THE SYSTEMIC MASTOCYTOSIS: RADIOLOGICAL POINT OF VIEW Systemic mastocytosis
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Keywords
Systemic mastocytosis, Radiography, CT, Magnetic resonance imaging
Abstract
Radiological diagnosis of systemic mastocytosis (SM) can be hard to establish. This is mainly due to the variable radiological features involving many organ systems (e.g., respiratory, cardiovascular, lympho-reticular, digestive systems, and most commonly skin), and the broad spectrum of skeletal findings, in particular. Skeletal involvement is the most common and prominent imaging feature in patients with SM and represents a prognostic factor as it may entail an aggressive course of the disease. Diagnosis, which is largely established by histological evaluation of a bone marrow trephine biopsy specimen supplemented by imaging modalities such as radiography, CT, and magnetic resonance imaging, requires a team approach between the hematologist, radiologist, and pathologist. The general radiologist needs to be familiar with the imaging findings because they may be the first to suggest the correct diagnosis. The primary purposes of this article were to equip clinicians with pertinent radiological semiotics and present relevant radiological features that assist early diagnosis and selection of an effective treatment.
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References
1) Akin C, Metcalfe DD. Systemic mastocytosis. Annu Rev Med. 2004;55:419-432.
2) Travis WD, Li CY, Bergstralh EJ, Yam LT, Swee RG. Systemic mast cell disease. Analysis of 58 cases and literature review. Medicine (Baltimore) 1988;67:345-368.
3) Pardanani A, Akin C, Valent P. Pathogenesis, clinical features, and treatment advances in mastocytosis. Best Pract Res Clin Haematol 2006; 19:595-615.
4) Horny HP, Valent P. Diagnosis of mastocytosis: general histopathological aspects, morphological criteria, and immunohistochemical findings. Leuk Res. 2001;25(7):543-551.
5) Gülen T, Hägglund H, Dahlén B, Nilsson G. Mastocytosis: the puzzling clinical spectrum and challenging diagnostic aspects of an enigmatic disease. J Intern Med. 2016;279(3):211-228.
6) Ozturk K, Cayci Z, Gotlib J, Akin C, George TI, Ustun C. Non-hematologic diagnosis of systemic mastocytosis: Collaboration of radiology and pathology Blood Rev. 2021;45:100693.
7) Valent P, Akin C, Sperr WR, et al. Diagnosis and treatment of systemic mastocytosis: state of the art. Br J Haematol. 2003 Sep;122(5):695-717.
8) Di Leo C, Lodi A, Pozzato C, et al. Systemic mastocytosis: bone marrow involvement assessed by Tc-99m MDP scintigraphy and magnetic resonance imaging Haematologica. 2003 Jul;88(7):ECR26.
9) Orsolini G, Viapiana O, Rossini M, Bonifacio M, Zanotti R. Bone Disease in Mastocytosis. Immunol Allergy Clin North Am. 2018;38(3):443-454.
10) Degboé Y, Eischen M, Nigon D, et al. Prevalence and risk factors for fragility fracture in systemic mastocytosis. Bone. 2017;105:219-225.
11) Riffel P, Jawhar M, Gawlik K,et al. Magnetic resonance imaging reveals distinct bone marrow patterns in indolent and advanced systemic mastocytosis. Ann Hematol 2019;98(12):2693-2701.
12) Leone A, Criscuolo M, Gullì C, Petrosino A, Carlo Bianco N, Colosimo C. Systemic mastocytosis revisited with an emphasis on skeletal manifestations. Radiol Med. 2021;126(4):585-598.
13) Harzy T, El Hajjaji A. Osseous mastocytosis of the knee. Clin Rheumatol 2007;26(12):2171-2172.
14) Fritz J, Fishman EK, Carrino JA, Horger MS. Advanced imaging of skeletal manifestations of systemic mastocytosis. Skeletal Radiol 2012;41(8):887-897.
15) Vanhoenacker FM, De Beuckeleer LH, Van Hul W et al. Sclerosing bone dysplasias: genetic and radioclinical features. Eur Radiol 2000;10(9):1423-1433.
16) Barosi G, Hoffman R. Idiopathic myelofibrosis. Semin Hematol. 2005;42(4):248-258.
17) Barete S, Assous N, de Gennes C, et al. Systemic mastocytosis and bone involvement in a cohort of 75 patients. Ann Rheum Dis. 2010;69(10):1838-1841.
