Junction: Systemic Mastocytosis

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Comorbidities Common in Patients With Advanced SM Prior to Diagnosis

Researchers reported that patients with newly diagnosed advanced systemic mastocytosis (SM) had high rates of comorbidities and healthcare service utilization prior to a confirmed diagnosis, according to a study published in Clinical Lymphoma, Myeloma & Leukemia. Advanced SM is a rare disorder caused by the KIT D816V mutation. It encompasses aggressive SM, mast cell leukemia,…

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Advanced SM Initially Presents With a Wide Range of Symptoms, Complicating Diagnosis

A new study has characterized the symptomatology of patients with advanced systemic mastocytosis (SM) as reported by oncologists at the first patient visit. The study, published in Clinical Lymphoma, Myeloma & Leukemia, found a wide range of symptoms, comorbid conditions, and diagnostic strategies for these patients. “Although driven by KIT D816V in 95% of cases,…

Mastocytosis

Avapritinib Shows Potential for Treating KIT-Negative Advanced SM

A 53-year-old male diagnosed with KIT-negative advanced systemic mastocytosis (SM) had his tryptase level decreased and his symptoms relieved after starting treatment with avapritinib (Ayvakit®). “In our patient, the starting dose was 200 mg daily, which led to a rapid decline of tryptase level, with symptomatic improvement within months at a reduced dose of 100…

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Droplet Digital PCR Might Be a Useful Alternative for Detecting SM

A new study assessed droplet digital polymerase chain reaction (ddPCR) as an alternative diagnostic tool to allele-specific oligonucleotide real-time quantitative PCR (ASO-qPCR) to detect the D816V KIT mutation in patients with suspected systemic mastocytosis (SM). The study, published in Clinical Lymphoma, Myeloma & Leukemia, found that ddPCR could reliably detect the mutation in a noninvasive…

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New Consensus Classification Published on Systemic Mastocytosis Types, Diagnosis

A new International Consensus Classification (ICC) has been published on myeloid neoplasms, including systemic mastocytosis (SM), and acute leukemia. The report, published in Blood, represents a major revision since the last update in 2016. “Using a multiparameter approach, the main objective of the consensus process was the definition of real disease entities, including the introduction…

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Case Study: Stem Cell Transplant Could Be a Therapeutic Option in Advanced SM

Researchers presented the case study of a patient with advanced systemic mastocytosis with associated eosinophilia who was treated with patient-specific induced pluripotent stem cells, according to a letter to the editor published in the Annals of Hematology. The case was that of a 45-year-old man diagnosed with mast cell leukemia in 2018 and was referred…

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Chronic Diarrhea and Hematopoietic Tumors Could Be Signs of Systemic Mastocytosis

Researchers from China presented the rare case of a patient with aggressive systemic mastocytosis with intestinal tract involvement whose disease was mimicking a blastic plasmacytoid dendritic cell neoplasm. The 44-year-old male patient had experienced abdominal discomfort for 4 years and diarrhea for 5 months. The researchers identified a protuberant lesion in his cecum with adjacent lymphadenopathy.…

neoplasm

A Rare Case: Mast Cell Sarcoma and SM With an Associated Hematological Neoplasm

Researchers reported a unique case of concurrent retroperitoneal mast cell sarcoma (MCS) and systemic mastocytosis (SM) with an undisclosed associated hematological neoplasm. The case report, published in Clinical Pathology, noted additional suspicion of a clonal myeloid neoplasm based on karyotype and hemogram data. “Mast cell sarcoma is an exceedingly rare variant of mastocytosis identified by…

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Midostaurin Leads to Improved Overall Survival in Mast Cell Leukemia Patients

A new study has determined that midostaurin is the most common therapy administered to treat mast cell leukemia (MCL), a rare subtype of systemic mastocytosis (SM), and that it leads to improved overall survival (OS) compared to other therapies. The study, published in Blood Advances, noted that the median OS in patients with MCL was…

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