BACKGROUNDMultiple endocrine neoplasia (MEN) is relatively rare. But more patients could be found by detailed examination. We discuss the diagnosis and surgical treatment of MEN.

METHODSThe clinical data of 95 MEN cases were retrospectively analyzed. There were 30 cases of MEN1 including 19 cases from 6 families. The MEN1 gene mutation was detected in 81.48% of cases admitted after 1997. There were 22 cases of primary hyperparathyroidism (PHPT), 10 cases of enteropanceatic tumor including 9 cases of insulinoma, 15 cases of pituitary adenoma, 9 cases of adrenal adenoma, 2 cases of thymic carcinoid. Two patients had 4 glands involved, 3 patients had 3 glands involved, 16 patients had 2 glands involved, and 6 patients had only one gland involved. Three patients had neither clinical symptoms nor biochemical changes, and was diagnosed by MEN1 gene mutation. Six patients presented with nephrolithasis and 6 patients had impaired pancreatic endocrine function. There were 60 cases of MEN2a and 5 cases of MEN2b. 58 cases of MEN2a belongs to 19 kindreds. All MEN2a patients but one presented RET gene mutation in codon 634, and all MEN2b cases had mutation in codon 918. 48 cases of MEN2a had thyroid masses with elevated calcitonin levels. 27 patients had pheochromocytoma including 12 cases of multiple foci and 5 malignancy. 13 patients presented with hyperparathyroidism. 5 MEN2b patients had medullary thyroid carcinoma and mucosal ganglioneuromatosis with Marfanoid. Among them, 3 patients had bilateral pheochromocytoma.

RESULTSIn MEN1, subtotal parathyroidectomy was performed in 12 patients with PHPT and one patient received parathyroid adenoma enucleation. Insulinomas were enucleated in 4 patients. Two patients underwent thymus tumor extirpation. Total thyroidectomy with bilateral dissection of regional lymph nodes was performed in 16 patients with MEN2a and nodule enucleation was performed in 9 patients. Twenty two MEN2a patients underwent pheochromocytoma enucleation including bilateral adrenal resection in 10 cases. 5 MEN2b patients underwent total thyroidectomy with bilateral lymph node dissection. Among them, 3 cases underwent bilateral adrenal operations.

CONCLUSIONSMEN varies in symptoms. Germline mutation test is helpful in establishing a diagnosis. Surgical management should be aimed at the improvement of life quality in MEN1 and prevention of the fetal tumors in MEN2.

Adolescent ; Adult ; Aged ; Child ; Codon ; Female ; Humans ; Male ; Middle Aged ; Multiple Endocrine Neoplasia ; complications ; diagnosis ; genetics ; surgery ; Mutation ; Proto-Oncogene Proteins ; genetics ; Proto-Oncogene Proteins c-ret ; genetics

OBJECTIVETo investigate the expression of cytokeratins and ret in thyroid papillary carcinoma (TPC) and their diagnostic value.

METHODSDuring the period of October 1999 to March 2002, 69 cases of TPC (42 cases with adjacent normal thyroid tissue) and 14 cases of nodular goiter with papillary hyperplasia were enrolled into the study. Immunohistochemistry for CK19, CK17, CK8, CK20 and ret was performed in all cases using EnVision and LSAB methods respectively.

RESULTSThe positive rates for CK19 and ret in TPCs were 85.5% and 68.1% respectively, which were significantly (P < 0.01) higher than those in nodular goiter and normal thyroid tissue (25.0% and 5.4% respectively). The expression of CK17 was also observed in a few cases of TPCs (11/69, 15.9%), which was mainly localized in areas of squamous metaplasia, poorly differentiated carcinoma and/or in the small infiltrative foci. The positive rates for CK8 were 75.4% and 26.8% in TPCs and benign thyroid tissue respectively. All cases were negative for CK20.

CONCLUSIONSCK19, CK17 and ret expressions are significantly higher in TPCs than benign thyroid tissue; and this characteristic can have important diagnostic value.

Carcinoma, Papillary ; metabolism ; pathology ; Humans ; Immunohistochemistry ; Keratins ; analysis ; biosynthesis ; Proto-Oncogene Proteins ; biosynthesis ; Proto-Oncogene Proteins c-ret ; Receptor Protein-Tyrosine Kinases ; biosynthesis ; Thyroid Neoplasms ; metabolism ; pathology

Child ; Female ; Head and Neck Neoplasms ; Humans ; Multiple Endocrine Neoplasia Type 2b ; Proto-Oncogene Proteins c-ret ; genetics

