- Diet
- Cancer
- Colorectal Cancer
- Prostate Cancer
- Breast Cancer
- Adenoid Cystic Carcinoma
- Amyloidosis
- Anal Cancer
- Appendix Cancer
- Astrocytoma - Childhood
- Ataxia-Telangiectasia
- Beckwith-Wiedemann Syndrome
- Bile Duct Cancer (Cholangiocarcinoma)
- Birt-Hogg-Dubé Syndrome
- Bladder Cancer
- Bone Cancer (Sarcoma of Bone)
- Brain Stem Glioma - Childhood
- Brain Tumor
- Breast Cancer - Inflammatory
- Breast Cancer - Metastatic
- Breast Cancer - Male
- Carney Complex
- Central Nervous System Tumors (Brain and Spinal Cord) - Childhood
- Cervical Cancer
- Childhood Cancer
- Cowden Syndrome
- Craniopharyngioma - Childhood
- Desmoid Tumor
- Desmoplastic Infantile Ganglioglioma, Childhood Tumor
- Ependymoma - Childhood
- Esophageal Cancer
- Ewing Sarcoma - Childhood and Adolescence
- Eye Melanoma
- Eyelid Cancer
- Familial Adenomatous Polyposis
- Familial GIST
- Familial Malignant Melanoma
- Familial Pancreatic Cancer
- Gallbladder Cancer
- Gastrointestinal Stromal Tumor - GIST
- Germ Cell Tumor - Childhood
- Gestational Trophoblastic Disease
- Head and Neck Cancer
- Hereditary Breast and Ovarian Cancer
- Hereditary Diffuse Gastric Cancer
- Hereditary Leiomyomatosis and Renal Cell Cancer
- Hereditary Mixed Polyposis Syndrome
- Hereditary Pancreatitis
- Hereditary Papillary Renal Carcinoma
- HIV/AIDS-Related Cancer
- Juvenile Polyposis Syndrome
- Kidney Cancer
- Laryngeal and Hypopharyngeal Cancer
- Leukemia - Acute Lymphoblastic - ALL - Childhood
- Leukemia - Acute Lymphocytic - ALL
- Leukemia - Acute Myeloid - AML
- Leukemia - Acute Myeloid - AML - Childhood
- Leukemia - B-cell Prolymphocytic Leukemia and Hairy Cell Leukemia
- Leukemia - Chronic Lymphocytic - CLL
- Leukemia - Chronic Myeloid - CML
- Leukemia - Chronic T-Cell Lymphocytic
- Leukemia - Eosinophilic
- Li-Fraumeni Syndrome
- Liver Cancer
- Lung Cancer - Non-Small Cell
- Lung Cancer - Small Cell
- Lymphoma - Hodgkin
- Lymphoma - Hodgkin - Childhood
- Lynch Syndrome
- Lymphoma - Non-Hodgkin - Childhood
- Lymphoma - Non-Hodgkin
- Mastocytosis
- Medulloblastoma - Childhood
- Melanoma
- Meningioma
- Mesothelioma
- Multiple Endocrine Neoplasia Type 1
- Multiple Endocrine Neoplasia Type 2
- Multiple Myeloma
- MUTYH (or MYH)-Associated Polyposis
- Myelodysplastic Syndromes - MDS
- Nasal Cavity and Paranasal Sinus Cancer
- Nasopharyngeal Cancer
- Neuroblastoma - Childhood
- Neuroendocrine Tumor of the Gastrointestinal Tract
- Neuroendocrine Tumor of the Lung
- Neuroendocrine Tumor of the Pancreas
- Neuroendocrine Tumors
- Neurofibromatosis Type 1
- Neurofibromatosis Type 2
- Nevoid Basal Cell Carcinoma Syndrome
- Oral and Oropharyngeal Cancer
- Osteosarcoma - Childhood and Adolescence
- Ovarian, Fallopian Tube, and Peritoneal Cancer
- Pancreatic Cancer
- Parathyroid Cancer
- Penile Cancer
- Peutz-Jeghers Syndrome
- Pheochromocytoma and Paraganglioma
- Pituitary Gland Tumor
- Pleuropulmonary Blastoma - Childhood
- Retinoblastoma - Childhood
- Rhabdomyosarcoma - Childhood
- Salivary Gland Cancer
- Sarcoma - Kaposi
- Sarcomas, Soft Tissue
- Skin Cancer (Non-Melanoma)
- Small Bowel Cancer
- Stomach Cancer
- Testicular Cancer
- Thymoma and Thymic Carcinoma
