Mucosal Neuroma Syndrome without mutations of the RET-protooncogene: A histologic study on a case, supported by molecular genetic analysis.

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Abstract

Mucosal neuromas are nerve hamartomas of the digestive tract and larynx, usually observed in the setting of Multiple Endocrine Neoplasia type 2B (MEN2B), i.e. in the presence of typical mutations and in association with medullary thyroid carcinoma, pheochromocytoma and marfanoid habitus. Exceptionally, they arise without the accompanying mutations and endocrine tumors, and in this paper we are reporting a histologic study on a case lacking the specific mutations. The patient was an adolescent girl with marfanoid habitus, with a left-sided epidermal nevus of the neck, and a bulging left upper lip and cheek. The left side of her tongue was considerably enlarged and studded with multiple protrusions. The histologic examination of the tongue showed a proliferation of tortuous gigantic nerve trunks, composed of multiple small bundles of argyrophylic and fully mylinated axons, invested by extremely hyperplasic perineurium and epineurium. These architectural distortions and disproportions, in the absence of disorders of polarity, imparted to the picture a dysmorphic, rather than neoplastic imprint. Although the required follow-up procedures were hindered by the patient’s unavailability, DNA sequencing, performed on the paraffin specimen, demonstrated that none of the RET mutations reported to date in MEN2B were present in our case. Therefore, this syndrome could be reasonably excluded and a final diagnosis of Multiple Neuroma Syndrome was assessed. Awareness of mucosal neuroma can be critical for the patient’s survival, since this rare and often underrated neoplasm is likely to be an early marker of MEN2B, a life-threatening syndrome which requires early prophylactic surgery.
Lingua originaleEnglish
pagine (da-a)298-305
Numero di pagine8
RivistaDefault journal
Volume31
Stato di pubblicazionePublished - 2010

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Multiple Endocrine Neoplasia Type 2b
Neuroma
Molecular Biology
Mutation
Peripheral Nerves
Tongue
Hamartoma
Cheek
Pheochromocytoma
Larynx
Lip
DNA Sequence Analysis
Paraffin
Axons
Gastrointestinal Tract
Neoplasms
Neck
Survival

All Science Journal Classification (ASJC) codes

  • Surgery
  • Dermatology

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title = "Mucosal Neuroma Syndrome without mutations of the RET-protooncogene: A histologic study on a case, supported by molecular genetic analysis.",
abstract = "Mucosal neuromas are nerve hamartomas of the digestive tract and larynx, usually observed in the setting of Multiple Endocrine Neoplasia type 2B (MEN2B), i.e. in the presence of typical mutations and in association with medullary thyroid carcinoma, pheochromocytoma and marfanoid habitus. Exceptionally, they arise without the accompanying mutations and endocrine tumors, and in this paper we are reporting a histologic study on a case lacking the specific mutations. The patient was an adolescent girl with marfanoid habitus, with a left-sided epidermal nevus of the neck, and a bulging left upper lip and cheek. The left side of her tongue was considerably enlarged and studded with multiple protrusions. The histologic examination of the tongue showed a proliferation of tortuous gigantic nerve trunks, composed of multiple small bundles of argyrophylic and fully mylinated axons, invested by extremely hyperplasic perineurium and epineurium. These architectural distortions and disproportions, in the absence of disorders of polarity, imparted to the picture a dysmorphic, rather than neoplastic imprint. Although the required follow-up procedures were hindered by the patient’s unavailability, DNA sequencing, performed on the paraffin specimen, demonstrated that none of the RET mutations reported to date in MEN2B were present in our case. Therefore, this syndrome could be reasonably excluded and a final diagnosis of Multiple Neuroma Syndrome was assessed. Awareness of mucosal neuroma can be critical for the patient’s survival, since this rare and often underrated neoplasm is likely to be an early marker of MEN2B, a life-threatening syndrome which requires early prophylactic surgery.",
keywords = "DNA sequencing, MEN2B syndrome, histopathology, mucosal neuroma",
author = "Elena Castelli and Vincenza Morello and Arianna Gullo and Tomasino, {Rosa Maria} and Miraglia, {Maria Carlotta}",
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T1 - Mucosal Neuroma Syndrome without mutations of the RET-protooncogene: A histologic study on a case, supported by molecular genetic analysis.

