Rhabdomyoma differential diagnosis

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Syed Hassan A. Kazmi BSc, MD [2] Nima Nasiri, M.D.[3]

Overview

Rhabdomyoma is a benign tumor of striated muscle. Rhabdomyomas are rare and can be classified into cardiac type and extracardiac type.The most common primary benign pediatric tumor of the heart is cardiac rhabdomyoma which can be seen mainly in fetal life and children, second most common primary benign cardiac tumor in children is fibroma. Most tumors regress spontaneously, prognosis depends on the location of tumor and size. Cardiac rhabdomyoma is strongly associated with tuberous sclerosis.


Differentiating Rhabdomyoma from Other Diseases

Differential Diagnosis of Cardiac Rhabdomyoma

Cardiac rhabdomyoma should be differentiated from other cardiac tumors that present as a cardiac mass. The following are the differentials:[1][2][3][4][5][6][7][8][9][10][11][12][13][14][15][16][17][18][19][20][21][22][23][24][25][26][27][28][29][30][31][32][33][34][35][36][37][38][39][40][41][42][43][44][45][46][47]

Site of Tumor Malignant Potential Type of Tumor Tissue of Origin Age of Presentation Location Morphology Signs and Symptoms MRI Findings
Systemic Manifestations Cardiac Manifestations Embolic Manifestations
Primary Cardiac Tumor Primary Benign Myxoma
  • Between third to sixth decade of life
  • 1-15 cm in diameter
  • Pedunculated
  • Polypoid
  • Smooth and lobulated
  • Villous and pappillary appearance associated with embolization
Rhabdomyoma
  • Striated Muscle
  • 1-3 cm in size
  • Yellow-gray color
  • Firm
  • Circumscribed lobulated
  • Majority multiple if associated with tuberous sclerosis (of those with no association, 50% are single)
  • Multiple masses isointense to muscle tissue on T1 images
  • Hyperintense on T2 images
Cardiac Fibroma
  • Children (1/3rd in infants)
  • Solitary
  • Solitary mass
  • Low intensity on T2 weighted image
Fibroelastoma
  • < 1 cm in diameter
  • Solitary
  • Papillary
  • Flower-like appearance with multiple attachments to valve
  • Short pedicle
  • T1 and T2 weighted images show uniform intermediate signal intensity similar to myocardium
  • Homogeneous late gadolinium contrast enhancement
Hemangioma
  • < 1 year to 70 years
  • < 2 % of primary cardiac tumors
  • Polypoid
  • Encapsulated
  • Intermediate density on T1 images
  • Hypointense on T2 images
  • Multicystic enhancing lesion
  • Involvement of epicardium or pericardium
Lipoma
  • Between fourth to sixth decade of life
  • Epicardial or intramural lesion
  • High intensity on T1 weighted image
  • Drop out on fat saturation images
Paraganglioma
  • Average age of presentation is 11-13 years
  • 3-8 cm
  • Well-defined
  • Broad base
  • Encapsulated
  • Heterogeneous
  • Hypervascular
Atrioventricular Node Tumor
  • Average age of diagnosis is 38 years
  • Female to male ratio 3:1
  • Hypointense cardiac mass on standard imaging
  • Hyperintensity on late gadolinium enhancement (LGE) images with heterogeneous contrast enhancement
Lipomatous hypertrophy of the interatrial septum
  • > 60 years
 -
Primary Malignant Fibrosarcoma
  • 20 to 80 years
  • Sessile or pedunculated protruding masses in ventricular cavities
  • Soft
  • Lobulated
  • Gelatinous
  • Heterogenous or isointense to myocardium on T1 weighted images
Angiosarcoma
  • 30 to 50 years
  • Arterial phase enhancement
Rhabdomyosarcoma
  • Most common primary sarcoma of children
  • Average age of presentation is 20 years
  • Multiple
  • Three types:
    • Embryonic
    • Pleomorphic
    • Alveolar
  • Intermediate-to-hypointensity compared with muscle on T1 images
  • Hyperintense on T2-weighted imaging with heterogeneous contrast enhancement
Lymphoma
  • 10 to 90 years
  • Males > females
  • Right sided mostly
  • Majority solitary (1/3rd multiple)
  • Hypointense on T1-weighted images and hyperintense on T2-weighted images
Secondary Cardiac Tumor Metastastatic Malignant Metastasis
  • Any age
  • Multiple

