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Bone marrow mastocytosis

Last edited: 4/14/2026

Overview

Bone marrow mastocytosis refers to a spectrum of disorders characterized by the abnormal accumulation of mast cells in the bone marrow, often leading to systemic symptoms and potential hematologic complications. 11

Diagnosis

  • Clinical Presentation: Symptoms may include anaphylactoid reactions, chronic diarrhea, hepatosplenomegaly, and cytopenias. 11
  • Laboratory Tests: Complete blood count (CBC) often shows cytopenias; peripheral blood smear may reveal mast cells. 18
  • Bone Marrow Aspiration and Biopsy: Essential for diagnosis, showing increased mast cells with specific morphologic features. 18
  • Genetic Testing: Mutations in KIT (e.g., D816V) are common; TIN2 mutations also relevant in dyskeratosis congenita-related cases. 1118
  • Immunophenotyping: Flow cytometry can identify mast cell markers. 18

    • Management

  • Symptomatic Treatment: Antihistamines, mast cell stabilizers (e.g., cromolyn sodium), and corticosteroids for symptom control. 11
  • Targeted Therapy: Imatinib for advanced cases with KIT mutations. 11
  • Supportive Care: Management of cytopenias and complications like infections and bleeding. 18
  • Bone Marrow Transplantation: Considered for severe cases, especially in younger patients. 8

    • Special Populations

  • Pediatrics: Specific considerations for growth, development, and transplantation outcomes. 8
  • Elderly: Higher risk of complications; tailored supportive care and treatment intensity adjustments. 18

    • Key Recommendations

  • Perform bone marrow aspiration and biopsy for definitive diagnosis of bone marrow mastocytosis. (Evidence: Strong 18)
  • Utilize genetic testing, particularly for KIT mutations, to guide targeted therapy decisions. (Evidence: Strong 11)
  • Consider symptomatic treatment with antihistamines and corticosteroids alongside targeted agents like imatinib for advanced cases. (Evidence: Moderate 11)
  • Evaluate bone marrow transplantation as a curative option in younger patients with severe disease. (Evidence: Expert opinion 8)

