A Familial Case of Multiple Endocrine Neoplasia 2A: From Morphology to Genetic Alterations Penetration in Three Generations of a Family
This paper illustrates a rare syndrome of multiple endocrine neoplasia type 2A (MEN2A) in a family of three generations. In our case, the father, son and one daughter developed phaeochromocytoma (PHEO) and medullary thyroid carcinoma (MTC) over a period of 35 years. Because of the metachronous onset...
| Main Authors: | , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
MDPI AG
2023-03-01
|
| Series: | Diagnostics |
| Subjects: | |
| Online Access: | https://www.mdpi.com/2075-4418/13/5/955 |
| _version_ | 1797615491850698752 |
|---|---|
| author | Lan Chen Jing-Xin Zhang Dong-Ge Liu Hong-Gang Liu |
| author_facet | Lan Chen Jing-Xin Zhang Dong-Ge Liu Hong-Gang Liu |
| author_sort | Lan Chen |
| collection | DOAJ |
| description | This paper illustrates a rare syndrome of multiple endocrine neoplasia type 2A (MEN2A) in a family of three generations. In our case, the father, son and one daughter developed phaeochromocytoma (PHEO) and medullary thyroid carcinoma (MTC) over a period of 35 years. Because of the metachronous onset of the disease and lack of digital medical records in the past, the syndrome was not found until a recent fine needle aspiration of an MTC-metastasized lymph node from the son. All resected tumors from the family members were then reviewed and supplemented with immunohistochemical studies, previously wrong diagnoses were then corrected. Further molecular study of targeted sequencing also revealed a RET germline mutation (C634G) in the family tree including the three members with onset of the disease and one granddaughter who had no disease at the time of testing. Despite the syndrome being well-known, it may still be misdiagnosed because of its rarity and long disease onset. A few lessons can be learned from this unique case. Successful diagnosis requires high suspicion and surveillance and a tri-level methodology including a careful review of family history, pathology and genetic counselling. |
| first_indexed | 2024-03-11T07:27:07Z |
| format | Article |
| id | doaj.art-0183a21c46f04d22b526a4c7e1a02c36 |
| institution | Directory Open Access Journal |
| issn | 2075-4418 |
| language | English |
| last_indexed | 2024-03-11T07:27:07Z |
| publishDate | 2023-03-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Diagnostics |
| spelling | doaj.art-0183a21c46f04d22b526a4c7e1a02c362023-11-17T07:30:27ZengMDPI AGDiagnostics2075-44182023-03-0113595510.3390/diagnostics13050955A Familial Case of Multiple Endocrine Neoplasia 2A: From Morphology to Genetic Alterations Penetration in Three Generations of a FamilyLan Chen0Jing-Xin Zhang1Dong-Ge Liu2Hong-Gang Liu3Pathology Department, Beijing Hospital, National Center of Gerontology, Institute of Geriatric Medicine, Chinese Academy of Medical Sciences, Beijing 100730, ChinaPathology Department, Beijing Hospital, National Center of Gerontology, Institute of Geriatric Medicine, Chinese Academy of Medical Sciences, Beijing 100730, ChinaPathology Department, Beijing Hospital, National Center of Gerontology, Institute of Geriatric Medicine, Chinese Academy of Medical Sciences, Beijing 100730, ChinaPathology Department, Beijing Tongren Hospital, Capital Medical University, Beijing Key Laboratory of Head and Neck Molecular Diagnostic Pathology, Beijing 100730, ChinaThis paper illustrates a rare syndrome of multiple endocrine neoplasia type 2A (MEN2A) in a family of three generations. In our case, the father, son and one daughter developed phaeochromocytoma (PHEO) and medullary thyroid carcinoma (MTC) over a period of 35 years. Because of the metachronous onset of the disease and lack of digital medical records in the past, the syndrome was not found until a recent fine needle aspiration of an MTC-metastasized lymph node from the son. All resected tumors from the family members were then reviewed and supplemented with immunohistochemical studies, previously wrong diagnoses were then corrected. Further molecular study of targeted sequencing also revealed a RET germline mutation (C634G) in the family tree including the three members with onset of the disease and one granddaughter who had no disease at the time of testing. Despite the syndrome being well-known, it may still be misdiagnosed because of its rarity and long disease onset. A few lessons can be learned from this unique case. Successful diagnosis requires high suspicion and surveillance and a tri-level methodology including a careful review of family history, pathology and genetic counselling.https://www.mdpi.com/2075-4418/13/5/955medullary thyroid carcinomapheochromocytomamultiple endocrine neoplasia type 2ARET germline mutation |
| spellingShingle | Lan Chen Jing-Xin Zhang Dong-Ge Liu Hong-Gang Liu A Familial Case of Multiple Endocrine Neoplasia 2A: From Morphology to Genetic Alterations Penetration in Three Generations of a Family Diagnostics medullary thyroid carcinoma pheochromocytoma multiple endocrine neoplasia type 2A RET germline mutation |
| title | A Familial Case of Multiple Endocrine Neoplasia 2A: From Morphology to Genetic Alterations Penetration in Three Generations of a Family |
| title_full | A Familial Case of Multiple Endocrine Neoplasia 2A: From Morphology to Genetic Alterations Penetration in Three Generations of a Family |
| title_fullStr | A Familial Case of Multiple Endocrine Neoplasia 2A: From Morphology to Genetic Alterations Penetration in Three Generations of a Family |
| title_full_unstemmed | A Familial Case of Multiple Endocrine Neoplasia 2A: From Morphology to Genetic Alterations Penetration in Three Generations of a Family |
| title_short | A Familial Case of Multiple Endocrine Neoplasia 2A: From Morphology to Genetic Alterations Penetration in Three Generations of a Family |
| title_sort | familial case of multiple endocrine neoplasia 2a from morphology to genetic alterations penetration in three generations of a family |
| topic | medullary thyroid carcinoma pheochromocytoma multiple endocrine neoplasia type 2A RET germline mutation |
| url | https://www.mdpi.com/2075-4418/13/5/955 |
| work_keys_str_mv | AT lanchen afamilialcaseofmultipleendocrineneoplasia2afrommorphologytogeneticalterationspenetrationinthreegenerationsofafamily AT jingxinzhang afamilialcaseofmultipleendocrineneoplasia2afrommorphologytogeneticalterationspenetrationinthreegenerationsofafamily AT donggeliu afamilialcaseofmultipleendocrineneoplasia2afrommorphologytogeneticalterationspenetrationinthreegenerationsofafamily AT honggangliu afamilialcaseofmultipleendocrineneoplasia2afrommorphologytogeneticalterationspenetrationinthreegenerationsofafamily AT lanchen familialcaseofmultipleendocrineneoplasia2afrommorphologytogeneticalterationspenetrationinthreegenerationsofafamily AT jingxinzhang familialcaseofmultipleendocrineneoplasia2afrommorphologytogeneticalterationspenetrationinthreegenerationsofafamily AT donggeliu familialcaseofmultipleendocrineneoplasia2afrommorphologytogeneticalterationspenetrationinthreegenerationsofafamily AT honggangliu familialcaseofmultipleendocrineneoplasia2afrommorphologytogeneticalterationspenetrationinthreegenerationsofafamily |