Medullary Carcinoma of the Thyroid before Age 2 Years*

Stjernholm, Melvin R.; Freudenbourg, James C.; Mooney, Herbert S.; Kinney, Frank J.; Deftos, Leonard J.

doi:10.1210/jcem-51-2-252

Cited by 32 publications

(9 citation statements)

References 0 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Alternatively, some cases of MEN 2B and MEN 2A-HD become evident at a young age only because of these gastrointestinal manifestations. Because MTC in patients with MEN 2B may develop in infancy, 18 it is important for clinicians managing these patients to understand the presentation of symptoms and the progression of gastrointestinal abnormalities in its two subtypes. For patients from well-documented MEN 2A kindreds, genetic testing may identify those at highest risk for the development of gastrointestinal problems and HD.…”

Section: Discussionmentioning

confidence: 99%

Gastrointestinal Manifestations of Multiple Endocrine Neoplasia Type 2

Cohen¹,

Phay²,

Albinson³

et al. 2002

Annals of Surgery

View full text Add to dashboard Cite

ObjectiveTo determine the clinical features, natural history, and role of surgery for gastrointestinal manifestations of the multiple endocrine neoplasia type 2 (MEN 2) syndromes. Summary Background DataThe MEN 2 syndromes are characterized by medullary thyroid carcinoma and other endocrinopathies. In addition, some patients with MEN 2A develop Hirschsprung's disease (HD), and all patients with MEN 2B have intestinal neuromas and megacolon that can cause significant gastrointestinal problems. MethodsFrom 83 families with MEN 2A, eight patients with HD were identified (MEN 2A-HD). These and all patients with MEN 2B followed at the authors' institution (n ϭ 53) were sent questionnaires to describe the onset and type of gastrointestinal symptoms and treatment they had before the diagnosis of MEN 2. Records of all patients responding were reviewed, including radiographic imaging, histology, surgical records, and genetic testing. ResultsThirty-six of the 61 patients (59%) responded (MEN 2A ϭ 8, MEN 2B ϭ 28) to the questionnaires. All patients with MEN 2A-HD were operated on for HD 2 to 63 years before being diagnosed with MEN 2. All patients responding were underweight as infants and had symptoms of abdominal pain, distention, and constipation. Eighty-eight percent had hematochezia, 63% had emesis, and 33% had intermittent diarrhea before surgery. All patients with MEN 2A-HD had rectal biopsies with a diverting colostomy as the initial surgical procedure. This was followed by a colostomy takedown and pullthrough procedure at a later interval. Ninety-three percent of patients with MEN 2B had gastrointestinal symptoms 1 to 24 years before the diagnosis of MEN 2. Symptoms included flatulence (86%), abdominal distention or being underweight as a child (64%), abdominal pain (54%), constipation or diarrhea (43%), difficulty swallowing (39%), and vomiting (14%). Seventy-one percent of patients with MEN-2B with gastrointestinal symptoms had radiographic imaging, 32% were admitted to the hospital, and 29% underwent surgery. ConclusionsPatients with MEN 2A-HD had a typical HD presentation and always required surgery. Patients with MEN 2B have significant gastrointestinal symptoms, but less than a third had surgical intervention. Understanding the clinical course and differences in these patients will improve clinical management.The multiple endocrine neoplasia (MEN) type 2 syndromes include MEN 2A, MEN 2B, and familial, non-MEN medullary thyroid carcinoma. These are autosomal dominant inherited syndromes that are caused by germline mutations in the RET protooncogene. The hallmark of these syndromes is the development of medullary thyroid carcinoma (MTC), which is multifocal and bilateral and usually occurs at a young age. MTC occurs in almost all patients with the MEN 2 syndromes. Other features are variably expressed. In MEN 2A, pheochromocytomas develop in approximately 42% of affected patients; they may also be multifocal and bilateral, and are associated with adrenal medullary hyperplasia. Hyperparathyroidism occurs in 25%...

show abstract

Section: Discussionmentioning

confidence: 99%

Gastrointestinal Manifestations of Multiple Endocrine Neoplasia Type 2

Cohen¹,

Phay²,

Albinson³

et al. 2002

Annals of Surgery

View full text Add to dashboard Cite

show abstract

“…Children with MEN2B and/or RET codon 883, 918, or 922 mutation are classified as level 3 or as having the highest risk from aggressive MTC and should have thyroidectomy within the first 6 months and preferably within the first month of life. The finding of microscopic MTC within the first year of life in this setting is common, and metastasis during the first year of life has been described (137)(138)(139)(140)(141). Thyroid surgery for MEN2B should include a central node dissection.…”

Section: Hpt In Men2mentioning

confidence: 99%

CONSENSUS: Guidelines for Diagnosis and Therapy of MEN Type 1 and Type 2

Brandi¹,

Gagel²,

Angeli³

et al. 2001

The Journal of Clinical Endocrinology & Metabolism

1,463

445

View full text Add to dashboard Cite

“…Others have suggested prophylactic thyroidectomy even earlier (within the first 6 months or preferentially within the first month) in these cases (You et al 2007). To support their recommendations, these investigators emphasized that the finding of microscopic MTC within the first year of life in this setting is common, and that even metastasis during the first year of life has been described (Stjernholm et al 1980, Kaufman et al 1982, Samaan et al 1991, Smith et al 1999.…”

Section: Timing Of Prophylactic Thyroidectomymentioning

confidence: 99%

The genetic basis of hereditary medullary thyroid cancer: clinical implications for the surgeon, with a particular emphasis on the role of prophylactic thyroidectomy

Sakorafas¹,

Friess²,

Peros³

2008

Endocrine Related Cancer

View full text Add to dashboard Cite

Medullary thyroid cancer (MTC) may occur either sporadically or on a hereditary basis. Hereditary MTC may be observed with either multiple endocrine neoplasia syndromes (MEN 2A and MEN 2B) or as familial MTC (FMTC). Despite the rarity of these syndromes, early diagnosis is especially important, since MTC is a lethal disease if not promptly and appropriately treated. Recently, the development of genetic testing and direct DNA analysis allows the identification of asymptomatic patients. Surgical prophylaxis should be considered in these cases, ideally to prevent the development of MTC. During the recent decade, the concept of 'codon-directed' timing of prophylactic surgery emerged as a reasonable strategy in the management of these patients. Currently, genetic analysis offers the possibility to define genotype-phenotype correlations and to adjust the time of prophylactic surgery. Hereditary MTC is a model of genetically determined cancer in which both diagnostic and therapeutic strategies rely on the identification of specific mutations.Endocrine-Related Cancer (2008) 15 871-884

show abstract

Medullary Carcinoma of the Thyroid before Age 2 Years*

Cited by 32 publications

References 0 publications

Gastrointestinal Manifestations of Multiple Endocrine Neoplasia Type 2

Gastrointestinal Manifestations of Multiple Endocrine Neoplasia Type 2

CONSENSUS: Guidelines for Diagnosis and Therapy of MEN Type 1 and Type 2

The genetic basis of hereditary medullary thyroid cancer: clinical implications for the surgeon, with a particular emphasis on the role of prophylactic thyroidectomy

Contact Info

Product

Resources

About