18) Rossini M, Zanotti R, Bonadonna P, et al. Bone mineral density, bone turnover markers and fractures in patients with indolent systemic mastocytosis. Bone. 2011;49(4):880-885.
19) van der Veer E, van der Goot W, de Monchy JG, Kluin-Nelemans HC, van Doormaal JJ. High prevalence of fractures and osteoporosis in patients with indolent systemic mastocytosis. Allergy 2012;67(3):431-438.
20) Barer M, Peterson OF, Dublin DR, Winkelmann RK, Stewart JR. Mastocytosis with osseous lesions resembling metastatic malignant lesions in bone. J Bone Joint Surg Am. 1968;50(1):142-152.
21) Desportes E, Lincot J, Hess A,Descamps V, Dallaudière B. Axial osseous lesions mimicking disseminated metastases, a report of osseous mastocytosis. JBR-BTR. 2014;97(5):295-297.
22) Chen CC1, Andrich MP, Mican JM, Metcalfe DD. A retrospective analysis of bone scan abnormalities in mastocytosis: correlation with disease category and prognosis. J Nucl Med 1994;35(9):1471-1475.
23) Graves L 3rd, Stechschulte DJ, Morris DC, Lukert BP. Inhibition of mediator release in systemic mastocytosis is associated with reversal of bone changes. J Bone Miner Res 1990;5(11):1113-1119.
24) Avila NA, Ling A, Metcalfe DD, Worobec AS. Mastocytosis: magnetic resonance imaging patterns of marrow disease. Skeletal Radiol 1998;27(3):119-126.
25) Brumsen C, Papapoulos SE, Lentjes EG, Kluin PM, Hamdy NA. A potential role for the mast cell in the pathogenesis of idiopathic osteoporosis in men. Bone. 2002;31(5):556-561.
26) Kropil P, Fenk R, Fritz LB, et al. Comparison of whole-body 64-slice multidetector computed tomography and conventional radiography in staging of multiple myeloma. Eur Radiol 2008;18:51-58.
27) Meyer HJ, Pönisch W, Monecke A, Gundermann P, Surov A. Can Diagnostic Low-dose Whole-body CT Reflect Bone Marrow Findings in Systemic Mastocytosis? Anticancer Res 2020;40(2):1015-1022.
28) Swartz PG, Roberts CC. Radiological reasoning: bone marrow changes on MRI. AJR Am J Roentgenol 2009;193(3 Suppl):S1-4.
29) Roca M, Mota J, Giraldo P, García Erce JA. Systemic mastocytosis: MRI of bone marrow involvement. Eur Radiol 1999;9(6):1094-1097.
30) Daldrup-Link HE, Henning T, Link TM. MR imaging of therapy-induced changes of bone marrow. Eur Radiol 2007;17(3):743-761.
31) Lecouvet FE. Whole-Body MR Imaging: Musculoskeletal Applications. Radiology 2016;279(2):345-365.
32) Djelbani-Ahmed S, Chandesris MO, Mekinian A, et al. FDG-PET/CT findings in systemic mastocytosis: a French multicentre study. Eur J Nucl Med Mol Imaging 2015;42(13):2013-2020.
33) Jensen RT. Gastrointestinal abnormalities and involvement in systemic mastocytosis. Hematol Oncol Clin North Am. 2000 Jun;14(3):579-623.
34) Sokol H, Georgin-Lavialle S,et al. Gastrointestinal involvement and manifestations in systemic mastocytosis. Inflamm Bowel Dis. 2010 Jul;16(7):1247-1253.
35) Quinn SF, Shaffer HA Jr, Willard MR, Ross S. Bull's-eye lesions: a new gastrointestinal presentation of mastocytosis. Gastrointest Radiol. 1984;9(1):13-15.
36) Ustun C, Savage NM, Gotlib J, Bhalla K, Manaloor E, George TI. Systemic mastocytosis with associated clonal hematological non-mast-cell lineage disease: a case review. Am. J. Hematol. 2012;87:191-193.
37) Rosignuolo M, Muscianese M, Pranteda G. Systemic mastocytosis presenting with gastrointestinal, bone and skin involvement. J. Ultrasound 2015;18:287-292.
