Thymic Carcinoid as the First Manifestation of Multiple Endocrine Neoplasia Type 1 Syndrome: A Case Report and Review of the Literature.
Ann Clin Lab Sci
; 50(6): 825-833, 2020 Nov.
Article
en En
| MEDLINE
| ID: mdl-33334800
ABSTRACT
The present study reported a rare case with thymic carcinoid as the first manifestation of multiple endocrine neoplasia type 1 (MEN1) syndrome, which presented with gene mutations of the MEN1 and glucokinase regulatory protein (GCKR). In this report, a 40-year-old male was diagnosed as MEN1 syndrome with thymic carcinoid, pancreatic cancer, hyperparathyroidism, and insulinoma with intrahepatic metastasis. Genetic testing showed the mutations of the MEN1 (c.378 G>A, p. Trp126*) in the patient, his children and two sisters, and GCKR (c.151C>T, p. Arg51*) gene in the patient and his children. The pathological examination showed that neuroendocrine tumor (NET) of the pancreas was characterized as 6 mitoses per 10 high-power fields (HPF), infiltration of adipose tissue, no intravascular tumor thrombus and nerve infiltration. In addition, NET of the liver was characterized as 4 mitoses per 10 HPF, no intravascular tumor thrombus and nerve infiltration. Immunohistochemical staining showed Ckpan (+), Syn (+), CgA (+), CD 56 (+), PGP 9.5 (+), and Ki67-positive cells (8-10%) in NET. Therefore, we suggested that genetic testing in family members of MEN1 patient, which may be helpful for early diagnosis.
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Banco de datos:
MEDLINE
Asunto principal:
Tumor Carcinoide
/
Neoplasia Endocrina Múltiple Tipo 1
Tipo de estudio:
Diagnostic_studies
/
Screening_studies
Límite:
Adult
/
Humans
/
Male
Idioma:
En
Año:
2020
Tipo del documento:
Article