Multiple endocrine neoplasia syndromes are autosomal dominant Autosomal dominant Autosomal inheritance, both dominant and recessive, refers to the transmission of genes from the 22 autosomal chromosomes. Autosomal dominant diseases are expressed when only 1 copy of the dominant allele is inherited. Autosomal Recessive and Autosomal Dominant Inheritance inherited conditions characterized by 2 or more hormone-producing tumors involving the endocrine organs. There are different types of MEN, namely MEN1–4. The MEN1 syndrome is associated with MEN1 gene Gene A category of nucleic acid sequences that function as units of heredity and which code for the basic instructions for the development, reproduction, and maintenance of organisms. Basic Terms of Genetics mutation Mutation Genetic mutations are errors in DNA that can cause protein misfolding and dysfunction. There are various types of mutations, including chromosomal, point, frameshift, and expansion mutations. Types of Mutations and has a predilection for primary hyperparathyroidism Primary hyperparathyroidism A condition of abnormally elevated output of parathyroid hormone due to parathyroid hyperplasia or parathyroid neoplasms. It is characterized by the combination of hypercalcemia, phosphaturia, elevated renal 1, 25-dihydroxyvitamin d3 synthesis, and increased bone resorption. Hyperparathyroidism, pituitary adenomas Pituitary adenomas Pituitary adenomas are tumors that develop within the anterior lobe of the pituitary gland. Non-functioning or non-secretory adenomas do not secrete hormones but can compress surrounding pituitary tissue, leading to hypopituitarism. Secretory adenomas secrete various hormones depending on the cell type from which they evolved, leading to hyperpituitarism. Pituitary Adenomas, and pancreatic tumors (the 3 P’s). Due to the RET proto-oncogene mutation Mutation Genetic mutations are errors in DNA that can cause protein misfolding and dysfunction. There are various types of mutations, including chromosomal, point, frameshift, and expansion mutations. Types of Mutations, MEN2 syndrome can be further categorized as MEN2A and MEN2B. Medullary thyroid Thyroid The thyroid gland is one of the largest endocrine glands in the human body. The thyroid gland is a highly vascular, brownish-red gland located in the visceral compartment of the anterior region of the neck. Thyroid Gland: Anatomy carcinoma and pheochromocytoma Pheochromocytoma Pheochromocytoma is a catecholamine-secreting tumor derived from chromaffin cells. The majority of tumors originate in the adrenal medulla, but they may also arise from sympathetic ganglia (also referred to as paraganglioma). Symptoms are associated with excessive catecholamine production and commonly include hypertension, tachycardia, headache, and sweating. Pheochromocytoma are common features. The MEN2A variant is associated with primary hyperparathyroidism Primary hyperparathyroidism A condition of abnormally elevated output of parathyroid hormone due to parathyroid hyperplasia or parathyroid neoplasms. It is characterized by the combination of hypercalcemia, phosphaturia, elevated renal 1, 25-dihydroxyvitamin d3 synthesis, and increased bone resorption. Hyperparathyroidism, whereas MEN2B (also considered MEN3) is associated with neuromas and Marfanoid habitus. The newer and rare entity, MEN4, has features of MEN1 but results from CDKN1B mutations. The diagnosis is clinical, and tumors are detected based on imaging and correlating hormone levels. Genetic testing Genetic Testing Detection of a mutation; genotype; karyotype; or specific alleles associated with genetic traits, heritable diseases, or predisposition to a disease, or that may lead to the disease in descendants. It includes prenatal genetic testing. Myotonic Dystrophies plays a crucial role in MEN2 syndromes in determining further management. Treatment is dependent on the tumors that are present and genetic mutation Mutation Genetic mutations are errors in DNA that can cause protein misfolding and dysfunction. There are various types of mutations, including chromosomal, point, frameshift, and expansion mutations. Types of Mutations.
Last updated: 1 Apr, 2021
Multiple endocrine neoplasia (MEN) syndromes are genetic disorders characterized by the presence of ≥ 2 endocrine tumors.