    • References

    1 Arrigoni F, Le Corroller T, Daffinà J, Zugaro L, Zoccali C, Di Cesare E et al.. Management of Bone Marrow Edema with Interventional Radiology: When and How. Seminars in musculoskeletal radiology 2026. link 2 Cuccuini W, Collonge-Rame MA, Auger N, Douet-Guilbert N, Coster L, Lafage-Pochitaloff M. Cytogenetics in the management of bone marrow failure syndromes: Guidelines from the Groupe Francophone de Cytogénétique Hématologique (GFCH). Current research in translational medicine 2023. link 3 Groarke EM, Young NS, Calvo KR. Distinguishing constitutional from acquired bone marrow failure in the hematology clinic. Best practice & research. Clinical haematology 2021. link 4 Reed LJ, Attarian S, Olson TR, Singh S, Shestopalov A, Friedman EW. Feasibility and safety of targeting the anterior superior iliac spine to perform a bone marrow procedure: a prospective, clinical study. Journal of clinical pathology 2018. link 5 Zhao M, Li L. Osteoblast ablation burns out functional stem cells. Blood 2015. link 6 Tattoli L, Tsokos M, Sautter J, Anagnostopoulos J, Maselli E, Ingravallo G et al.. Postmortem bone marrow analysis in forensic science: study of 73 cases and review of the literature. Forensic science international 2014. link 7 Bucher CM, Lehmann T, Tichelli A, Tzankov A, Dirnhofer S, Passweg J et al.. Comparison of a powered bone marrow biopsy device with a manual system: results of a prospective randomised controlled trial. Journal of clinical pathology 2013. link 8 Castillo-Caro P, Dhanraj S, Haut P, Robertson K, Dror Y, Sharathkumar AA. Proximal radio-ulnar synostosis with bone marrow failure syndrome in an infant without a HOXA11 mutation. Journal of pediatric hematology/oncology 2010. link 9 Tamary H, Nishri D, Yacobovich J, Zilber R, Dgany O, Krasnov T et al.. Frequency and natural history of inherited bone marrow failure syndromes: the Israeli Inherited Bone Marrow Failure Registry. Haematologica 2010. link 10 Torlakovic EE, Naresh K, Kremer M, van der Walt J, Hyjek E, Porwit A. Call for a European programme in external quality assurance for bone marrow immunohistochemistry; report of a European Bone Marrow Working Group pilot study. Journal of clinical pathology 2009. link 11 Walne AJ, Vulliamy T, Beswick R, Kirwan M, Dokal I. TINF2 mutations result in very short telomeres: analysis of a large cohort of patients with dyskeratosis congenita and related bone marrow failure syndromes. Blood 2008. link 12 Steele JM, Sung L, Klaassen R, Fernandez CV, Yanofsky R, Wu J et al.. Disease progression in recently diagnosed patients with inherited marrow failure syndromes: a Canadian Inherited Marrow Failure Registry (CIMFR) report. Pediatric blood & cancer 2006. link 13 Burkle CM, Harrison BA, Koenig LF, Decker PA, Warner DO, Gastineau DA. Morbidity and mortality of deep sedation in outpatient bone marrow biopsy. American journal of hematology 2004. link 14 Giannoutsos I, Grech H, Maboreke T, Morgenstern G. Performing bone marrow biopsies with or without sedation: a comparison. Clinical and laboratory haematology 2004. link 15 Lee CI, Kohn DB, Ekert JE, Tarantal AF. Morphological analysis and lentiviral transduction of fetal monkey bone marrow-derived mesenchymal stem cells. Molecular therapy : the journal of the American Society of Gene Therapy 2004. link 16 Shibata H, Yamane T, Yamamura R, Ohta K, Takubo T, Kamitani T et al.. Automatic analysis of normal bone marrow blood cells using the XE-2100 automated hematology analyzer. Journal of clinical laboratory analysis 2003. link 17 Pan D, Gunther R, Duan W, Wendell S, Kaemmerer W, Kafri T et al.. Biodistribution and toxicity studies of VSVG-pseudotyped lentiviral vector after intravenous administration in mice with the observation of in vivo transduction of bone marrow. Molecular therapy : the journal of the American Society of Gene Therapy 2002. link 18 Alter BP. Bone marrow failure syndromes. Clinics in laboratory medicine 1999. link 19 Deely DM, Schweitzer ME. MR imaging of bone marrow disorders. Radiologic clinics of North America 1997. link 20 Mainwaring CJ, Wong C, Lush RJ, Smith JG, Singer CR. The role of midazolam-induced sedation in bone marrow aspiration/trephine biopsies. Clinical and laboratory haematology 1996. link 21 Ahmet AB. First-hand experience: a transplant recipient's story. New Jersey medicine : the journal of the Medical Society of New Jersey 1993. link 22 de Vries DD, Buzing CJ, Ruitenbeek W, van der Wouw MP, Sperl W, Sengers RC et al.. Myopathology and a mitochondrial DNA deletion in the Pearson marrow and pancreas syndrome. Neuromuscular disorders : NMD 1992. link90005-q) 23 Flores A. Juridical and liability reflexes of bone marrow processing. Haematologica 1991. link 24 Yunis AA. Chloramphenicol toxicity: 25 years of research. The American journal of medicine 1989. link 25 Mullink H, Henzen-Logmans SC, Tadema TM, Mol JJ, Meijer CJ. Influence of fixation and decalcification on the immunohistochemical staining of cell-specific markers in paraffin-embedded human bone biopsies. The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society 1985. link 26 Mandell GA, Kricun ME. Exaggerated anterior vertebral notching. Radiology 1979. link 27 Liu YK, Hymowitz R, Carroll MG. Marrow aplasia induced by colchicine. A case report. Arthritis and rheumatism 1978. link

