Essay Example on Genetics of Parathyroid Tumors

The article, Genetics of parathyroid tumors explains that parathyroid tumors have a close association with hypercalcemia and affects about 30 people in a population of 100,000 adults. Additionally, they are expensive to treat, meaning that the poor may not afford the healthcare costs. On average, the primary hyperparathyroidism (PHPT) patients can incur up to $37000 annually as treatment costs. Additionally, the parathyroid tumors can occur as sporadic PHPT or isolated familial PHPT. Nevertheless, it may be quite difficult to differentiate between the two (FIHP and the PHPT). The primary PHPT can occur in many forms, which are the HPT-JT, and the multiple endocrine neoplasia 1-4, commonly referred to as MEN types or as the syndromic forms of PHPT. On the other hand, there are some non-syndromic forms of PHPT, which include the hyperparathyroidism-jaw tumor syndrome (HPT-JT).

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The MEN types are among the disorders that commonly affects the glands responsible for the production of hormones in the body, mainly the endocrine system. The primary function of hormones is to regulate the functioning of body tissues and cells and is transported in the bloodstream. However, the multiple endocrine neoplasias feature tumors that can develop in the endocrine glands and other tissues or organs in the body. These forms of growth can lead to health effect as they have been identified to be the causative agents for malignant (cancerous), or benign (noncancerous) cells in the body. In case the tumors turn to be malignant, they will pose a severe health effect that can be too expensive to treat or manage. As explained in the article on the Genetics of parathyroid tumors, the type 1 and type 2 MEN are not easy to distinguish because this can only be done by determining the genes that have been involved, signs and symptoms, and the hormones produced.

Type 1 and 2 MEN increase the risk of suffering from multiple noncancerous and cancerous tumors in specific glands such as the pituitary and the parathyroid glands. This means that most of these tumors are common when MEN occurs in two out of the three endocrine glands in the body, which include the pituitary, parathyroid, and the pancreatico -duodenum. On the other hand, the HPT-JT is dominantly inherited autosomal disorder whose main features include the cystic or neoplastic lesions. They are found in three organs that include the jaws, parathyroid glands, and the kidneys. It is necessary to diagnose the disease because of the possibility of the emergence of diseases such as the malignant disease. Additionally, jaw tumors can be recurrent or bilateral lesions, and they involve mandible or maxilla.

People who have type 1MEN have a single mutated copy of the MEN 1 gene for every cell in the body and these number increases during ones lifetime. This means that such people inherits the condition and are considered to have an autosomal pattern. Such individuals are typically born with a single muted copy for every cell. As a result, the person undergoes gene mutations that lead to cell division with minimal control and thus forming tumors. MEN 1 patient have a high likelihood of suffering from duodenal/gastric ulcers, because of the greater amount of gastric acid. Additionally, pancreatic islet cell tumors affect such people, meaning that the type 1MEN is the most common. For the case of MEN 3 patients, they have two common growths. Such increases mainly occur in the neck in a butterfly-shaped structure and the adrenal glands. However, its effect in the thyroid gland is severe and cancerous as compared to that of MEN 2 type. While checking for these growths, the medical professionals mainly rely on the urine and blood tests, and abdominal and neck scans to determine their presence.

The tests are recommended during the early stages of childhood as the effects and possibility of mutations and be detected and treated in time. For the case of MEN 4, the condition is relatively rare and involves inherited cancer that is mainly characterized by the anterior pituitary and parathyroid tumors, which are associated with the renal, adrenal, and tumors in the reproductive system. Unlike other tumors, the MEN 4 mainly occurs later in life, after 30 years for pituitary tumors, and 40 years for parathyroid tumors. This type of disorder is primarily caused by the heterozygous inactivation of mutations of the CDKN1B gene. Moreover, the PHPT may occur as non-syndromic (isolated) disorders that can be hereditary or nonfamilial (sporadic).

From the article, I have learned three main things. The main one is that the MEN 1-4 types are commonly referred to as the syndromic forms of PHPT. They mainly occur in the form of complex disorders and are inherited in the form of autosomal dominant traits. The second learning outcome is that the MEN 1 syndrome features a combined occurrence of tumors that involve the pancreatic islets, parathyroid, and the anterior pituitary. The third learning result in the article is that the MEN 1-4 is inheritable, and its effects can be mitigated at their onset, more preferably during childhood. If this is not done in time, its effects can lead to severe health effects later in life, making it difficult to treat and an increment in costs. As a result, the poor members of the society will find it difficult to cater for the increasing medical costs and are therefore advised to take cancer-screening tests early in life.

Bibliography

Bilezikian, John P., Robert Marcus, and Michael A. Levine. The Parathyroids: Basic and Clinical Concepts. San Diego, CA: Academic Press, 2012.

Brandi, Maria Luisa, Robert F. Gagel, Alberto Angeli, John P. Bilezikian, Paolo Beck-Peccoz, Cesare Bordi, Bernard Conte-Devolx et al. "Consensus: guidelines for diagnosis and therapy of MEN type 1 and type 2." The Journal of Clinical Endocrinology & Metabolism 86, no. 12 (2001): 5658-5671.

Gill, Anthony J., Adele Clarkson, Oliver Gimm, Juliane Keil, Henning Dralle, Viive M. Howell, and Deborah J. Marsh. "Loss of nuclear expression of parafibromin distinguishes parathyroid carcinomas and hyperparathyroidism-jaw tumor (HPT-JT) syndrome-related adenomas from sporadic parathyroid adenomas and hyperplasias." The American journal of surgical pathology 30, no. 9 (2006): 1140-1149.

Rajesh, Thakker V. "Multiple Endocrine Neoplasia Type 1 (MEN1) and Type 4 (MEN4)." PubMed Central (PMC) U.S. Department of Health & Human Services. Last modified 2014. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4082531/.

Thakker, R. V. "Genetics of parathyroid tumors." Journal of Internal Medicine (2016).

U.S National Library of Medicine. "Multiple Endocrine Neoplasia." Genetics Home Reference. Last modified 2016. https://ghr.nlm.nih.gov/condition/multiple-endocrine-neoplasia#inheritance.