MEN1 | MEN2A and MEN2B | MEN4 | |
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Pattern | Autosomal dominant Autosomal dominant Autosomal inheritance, both dominant and recessive, refers to the transmission of genes from the 22 autosomal chromosomes. Autosomal dominant diseases are expressed when only 1 copy of the dominant allele is inherited. Autosomal Recessive and Autosomal Dominant Inheritance | Autosomal dominant Autosomal dominant Autosomal inheritance, both dominant and recessive, refers to the transmission of genes from the 22 autosomal chromosomes. Autosomal dominant diseases are expressed when only 1 copy of the dominant allele is inherited. Autosomal Recessive and Autosomal Dominant Inheritance | Autosomal dominant Autosomal dominant Autosomal inheritance, both dominant and recessive, refers to the transmission of genes from the 22 autosomal chromosomes. Autosomal dominant diseases are expressed when only 1 copy of the dominant allele is inherited. Autosomal Recessive and Autosomal Dominant Inheritance |
Genetic mutation Mutation Genetic mutations are errors in DNA that can cause protein misfolding and dysfunction. There are various types of mutations, including chromosomal, point, frameshift, and expansion mutations. Types of Mutations | MEN1 gene Gene A category of nucleic acid sequences that function as units of heredity and which code for the basic instructions for the development, reproduction, and maintenance of organisms. Basic Terms of Genetics on chromosome Chromosome In a prokaryotic cell or in the nucleus of a eukaryotic cell, a structure consisting of or containing DNA which carries the genetic information essential to the cell. Basic Terms of Genetics 11 (11q13) | RET proto-oncogene on chromosome Chromosome In a prokaryotic cell or in the nucleus of a eukaryotic cell, a structure consisting of or containing DNA which carries the genetic information essential to the cell. Basic Terms of Genetics 10 (10q11.2) | CDKN1B on chromosome Chromosome In a prokaryotic cell or in the nucleus of a eukaryotic cell, a structure consisting of or containing DNA which carries the genetic information essential to the cell. Basic Terms of Genetics 12 (12p13) |
Clinical features |
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MEN2A
MEN2B
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Treatment |
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Insulinoma
Insulinoma
A benign tumor of the pancreatic beta cells. Insulinoma secretes excess insulin resulting in hypoglycemia.
Pancreatic Neuroendocrine Tumors (PanNETs):
Magnetic resonance imaging of the abdomen of a 34-year-old man presenting with
hypoglycemia
Hypoglycemia
Hypoglycemia is an emergency condition defined as a serum glucose level ≤ 70 mg/dL (≤ 3.9 mmol/L) in diabetic patients. In nondiabetic patients, there is no specific or defined limit for normal serum glucose levels, and hypoglycemia is defined mainly by its clinical features.
Hypoglycemia and
hypercalcemia
Hypercalcemia
Hypercalcemia (serum calcium > 10.5 mg/dL) can result from various conditions, the majority of which are due to hyperparathyroidism and malignancy. Other causes include disorders leading to vitamin D elevation, granulomatous diseases, and the use of certain pharmacological agents. Symptoms vary depending on calcium levels and the onset of hypercalcemia.
Hypercalcemia. Multiple pancreatic lesions are seen with the arrows highlighting the largest lesion. The
mass
Mass
Three-dimensional lesion that occupies a space within the breast
Imaging of the Breast is a 2.8 cm x 1.3 cm area of
variable
Variable
Variables represent information about something that can change. The design of the measurement scales, or of the methods for obtaining information, will determine the data gathered and the characteristics of that data. As a result, a variable can be qualitative or quantitative, and may be further classified into subgroups.
Types of Variables enhancement and
diffusion
Diffusion
The tendency of a gas or solute to pass from a point of higher pressure or concentration to a point of lower pressure or concentration and to distribute itself throughout the available space. Diffusion, especially facilitated diffusion, is a major mechanism of biological transport.