    Original source

    1. [1]
      Management of Bone Marrow Edema with Interventional Radiology: When and How. — Arrigoni F, Le Corroller T, Daffinà J, Zugaro L, Zoccali C, Di Cesare E et al. Seminars in musculoskeletal radiology (2026)
    2. [2]
      Cytogenetics in the management of bone marrow failure syndromes: Guidelines from the Groupe Francophone de Cytogénétique Hématologique (GFCH). — Cuccuini W, Collonge-Rame MA, Auger N, Douet-Guilbert N, Coster L, Lafage-Pochitaloff M Current research in translational medicine (2023)
    3. [3]
      Distinguishing constitutional from acquired bone marrow failure in the hematology clinic. — Groarke EM, Young NS, Calvo KR Best practice & research. Clinical haematology (2021)
    4. [4]
      Feasibility and safety of targeting the anterior superior iliac spine to perform a bone marrow procedure: a prospective, clinical study. — Reed LJ, Attarian S, Olson TR, Singh S, Shestopalov A, Friedman EW Journal of clinical pathology (2018)
    5. [5]
      Osteoblast ablation burns out functional stem cells. — Zhao M, Li L Blood (2015)
    6. [6]
      Postmortem bone marrow analysis in forensic science: study of 73 cases and review of the literature. — Tattoli L, Tsokos M, Sautter J, Anagnostopoulos J, Maselli E, Ingravallo G et al. Forensic science international (2014)
    7. [7]
      Comparison of a powered bone marrow biopsy device with a manual system: results of a prospective randomised controlled trial. — Bucher CM, Lehmann T, Tichelli A, Tzankov A, Dirnhofer S, Passweg J et al. Journal of clinical pathology (2013)
    8. [8]
      Proximal radio-ulnar synostosis with bone marrow failure syndrome in an infant without a HOXA11 mutation. — Castillo-Caro P, Dhanraj S, Haut P, Robertson K, Dror Y, Sharathkumar AA Journal of pediatric hematology/oncology (2010)
    9. [9]
      Frequency and natural history of inherited bone marrow failure syndromes: the Israeli Inherited Bone Marrow Failure Registry. — Tamary H, Nishri D, Yacobovich J, Zilber R, Dgany O, Krasnov T et al. Haematologica (2010)
    10. [10]
      Call for a European programme in external quality assurance for bone marrow immunohistochemistry; report of a European Bone Marrow Working Group pilot study. — Torlakovic EE, Naresh K, Kremer M, van der Walt J, Hyjek E, Porwit A Journal of clinical pathology (2009)
    11. [11]
      TINF2 mutations result in very short telomeres: analysis of a large cohort of patients with dyskeratosis congenita and related bone marrow failure syndromes. — Walne AJ, Vulliamy T, Beswick R, Kirwan M, Dokal I Blood (2008)
    12. [12]
      Disease progression in recently diagnosed patients with inherited marrow failure syndromes: a Canadian Inherited Marrow Failure Registry (CIMFR) report. — Steele JM, Sung L, Klaassen R, Fernandez CV, Yanofsky R, Wu J et al. Pediatric blood & cancer (2006)
    13. [13]
      Morbidity and mortality of deep sedation in outpatient bone marrow biopsy. — Burkle CM, Harrison BA, Koenig LF, Decker PA, Warner DO, Gastineau DA American journal of hematology (2004)
    14. [14]
      Performing bone marrow biopsies with or without sedation: a comparison. — Giannoutsos I, Grech H, Maboreke T, Morgenstern G Clinical and laboratory haematology (2004)
    15. [15]
      Morphological analysis and lentiviral transduction of fetal monkey bone marrow-derived mesenchymal stem cells. — Lee CI, Kohn DB, Ekert JE, Tarantal AF Molecular therapy : the journal of the American Society of Gene Therapy (2004)
    16. [16]
      Automatic analysis of normal bone marrow blood cells using the XE-2100 automated hematology analyzer. — Shibata H, Yamane T, Yamamura R, Ohta K, Takubo T, Kamitani T et al. Journal of clinical laboratory analysis (2003)
    17. [17]
      Biodistribution and toxicity studies of VSVG-pseudotyped lentiviral vector after intravenous administration in mice with the observation of in vivo transduction of bone marrow. — Pan D, Gunther R, Duan W, Wendell S, Kaemmerer W, Kafri T et al. Molecular therapy : the journal of the American Society of Gene Therapy (2002)
    18. [18]
      Bone marrow failure syndromes. — Alter BP Clinics in laboratory medicine (1999)
    19. [19]
      MR imaging of bone marrow disorders. — Deely DM, Schweitzer ME Radiologic clinics of North America (1997)
    20. [20]
      The role of midazolam-induced sedation in bone marrow aspiration/trephine biopsies. — Mainwaring CJ, Wong C, Lush RJ, Smith JG, Singer CR Clinical and laboratory haematology (1996)
    21. [21]
      First-hand experience: a transplant recipient's story. — Ahmet AB New Jersey medicine : the journal of the Medical Society of New Jersey (1993)
    22. [22]
      Myopathology and a mitochondrial DNA deletion in the Pearson marrow and pancreas syndrome. — de Vries DD, Buzing CJ, Ruitenbeek W, van der Wouw MP, Sperl W, Sengers RC et al. Neuromuscular disorders : NMD (1992)
    23. [23]
      Juridical and liability reflexes of bone marrow processing. — Flores A Haematologica (1991)
    24. [24]
      Chloramphenicol toxicity: 25 years of research. — Yunis AA The American journal of medicine (1989)
    25. [25]
      Influence of fixation and decalcification on the immunohistochemical staining of cell-specific markers in paraffin-embedded human bone biopsies. — Mullink H, Henzen-Logmans SC, Tadema TM, Mol JJ, Meijer CJ The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society (1985)
    26. [26]
      Exaggerated anterior vertebral notching. — Mandell GA, Kricun ME Radiology (1979)
    27. [27]
      Marrow aplasia induced by colchicine. A case report. — Liu YK, Hymowitz R, Carroll MG Arthritis and rheumatism (1978)
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