OBJECTIVE: To investigate the distribution of Ret-He and RBC in thalassemia and the value of combining HbA2 in the detection of thalassemia among patients with microcytic or hypochromic. METHODS: 145 patients with microcytic or hypochromic outpatient or hospitalization in our hospital from May 2018 to December 2019 were selected and were divided into the thalassemia group(68 cases) and the non-thalassemia group (77 cases), and at the same time, the patients were divided into four groups of the non-anemia, mild anemia, moderate anemia and severe anemia group according to the degree of anemia. The Ret-He, RBC, RDW-CV and HbA2 in patients were detected, and the distribution of these parameters were compared, and the joint detection of Ret-He, RBC and HbA2 about its sensitivity, specific and other indicators of auxiliary diagnosis of thalassemia were analyzed. RESULTS: Among patients with microcytic or hypochromic, according to the anemia grade Ret-He gradually decreased from the non-anemia group to the severe anemia group (P<0.05); while RDW-CV was increased gradually from the mild anemia group to the severe anemia group (P<0.05); both RBC and Ret-He were increased in the thalassemia group as compared with the non- thalassemia group (P<0.05); while RDW-CV was decreased in the thalassemia group as compared with the non-thalassemia group (P<0.05); meanwhile Ret-He in the α-thalassemia group was higher than that in the β-thalassemia group. ROC curve analysis showed that combined with HbA2, the specificity was 93.51%, the sensitivity was 66.18%, the positive predictive value was 90% and the negative predictive value was 75.189% when Ret-He was truncated with 19.25 pg and RBC was truncated with 4.95×10 CONCLUSION Among patients with microcytic or hypochromic, the distribution of RBC, Ret-He and RDW-CV was different in the thalassemia group and the non-thalassemia group, and was also affected by the degree of anemia. Combined Ret-He and RBC could improve the diagnostic specificity for thalassemia, which were screened by HbA2 in patients with microcytic or hypochromic.
Anemia, Iron-Deficiency ; Erythrocyte Indices ; Humans ; Proto-Oncogene Proteins c-ret ; ROC Curve ; alpha-Thalassemia ; beta-Thalassemia/diagnosis*

Adolescent ; Humans ; Male ; Multiple Endocrine Neoplasia Type 2b ; genetics ; Oncogene Proteins ; genetics ; Point Mutation ; Proto-Oncogene Proteins c-ret ; Receptor Protein-Tyrosine Kinases ; genetics

Carcinoma, Non-Small-Cell Lung/genetics* ; China ; Consensus ; Humans ; Lung Neoplasms/genetics* ; Oncogene Proteins, Fusion/genetics* ; Proto-Oncogene Proteins c-ret/genetics*

Many cases of RET proto-oncogene mutations of hereditary medullary thyroid carcinoma (MTC) have been reported in Korea. However, MTC with V804M RET proto-oncogene germline mutations have not been reported in Korea. A 33-yr-old man was diagnosed with a 0.7-cm sized thyroid nodule. Laboratory testing revealed serum calcitonin was elevated. The patient underwent total thyroidectomy with central compartment neck dissection for the thyroid tumor. RET gene analysis was performed in both the index patient and his family. There were no V804M RET mutation and abnormal laboratory findings within his family except the index patient. Therefore, this patient was a de novo V804M RET germline mutation.
Adult ; Calcitonin/blood ; Germ-Line Mutation ; Humans ; Male ; Pedigree ; Proto-Oncogene Proteins c-ret/*genetics ; Sequence Analysis, DNA ; Thyroid Neoplasms/*diagnosis/genetics/ultrasonography ; Thyroidectomy

Multiple Endocrine Neoplasia Type 2 (MEN2) is a rare hereditary complex disorder characterized by the presence of medullary thyroid carcinoma, pheochromocytoma, and other hyperplasias or neoplasias of different endocrine tissues within a single patient. Simultaneous occurrence of MEN2 and other cancers that are derived from different origins is rare. In this report, we present a patient with known MEN2 who developed breast cancer as a result of invasive ductal carcinoma. The patient underwent total thyroidectomy and unilateral adrenalectomy due to medullary thyroid cancer and pheochromocytoma. Although patients with MEN2 may demonstrate a variety of neoplastic disorders, it is difficult to identify a case report of MEN2 with breast cancer. In addition, no etiological relationships between breast cancer and MEN2 have been reported to date. Thus, here we report a case of known MEN2 with breast cancer and present a review of the literature.
Adrenalectomy ; Breast ; Breast Neoplasms ; Carcinoma, Ductal ; Humans ; Hyperplasia ; Multiple Endocrine Neoplasia ; Multiple Endocrine Neoplasia Type 2a ; Pheochromocytoma ; Proto-Oncogene Proteins c-ret ; Thyroid Neoplasms ; Thyroidectomy

OBJECTIVETo identify the genotype of RET gene in one multiple endocrine neoplasia type 2A (MEN2A) kindred.

METHODSGenome DNA was extracted from peripheral blood leucocytes. The DNA sequence of gel-purified polymerase chain reaction (PCR) products was determined with the previously reported 6 pairs of primers of PCR amplification of 10, 11, 13, 14, 15, and 16 exons of RETgene.

RESULTSNo abnormalities were found in exon 10, 13, 14, 15, and 16. C to G replacement in nucleotide 14 996 of exon 11 was identified in DNA samples obtained from both peripheral blood of 2 affected brothers. This missense point mutation arisen in heterozygosity and caused a substitution of Cys to Trp residue at codon 634 ( Cys 634 Trp) in RET protein.

CONCLUSIONThe genotype of the family is identified as Cys 634 Trp substitution of RET gene.

Adult ; Exons ; genetics ; Female ; Humans ; Male ; Multiple Endocrine Neoplasia Type 2a ; genetics ; Pedigree ; Point Mutation ; Polymerase Chain Reaction ; Proto-Oncogene Proteins c-ret ; genetics

Base Sequence ; Carcinoma, Medullary ; genetics ; surgery ; Codon ; genetics ; Exons ; genetics ; Female ; Humans ; Middle Aged ; Mutation ; Proto-Oncogene Proteins c-ret ; genetics ; Thyroid Neoplasms ; genetics ; surgery ; Thyroidectomy