Multiple Endocrine Neoplasia Type 2B: Early Diagnosis by Multiple Mucosal Neuroma and Its DNA Analysis

Lee, Min Jung; Chung, Ki Hun; Park, Joon Soo; Chung, Hyun Woo; Jang, Hyo Chan; Kim, Jong Won

doi:10.5021/ad.2010.22.4.452

Cited by 36 publications

(22 citation statements)

References 18 publications

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“…However, its clinical course is the most aggressive of the MEN 2. 5 Other distinctive features of MEN 2B are the presence of an elongated face, thick and turned out eyelids and prominent lips. 2,3 MEN 2B is characterised by medullary thyroid carcinoma (MTC), pheochromocytoma, mucosal neuromas, ganglioneuromatosis and marfanoid appearance.…”

Section: Discussionmentioning

confidence: 99%

Multiple Mucosal Neuromas in the Larynx as Part of a Multiple Endocrine Neoplasia Type 2B

Soroa-Ruiz

Lara-Sánchez

Anguiano

et al. 2014

Acta Otorrinolaringologica (English Edition)

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Section: Discussionmentioning

confidence: 99%

Multiple Mucosal Neuromas in the Larynx as Part of a Multiple Endocrine Neoplasia Type 2B

Soroa-Ruiz

Lara-Sánchez

Anguiano

et al. 2014

Acta Otorrinolaringologica (English Edition)

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“…c Die Schleimhautneurome (Pfeile) an der Unterlippe imponieren nodulär und mit glänzender Oberfläche Abb. 2 Unser Patient wies histologisch gesicherte Neurome an der Lidkante, der Schläfe und der Unterlippe auf. Die Kombination von Neuromen an der Lidkante und Lippe wird als hochverdächtig auf ein MEN2b-Snydrom angesehen.…”

Section: Humangenetische Untersuchungunclassified

“…Sie reagieren immunhistochemisch mit verschiedenen Markern für neuronales Gewebe wie S100, PGP, Vimentin und NSE (neuronenspezifische Enolase). Das Vorhandensein von EMA-positivem Perineurium sowie Neurofilament-positiven axonalen Fortsätzen innerhalb der Läsion kann als Hinweis auf das Vorliegen eines Neuroms gesehen werden (im Englischen auch unter dem Begriff "palisaded encapsulated neuroma" [PEN] bekannt) [2,3]. Dennoch ist die Abgrenzung zu anderen neuronalen Tumoren wie dem Schwannom (= Neurinom) oder Neurofibrom nicht immer eindeutig.…”

Section: Humangenetische Untersuchungunclassified

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Lidkanten- und Lippentumoren ohne MEN2b-Syndrom bei einem 29-jährigen Mann

et al. 2016

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Neuromas of the eyelid margin and lower lip were diagnosed in a 29-year-old man. As the combination of these lesions is indicative of multiple endocrine neoplasia type 2b (MEN2b) syndrome, the presence of a medullary thyroid carcinoma or a pheochromocytoma were excluded by a systematic work-up. A mutation in the RET proto-oncogene was not found by genetic testing. In summary, the patient presented with neuromas on the eyelid margin and lower lip without an association to a syndrome; however, patients with such neuromas should be screened for MEN2b syndrome due to the high mortality.

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“…Large numbers of neuromas on the lip or the anterior dorsal surface of the tongue can cause a "blubbery lip" or "frogspawnlike tongue" appearance ( Fig. 2G) [17]. Neuromas may also be seen on the sclera and eyelids, sometimes causing the lid to turn inside out.…”

Section: Hamartoma-related Syndromesmentioning

confidence: 99%

More Than Just Skin Deep: Faciocutaneous Clues to Genetic Syndromes with Malignancies

et al. 2012

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Genetic syndromes with dermatologic findings and multisystemic involvement (e.g., visceral cancer predisposition) are underrecognized. Patients may have incomplete penetrance and variable expressivity; some patients may solely exhibit subtle skin signs, which create a diagnostic challenge for physicians. Interdisciplinary diagnostic knowledge is required for the early diagnosis and monitoring of patients with these syndromes. Cutaneous changes in the face-one of the most highly exposed areas-can be easily noticed by patients themselves, their families and friends, and physicians; these changes may serve as early indicators of genetic syndromes with malignancies. In this article, we present examples of genetic syndromes with malignancies for which a thorough faciocutaneous examination is helpful in establishing a diagnosis. These examples include lentiginosis-related syndromes (e.g., Peutz-Jeghers syndrome, Carney complex), photosensitivity-related syndromes (Bloom syndrome, Rothmund-Thomson syndrome), and hamartoma-related syndromes (Cowden syndrome, multiple endocrine neoplasia syndrome, tuberous sclerosis complex, Gardner syndrome, Muir-Torre syndrome). The characteristics of these faciocutaneous clues are summarized and discussed. Objective evaluation of these faciocutaneous clues in combination with other clinical information (e.g., family history, histopathological findings, combination with other concomitant faciocutaneous lesions) is emphasized to narrow the diagnosis. The list of genetic syndromes with faciocutaneous manifestations is still expanding. Increased awareness of faciocutaneous markers can alert physicians to underlying syndromes and malignancies, render earlier screening and detection of associated medical issues, and allow for genetic counseling of family members. The Oncologist 2012;17:930 -936

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Multiple Endocrine Neoplasia Type 2B: Early Diagnosis by Multiple Mucosal Neuroma and Its DNA Analysis

Cited by 36 publications

References 18 publications

Multiple Mucosal Neuromas in the Larynx as Part of a Multiple Endocrine Neoplasia Type 2B

Multiple Mucosal Neuromas in the Larynx as Part of a Multiple Endocrine Neoplasia Type 2B

Lidkanten- und Lippentumoren ohne MEN2b-Syndrom bei einem 29-jährigen Mann

More Than Just Skin Deep: Faciocutaneous Clues to Genetic Syndromes with Malignancies

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