AU - Castelli, Elena

AU - Morello, Vincenza

AU - Gullo, Arianna

AU - Tomasino, Rosa Maria

AU - Miraglia, Maria Carlotta

PY - 2010

Y1 - 2010

N2 - Mucosal neuromas are nerve hamartomas of the digestive tract and larynx, usually observed in the setting of Multiple Endocrine Neoplasia type 2B (MEN2B), i.e. in the presence of typical mutations and in association with medullary thyroid carcinoma, pheochromocytoma and marfanoid habitus. Exceptionally, they arise without the accompanying mutations and endocrine tumors, and in this paper we are reporting a histologic study on a case lacking the specific mutations. The patient was an adolescent girl with marfanoid habitus, with a left-sided epidermal nevus of the neck, and a bulging left upper lip and cheek. The left side of her tongue was considerably enlarged and studded with multiple protrusions. The histologic examination of the tongue showed a proliferation of tortuous gigantic nerve trunks, composed of multiple small bundles of argyrophylic and fully mylinated axons, invested by extremely hyperplasic perineurium and epineurium. These architectural distortions and disproportions, in the absence of disorders of polarity, imparted to the picture a dysmorphic, rather than neoplastic imprint. Although the required follow-up procedures were hindered by the patient’s unavailability, DNA sequencing, performed on the paraffin specimen, demonstrated that none of the RET mutations reported to date in MEN2B were present in our case. Therefore, this syndrome could be reasonably excluded and a final diagnosis of Multiple Neuroma Syndrome was assessed. Awareness of mucosal neuroma can be critical for the patient’s survival, since this rare and often underrated neoplasm is likely to be an early marker of MEN2B, a life-threatening syndrome which requires early prophylactic surgery.

AB - Mucosal neuromas are nerve hamartomas of the digestive tract and larynx, usually observed in the setting of Multiple Endocrine Neoplasia type 2B (MEN2B), i.e. in the presence of typical mutations and in association with medullary thyroid carcinoma, pheochromocytoma and marfanoid habitus. Exceptionally, they arise without the accompanying mutations and endocrine tumors, and in this paper we are reporting a histologic study on a case lacking the specific mutations. The patient was an adolescent girl with marfanoid habitus, with a left-sided epidermal nevus of the neck, and a bulging left upper lip and cheek. The left side of her tongue was considerably enlarged and studded with multiple protrusions. The histologic examination of the tongue showed a proliferation of tortuous gigantic nerve trunks, composed of multiple small bundles of argyrophylic and fully mylinated axons, invested by extremely hyperplasic perineurium and epineurium. These architectural distortions and disproportions, in the absence of disorders of polarity, imparted to the picture a dysmorphic, rather than neoplastic imprint. Although the required follow-up procedures were hindered by the patient’s unavailability, DNA sequencing, performed on the paraffin specimen, demonstrated that none of the RET mutations reported to date in MEN2B were present in our case. Therefore, this syndrome could be reasonably excluded and a final diagnosis of Multiple Neuroma Syndrome was assessed. Awareness of mucosal neuroma can be critical for the patient’s survival, since this rare and often underrated neoplasm is likely to be an early marker of MEN2B, a life-threatening syndrome which requires early prophylactic surgery.

KW - DNA sequencing

KW - MEN2B syndrome

KW - histopathology

KW - mucosal neuroma

UR - http://hdl.handle.net/10447/55574

M3 - Article

VL - 31

SP - 298

EP - 305

JO - Default journal

JF - Default journal

ER -