in multiple endocrine neoplasia type 2B: a case report and literature review

Zhang

Guo

et al. 2020

BMC Pediatr

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“…Oral neuromas/neurofibromas were the trigger to perform genetic analysis in two cases, while among the presenting symptoms in one more (out of eight cases), making it a second key element in diagnosing MEN2B. The association between mucosal neuromas/neurofibromas and MEN2B has been described earlier [28][29][30][31][32]. In retrospect, these manifestations had been present since childhood in most, yet unrecognized, and became more pronounced in adolescence in the majority of earlier reported cases [11,12].…”

Section: Discussionmentioning

confidence: 89%

Timely diagnosis of multiple endocrine neoplasia 2B by identification of intestinal ganglioneuromatosis: a case series

et al. 2021

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Background Medullary thyroid carcinoma (MTC) in childhood is rare and has an unfavorable prognosis. To improve outcome, early diagnosis is essential. In patients with multiple endocrine neoplasia type 2B (MEN2B), MTC can occur already before the age of 1 year. Recognition of non-endocrine features of MEN2B may lead to timely diagnosis. Purpose To describe how early recognition of non-endocrine features can lead to a timely diagnosis of MEN2B as well as the effect of recognition of premonitory symptoms on prognosis. Methods A retrospective case series from the University Medical Center Utrecht/Wilhelmina Children’s Hospital, a Dutch national expertise center for MEN patients. All eight MEN2B patients in follow-up between 1976 and 2020 were included and medical records reviewed. Results Intestinal ganglioneuromatosis (IGN) as the cause of gastrointestinal (GI) symptoms was detected in seven patients. In three of them within months after birth. This led to early diagnosis of MEN2B, which allowed subsequent curative thyroid surgery. On the contrary, a MEN2B diagnosis later in childhood—in three patients (also) triggered by oral neuromas/neurofibromas—led to recurrent, persistent, and/or progressive MTC in five patients. Conclusions Neonatal GI manifestations offer the most important window of opportunity for early detection of MEN2B. By accurate evaluation of rectal biopsies in patients with early onset severe constipation, IGN can be timely detected, while ruling out Hirschsprung’s disease. MEN2B gene analysis should follow detection of IGN and—when confirmed—should prompt possibly still curative thyroid surgery.

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“…No association with parathyroid involvement is reported, although this is common in MEN2A. 3 Early diagnosis is relevant, given the high risk of cancer. Unfortunately, MEN2B often goes unnoticed due to the lack of recognition of the characteristic phenotype.…”

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confidence: 99%

“…1 The main physical signs that should alert clinicians are the presence of neuromas of the tongue, oral and labial mucosae with bumpy lips, and multiple mucosal/submucosal neuromas of the conjunctivae and eyelid. 3 Diastema of anterior teeth, elongated face and Marfanoid habitus, ligamentous hyperlaxity, and other skeletal abnormalities, such as pes cavus and scoliosis, are less specific. [3][4][5] The earliest symptoms, present in infancy, are constipation or diarrhea due to intestinal ganglioneuromatosis.…”

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confidence: 99%