Multiple endocrine neoplasia

Multiple endocrine neoplasia 

Updated: 01/25/2023

© Jun Wang, MD, PhD

General features
  • Heterogeneous group of disorders
  • Benign or malignant tumors involving at least two endocrine organs
  • Major forms include type I, II, IV, based on genes involved and clinical presentations
MEN 1
  • Wermer syndrome
  • Autosomal dominant, loss of function mutation of MEN 1
  • Tumors of Parathyroid glands, the enteroPancreatic endocrine cells, the anterior Pituitary gland, and the skin
  • Most common: Parathyroid tumors
  • Also common: Functional islet tumors (gastrinomas and insulinomas) and pituitary tumors (Prolactinomas)
  • Skin tumors: Multiple angiofibromas, collagenomas and lipomas
  • Usually develop endocrine tumors before 20
  • Diagnosed by clinical presentation and molecular testing for MEN 1 mutation
  • Management: Surgery, consultation with endocrinologist
MEN 2
  • Gain of function mutation of RET proto-oncogene
  • Thyroid medullary carcinoma and pheochromocytoma
  • May have parathyroid manifestation
  • Three types, all have higher risk for medullary thyroid CA
MEN 2A: Pheochromocytoma, parathyroid neoplasm
Familial medullary thyroid carcinoma
MEN 2B: Pheochromocytoma, mucosal neuromas, ganglioneuromatosis of the gastrointestinal tract, a ‘marfanoid’ habitus, but much less commonly parathyroid neoplasm
  • Diagnosed by clinical presentation and molecular testing for RET
  • Managements: Surgery, chemo and radiation therapy for tumors, surveillance for serum calcitonin level
Practice questions

Back to syndromes
Back to contents

Comments

Post a Comment

Popular posts from this blog

Contents

Pathology notes Jun Wang, MD, PhD 1. General information Frequently discussed syndromes Terms of dermatology Terms of hematology 2. Primary immunodeficiency disorders 3. Hemodynamic abnormalities Shock Thrombosis and embolism Bleeding disorders 4.  Benign blood cell disorders Anemia Benign white cell disorders 5. Hematopoietic neoplasms Lymphoid neoplasms Myeloid neoplasms Histiocytic neoplasms: Langerhans cell histiocytosis 6. Cardiovascular system Pulmonary hypertension Cardiovascular system tumors 7. Respiratory tract tumors 8. Gastrointestinal tract Congenital disorders Infectious gastroenteritis Oral cavity Esophagus Stomach Intestinal tumors Salivary glands Exocrine pancreas and gallbladder 9. Urinary system Kidney masses Lower urinary tract 10. Male reproductive system 11. Female genital tract 12. Breast 13. Endocrine organs Pituitary gland Adrenal gland Thyroid gland Parathyroid gland Endocrine pancreas M
Read more

Anemia

Anemia Updated: 07/13/2024 © Jun Wang, MD, PhD   General features Decrease in red cell mass Hemoglobin: Levels of hemoglobin in a specific volume of whole blood Hematocrit: Fraction of whole blood composed of red blood cells Red cell count: Quantity of red cell in a specific volume of whole blood Three major groups based on RBC sizes Microcytic Normocytic Macrocytic Three major causes Blood loss: acute or chronic Increased red cell destruction: hemolysis Reduced production: marrow failure due to genetic abnormality or nutritional deficiency Etiology Genetic abnormality Hemoglobinopathies RBC cytoskeletal abomorlities Enzyme abnormalities Fanconi anemia Nutritional deficiencies: iron, VB12, folate, general malnutrition Physical etiologies: trauma, burns, frostbite, prosthetic valves, etc Chronic diseases: chronic infections, neoplasia, autoimmune disorders, kidney or liver diseases, etc Infectious diseases: hepatitis, sepsis , malaria, etc
Read more

Myeloid neoplasms

Myeloid neoplasms Updated: 08/12/2024 © Jun Wang, MD, PhD General features Clonal diseases of hematopoietic stem or progenitor cells of the granulocytic (neutrophil, eosinophil, basophil), monocytic/macrophage, erythroid, megakaryocytic and mast cell lineages 8 large groups Acute myeloid leukemia (AML) Myelodysplastic syndrome (MDS) Myeloproliferative neoplasms (MPN) Myelodysplastic and myeloproliferative neoplasm(MDS/MPN) Mastocytosis Secondary myeloid neoplasms Myeloid/lymphoid neoplasms with eosinophilia and tyrosine kinase gene fusions Acute leukemias of mixed or ambiguous lineage Diagnostic approaches CBC and differential: Presence of blasts and immature cells, quantity based diagnosis Bone marrow aspiration and biopsy: Morphology and quantity of neoplastic cells and blasts component Immunophenotyping: Multiparameter flow cytometry Histochemical studies: Myeloperoxidase for myeloid Cytogenetics studies: Karyotype, FISH  Molecular studies Labora
Read more