Peritoneal Dialysis and Hemodialysis restriction within the
pancreas
Pancreas
The pancreas lies mostly posterior to the stomach and extends across the posterior abdominal wall from the duodenum on the right to the spleen on the left. This organ has both exocrine and endocrine tissue.
Pancreas: Anatomy, consistent with
insulinoma
Insulinoma
A benign tumor of the pancreatic beta cells. Insulinoma secretes excess insulin resulting in hypoglycemia.
Pancreatic Neuroendocrine Tumors (PanNETs).
Further tests revealed elevated intact
parathyroid
Parathyroid
The parathyroid glands are 2 pairs of small endocrine glands found in close proximity to the thyroid gland. The superior parathyroid glands are lodged within the parenchyma of the upper poles of the right and left thyroid lobes; the inferior parathyroid glands are close to the inferior tips or poles of the lobes.
Parathyroid Glands: Anatomy hormone. With
primary hyperparathyroidism
Primary hyperparathyroidism
A condition of abnormally elevated output of parathyroid hormone due to parathyroid hyperplasia or parathyroid neoplasms. It is characterized by the combination of hypercalcemia, phosphaturia, elevated renal 1, 25-dihydroxyvitamin d3 synthesis, and increased bone resorption.
Hyperparathyroidism and
insulinoma
Insulinoma
A benign tumor of the pancreatic beta cells. Insulinoma secretes excess insulin resulting in hypoglycemia.
Pancreatic Neuroendocrine Tumors (PanNETs),
genetic testing
Genetic Testing
Detection of a mutation; genotype; karyotype; or specific alleles associated with genetic traits, heritable diseases, or predisposition to a disease, or that may lead to the disease in descendants. It includes prenatal genetic testing.
Myotonic Dystrophies was performed, which showed MEN1
gene
Gene
A category of nucleic acid sequences that function as units of heredity and which code for the basic instructions for the development, reproduction, and maintenance of organisms.
Basic Terms of Genetics
mutation
Mutation
Genetic mutations are errors in DNA that can cause protein misfolding and dysfunction. There are various types of mutations, including chromosomal, point, frameshift, and expansion mutations.
Types of Mutations that confirmed the presence of MEN1 syndrome.
To recall the locations of tumor Tumor Inflammation development in MEN1, remember the 3 Ps PS Invasive Mechanical Ventilation:
Multiple endocrine neoplasia (MEN)2B:
Image shows neuromas on the anterior third of the
tongue
Tongue
The tongue, on the other hand, is a complex muscular structure that permits tasting and facilitates the process of mastication and communication. The blood supply of the tongue originates from the external carotid artery, and the innervation is through cranial nerves.
Lips and Tongue: Anatomy in a patient with MEN2B
Multiple endocrine neoplasia (MEN)2B:
Image shows that the patient has a
goiter
Goiter
A goiter is a chronic enlargement of the thyroid gland due to nonneoplastic growth occurring in the setting of hypothyroidism, hyperthyroidism, or euthyroidism. Morphologically, thyroid enlargement can be diffuse (smooth consistency) or nodular (uninodular or multinodular).
Goiter with a
thyroid
Thyroid
The thyroid gland is one of the largest endocrine glands in the human body. The thyroid gland is a highly vascular, brownish-red gland located in the visceral compartment of the anterior region of the neck.
Thyroid Gland: Anatomy
nodule
Nodule
Chalazion on the right lobe.
Biopsy
Biopsy
Removal and pathologic examination of specimens from the living body.
Ewing Sarcoma later revealed medullary
thyroid
Thyroid
The thyroid gland is one of the largest endocrine glands in the human body. The thyroid gland is a highly vascular, brownish-red gland located in the visceral compartment of the anterior region of the neck.
Thyroid Gland: Anatomy carcinoma.
To recall the location of tumor Tumor Inflammation development in MEN2, remember the 3 Ps PS Invasive Mechanical Ventilation: