scholarly journals Surgical treatment of a patient with multiple endocrine neoplasia type 2A

2020 ◽  
Vol 179 (4) ◽  
pp. 79-86
Author(s):  
T. A. Britvin ◽  
E. V. Bondarenko ◽  
A. V. Krivosheev ◽  
O. A. Nechaeva ◽  
T. S. Tamazyan ◽  
...  
Keyword(s):  
Surgical Treatment ◽  
Multiple Endocrine Neoplasia ◽  
Multiple Endocrine Neoplasia Type ◽  
Clinical Laboratory ◽  
Histopathological Examination ◽  
Endocrine Neoplasia ◽  
Endocrine Neoplasia Type ◽  
Comprehensive Examination ◽  
Abdominal Ct Scan ◽  
High Level

The diagnosis and treatment of multiple endocrine neoplasia type 2A syndrome or Sipple’s syndrome, as well as other endocrine hereditary syndromes, presents certain difficulties for several reasons. One of them is the rarity of this pathology and, as a result, the lack of awareness of physicians. In addition, the diagnosis requires a comprehensive examination and a high level of clinical, laboratory, radiation and morphological diagnostics. And finally, surgical treatment, which is essentially the only method, involves an individual approach to each patient. We present the clinical case of Sipple's syndrome in a 39-year-old man. The diagnosis was carried out of medical history, clinical examination, laboratory tests (24-hour urine excretion of metanephrines and normetanephrines; serum calcium, calcitonin and parathyroid hormone levels), neck ultrasound and abdominal CT scan and was confirmed by histopathological examination and genetic testing for RET mutation. The achievement of the endpoint in the form of normalization of blood pressure and the absence of adrenal insufficiency was due to radical surgical treatment.

Molecular diagnosis and treatment of multiple endocrine neoplasia type 2B in Ethnic Han Chinese

2020 ◽  
Vol 20 ◽  
Author(s):  
Zhe-Wei Zhang ◽  
Xiao Guo ◽  
Xiao-Ping Qi
Keyword(s):  
Multiple Endocrine Neoplasia ◽  
Multiple Endocrine Neoplasia Type ◽  
Histopathological Examination ◽  
Diagnosis And Treatment ◽  
De Novo Mutation ◽  
Neck Lymph Node ◽  
Serum Calcitonin ◽  
Endocrine Neoplasia ◽  
Endocrine Neoplasia Type ◽  
Men 2B

Background: Multiple endocrine neoplasia type 2B (MEN 2B) is mainly caused by M918T RET germline mutation, and characterized by medullary thyroid carcinoma (MTC), pheochromocytoma (PHEO) and non-endocrine features. However, the diagnosis and treatment are usually delayed. Materials & Methods: This study reports 5 Chinese pedigrees with 5 individuals harboring germline RET-M918T, and systematically reviewed previous Chinese literatures. Results: All 5 patients initially presented MTC, but none had biochemically cured postoperatively. 2 also presented bilateral PHEO after adrenal-sparing surgery, 1 needed steroid replacement. Further, totally 32 MEN 2B patients from literatures were clustered with 28 available for analysis. 26 (92.8%) were diagnosed by endocrine-related symptoms; the remaining 2 (7.2%) due to RET testing and oral symptoms respectively. 25 patients underwent thyroidectomy with/without neck lymph node dissection at mean age of (23.3 ± 10.4) years. Histopathological examination revealed MTC (100%). Of them, 17 had definite TNM stage, with 1 in stage Ⅲ and others in Ⅳ. Other information of MEN 2B-related symptoms included penetrance of PHEO (60.7%), constipation (32.1%), Hirschsprung disease (25%), alacrima (17.8%), mucosal ganglioneuroma (96.4%) and marfanoid habitus (71.4%). 19 patients were verified harboring RET-M918T (c.2753T>C), of whom 15 (78.9%) were de novo mutation. The other 9 were clinically diagnosed as MEN 2B. Discussion & Conclusion : The initial diagnosis of MEN 2B is relatively later, and diagnosed by non-endocrine components is extremely lower. Recognition of MEN 2B and its non-endocrine-related components is still the utmost requirement for a Chinese physician. Combined RET screening and serum calcitonin detection can facilitate early diagnosis.

scholarly journals Isolated intestinal ganglioneuromatosis - A rare entity

2017 ◽  
Vol 5 (4) ◽  
pp. 131-135 ◽  
Author(s):  
Uttam Laudari ◽  
Shail Rupakheti ◽  
Tanka Prasad Bohara ◽  
Mukunda Raj Joshi ◽  
Mamta Lakhey
Keyword(s):  
Multiple Endocrine Neoplasia ◽  
Multiple Endocrine Neoplasia Type ◽  
Histopathological Examination ◽  
Neurofibromatosis Type ◽  
Type I ◽  
Endocrine Neoplasia ◽  
Endocrine Neoplasia Type ◽  
Benign Tumours ◽  
Rare Benign Tumour ◽  
Intestinal Ganglioneuromatosis

Intestinal ganglioneuromatosis are rare benign tumour of ganglionic cell origin, most of them associated with neurofi bromatosis type I and multiple endocrine neoplasia type IIB. They are benign tumours with rare malignant transformation, have a varied clinical presentation and long indolent course. Surgical resection is the only modality of treatment and diagnosis is based on histopathological examination and immunohistochemistry. We report a case, 55 year old male who was diagnosed as a case of isolated intestinal ganglioneuromatosis, i.e no association with neurofibromatosis type I and multiple endocrine neoplasia type IIB. He is on regular follow up with normal daily activities and no evidence of recurrence.Journal of Kathmandu Medical College, Vol. 5, No. 4, Issue 18, Oct.-Dec., 2016, Page: 131-135

Multiple Endocrine Neoplasia Type 2b Associated Mixed Medullary and Follicular Thyroid Carcinoma in A Chinese Patient with RET M918T Germline Mutation

2020 ◽  
Vol 20 ◽  
Author(s):  
Xiao-Ping Qi ◽  
Guo-Bing Lin ◽  
Bo Chen ◽  
Feng Li ◽  
Zhi-Lie Cao ◽  
...  
Keyword(s):  
Thyroid Carcinoma ◽  
Multiple Endocrine Neoplasia ◽  
Multiple Endocrine Neoplasia Type ◽  
Follicular Thyroid Carcinoma ◽  
Histopathological Examination ◽  
Follicular Carcinoma ◽  
Chinese Patient ◽  
Biological Behavior ◽  
Endocrine Neoplasia ◽  
Endocrine Neoplasia Type

Background: Mixed medullary and follicular thyroid carcinoma (MMFC) displays heterogeneous morphological components and immunophenotypical features intermingled within the same lesion, which is rare and most described in the sporadic form. We report herein a Chinese patient with multiple endocrine neoplasia type 2B (MEN2B) harboring germline RET M918T and associated MMFC. Method: A case of a 39-year-old male patient with MEN2B presented palpable neck masses in both thyroid lobes (maximum sizes: left, 3.9 cm; right, 5.4 cm) and a definitive phenotype. Serum levels of calcitonin (Ctn; 719.27ng/mL), carcinoembryonic antigen (CEA; > 2000pg/ml), and thyroglobulin (Tg; 98.54ng/mL) were high. Fine-needle aspiration cytology showed features positive for malignancy, suggesting the possibility of medullary thyroid carcinoma (MTC). Total thyroidectomy along with extending bilateral neck lymph nodes dissection, and subsequently, genetics family screening were performed. Results: The histopathological examination yielded a diagnosis of MMFC that showed immunohistochemical characteristic patterns of the component of MTC positive for Ctn and CEA, chromogranin A, and the follicular carcinoma components were positive for Tg. Lymph node metastasis was observed showing medullary tumoral cells positive for Ctn and follicular-like structures lacking tumor cells positive for Tg staining (T4bN1bM0). Genetics screening confirmed RET M918T (c.2753T>C) mutation manifested in the patient, but was not detected in other family members. Follow up showed that the serum Ctn, CEA and Tg levels respectively dropped to 54.38pg/ml, 4.16ng/mL and 0.04ng/mL 16 months after the surgery. Conclusion: Particular and diverse patterns of MMFC should be recognized with immunostaining features. MMFC occurring in a patient with MEN2B harboring RET M918T may be unique biological behavior and the treatment is mostly radical surgery.

Evolution of Surgical Treatment of Primary Hyperparathyroidism in Patients with Multiple Endocrine Neoplasia Type 2A

2011 ◽  
Vol 17 (1) ◽  
pp. 7-15 ◽  
Author(s):  
Anouk Scholten ◽  
Jennifer Schreinemakers ◽  
Carolina Pieterman ◽  
Gerlof Valk ◽  
Menno Vriens ◽  
...  
Keyword(s):  
Surgical Treatment ◽  
Primary Hyperparathyroidism ◽  
Multiple Endocrine Neoplasia ◽  
Multiple Endocrine Neoplasia Type ◽  
Endocrine Neoplasia ◽  
Endocrine Neoplasia Type
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