- Thyroid Cancer
- Tuberous Sclerosis Complex
- Unknown Primary
- Uterine Cancer
- Vaginal Cancer
- Von Hippel-Lindau Syndrome
- Vulvar Cancer
- Waldenstrom Macroglobulinemia (Lymphoplasmacytic Lymphoma)
- Werner Syndrome
- Wilms Tumor - Childhood
- Xeroderma Pigmentosum
- Veterans with Cancer
- Insurance and Cancer
- Prayers for Cancer Healing
- Prayers for Cancer Survival
- Pharmacology - Cancer Oncology drugs
- Natural Cures for Cancer
- Cancer Causing Foods
- Cancer Fighting Foods
- Kaposi Sarcoma
- Nausea and Vomiting in Cancer
- Adrenocortical Carcinoma
- Adolescents and Young Adults with Cancer
- Basal Cell Carcinoma of the Skin
- Burkitt Lymphoma
- Pancreatic Cancer
- Pain Management in Cancer
- CBD and Cancer Patients
- Cancer Treatment
- Stoma Bag
- Cancer Bra
- Cancer Wigs
- Lymphedema and Cancer
- Ductal Carcinoma In Situ (DCIS)
- Mouth Cancer
- Pregnancy and Breast Cancer
- Endometrial Cancer
- Heart Tumors, Childhood
- Merkel Cell Carcinoma
- Urethral Cancer
- Cancer in Young Adults
- Exercise and Cancer
- Insurance Denial and Cancer
- Bronchial Tumors
- Colostomy and Cancer
- Tube Feeding and Cancer
- Chronic Myeloproliferative Neoplasms
- Pulmonary Inflammatory Myofibroblastic Tumor
- Cutaneous T-Cell Lymphoma
- Fallopian Tube Cancer
- Breast Prostheses after Mastectomy
- Vascular Tumors
- Urethral cancer
- Music
“SM is a Great Pretender”: Diagnosing Systemic Mastocytosis
Brenton Mar, MD, PhD, Senior Medical Director at Blueprint Medicines, gives an overview of systemic mastocytosis (SM) and advanced SM.
SM is a rare, hematologic disorder most often caused by a mutation in the KIT D816V gene. The disorder is characterized by uncontrolled mast cell proliferation and activation across multiple organ systems, resulting in chronic, severe, and often unpredictable symptoms and extensive organ damage. A minority of SM patients have advanced SM, which encompasses a group of high-risk SM subtypes including aggressive systemic mastocytosis (ASM), systemic mastocytosis with an associated hematological neoplasm (SM-AHN), and mast cell leukemia (MCL).
As Dr. Mar explains, the diagnostic journey for SM patients is often long, especially for those who do not have an advanced form of the disease for which diagnosis can take 7 years. Even in advanced SM, diagnosis can take up to 2 years. Since advanced SM is often life-threatening, non-diagnosis can be fatal.
SM-AHN is the most common form of advanced SM which means advanced SM patients often have another hematologic disorder. As Dr. Mar explains, this can lead to problems when trying to diagnose these patients because the symptoms of the associated hematologic neoplasm may mask the signs of SM.
Finally, Dr. Mar describes signs of SM that physicians can look out for. Urticaria pigmentosa is the most common symptom though severe weight loss and refractory ascites may also suggest SM. Additionally, with the advent of next-generation sequencing, a mutation in the KIT D816V gene may also indicate SM.
To learn more about SM and other rare hematologic disorders, visit checkrare.com/diseases/hematologic-disorders/
SORT BY-
Top Comments
-
Latest comments