38) Avila NA, Ling A, Worobec AS, Mican JM, Metcalfe DD. Systemic mastocytosis: CT and US features of abdominal manifestations. Radiology. 1997;202:367-372.
39) Verma SK, McClure K, Parker L, Mitchell DG, Verma M, Bergin D. Simple linear measurements of the normal liver: interobserver agreement and correlation with hepatic volume on MRI. Clin Radiol. 2010 Apr;65(4):315-318.
40) Kucybała I, Ciuk S, Tęczar J. Spleen enlargement assessment using computed tomography: which coefficient correlates the strongest with the real volume of the spleen? Abdom Radiol (NY). 2018 Sep;43(9):2455-2461.
41) Surasi DSS, Wang X, Bathala TK, et al. Utility of Longitudinal Measurement of the Liver with Ultrasound in Comparison to Computed Tomography Liver. Abdom Radiol (NY) 2021 Apr; 27:1-8.
42) Kratzer W, Fritz V, Mason RA, Haenle MM, Kaechele V; Roemerstein Study Group. Factors affecting liver size: a sonographic survey of 2080 subjects. J Ultrasound Med. 2003 Nov;22(11):1155-1161.
43) Yetter EM, Acosta KB, Olson MC, Blundell K. Estimating splenic volume: sonographic measurements correlated with helical CT determination. AJR Am. J.
Roentgenol. 2003;181:1615-1620.
44) Epelboym Y, Keraliya AR, Tirumani SH, Hornick JL, Ramaiya NH, Shinagare AB.
Differences in the imaging features and distribution of non-indolent and indolent mastocytosis: a single institution experience of 29 patients. Clin Imaging. 2017 Jul-Aug;44:111-116.
45) Zhang YN, Fowler KJ, Ozturk Aet al. Liver fibrosis imaging: A clinical review of ultrasound and magnetic resonance elastography. J Magn Reson Imaging 2020;51(1):25-42.
46) Petitclerc L, Gilbert G, Nguyen BN, Tang A. Liver Fibrosis Quantification by Magnetic Resonance Imaging. Top Magn Reson Imaging 2017;26(6):229-241.
47) Faria SC, Ganesan K, Mwangi I, et al. MR Imaging of Liver Fibrosis: Current State of the Art. Radiographics 2009;29(6):1615-1635.
48) Xu Z, Jamison B, Bence-Bruckler I. Smoldering systemic mastocytosis with lymph node involvement mimicking malignant lymphoma. Annals of Hematology 2014;93:1603-1604.
49) Sciumè M, Serpenti F, Muratori S, et al. A case of aggressive systemic mastocytosis with bulky lymphadenopathy showing response to midostaurin. Clin Case Rep. 2020;9(2):978-982.
50) Hügle T, Hogan V, White KE, van Laar JM. Mast cells are a source of transforming growth factor β in systemic sclerosis. Arthritis Rheum. 2011;63(3):795-799.
51) Hermans MA, Broijl A, van Daele PL. A unique presentation of pulmonary disease in advanced systemic mastocytosis, proven by the presence of mast cells in bronchoalveolar lavage: a case report. J Med Case Rep. 2016 Oct 13;10(1):283.
52) Schmidt M, Dercken C, Loke O, Reimann S, Diederich S, Blasius S, et al. Pulmonary
manifestation of systemic mast cell disease. Eur. Respir. J. 2000;15:623-625.
53) Boddaert N, Salvador A, Chandesris MO, et al. Neuroimaging evidence of brain abnormalities in mastocytosis. Transl. Psychiatry 2017;7:e1197.
54) Pieri L, Bonadonna P, Elena C, et al. Clinical presentation and management practice of systemic mastocytosis. A survey on 460 Italian patients. Am. J. Hematol. 2016;91:692-699.
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SILVIA MACAGNINO, Catholic University Rome
Department of Radiological and Hematological Sciences, Università Cattolica del Sacro Cuore, Largo A. Gemelli 1, 00168 Rome, Italy
GIULIA D'AMBRA, Catholic University Rome
Department of Radiological and Hematological Sciences, Università Cattolica del Sacro Cuore, Largo A. Gemelli 1, 00168 Rome, Italy
DANIELE PERLA, Catholic University Rome
Department of Radiological and Hematological Sciences, Università Cattolica del Sacro Cuore, Largo A. Gemelli 1, 00168 Rome, Italy