Extra Cardiac Rhabdomyoma

  • Rhabdomyomas must be differentiated from other diseases, such as:[48][49][50][51]
Extra-cardiac Rhabdomyoma

(Adult , Fetal ,

Genital)

Type of tumor Site of Tumor Tissue of origin Clinical manifestations Para-clinical findings Gold standard Additional findings
Symptoms Physical examination Histopathology
Hibernoma[52][53][54]
  • Inter-scapular area(most common location)
  • Other common sites include the neck, axillae, thigh, and intra-thoracic area.
  • Brown fat origin
  • Asymptomatic( majority of cases)
  • Painful lump when grows and compresses surrounding tissue
  • Soft tissue mass
  • Tenderness on palpation
  • Well-defined, encapsulated or circumscribed mass
  • Soft, yellow tan to brown mass
  • Average size of 10 cm
  • Round, polygonal, multi-vacuolated brown fat cells, with abundant mature adipose cells on microscopic histology.
  • Biopsy and histology
Reticulohistyocytoma[55][56]
  • Head and neck, upper trunk
  • Histiyocyte
  • Skin lesion
  • Itching of skin lesion on one third of patients
  • Weight loss
  • Fever
  • Joint pain
  • Skin nodules, papules
  • Mucosal lesion(gums,tongue)
  • Arthritis
  • Solitary firm, dermal skin lesion
  • Less than 1 cm in diameter
  • Lymphocytic infiltrate with histiocytes and giant cells
  • Excisional biopsy of a nodule
  • Xanthelasma in 30% of cases
Granular cell tumor[57][58]
  • Tongue and oral cavity(most common site)
  • Extremities, genitalia, and even visceral organs
  • Schwann cells
  • Painless swelling
  • Occasional lymphadenopathy
  • Solitary non-tender skin-colored 1×1 cm-sized slightly raised papule
  • Large polygonal cells containing abundant eosinophilic cytoplasm with fine granules
  • Punch biopsy

References

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  2. ↑ Zaragoza-Macias E, Zaragosa-Macias E, Chen MA, Gill EA (February 2012). "Real time three-dimensional echocardiography evaluation of intracardiac masses". Echocardiography. 29 (2): 207–19. doi:10.1111/j.1540-8175.2011.01627.x. PMID 22283202.
  3. ↑ Larrieu AJ, Jamieson WR, Tyers GF, Burr LH, Munro AI, Miyagishima RT, Gerein AN, Allen P (March 1982). "Primary cardiac tumors: experience with 25 cases". J. Thorac. Cardiovasc. Surg. 83 (3): 339–48. PMID 7062746.
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  6. ↑ Sarjeant JM, Butany J, Cusimano RJ (2003). "Cancer of the heart: epidemiology and management of primary tumors and metastases". Am J Cardiovasc Drugs. 3 (6): 407–21. doi:10.2165/00129784-200303060-00004. PMID 14728061.
  7. ↑ St John Sutton MG, Mercier LA, Giuliani ER, Lie JT (June 1980). "Atrial myxomas: a review of clinical experience in 40 patients". Mayo Clin. Proc. 55 (6): 371–6. PMID 7382545.
  8. ↑ Pinede L, Duhaut P, Loire R (May 2001). "Clinical presentation of left atrial cardiac myxoma. A series of 112 consecutive cases". Medicine (Baltimore). 80 (3): 159–72. PMID 11388092.
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  10. ↑ Javed A, Zalawadiya S, Kovach J, Afonso L (March 2014). "Aortic valve myxoma at the extreme age: a review of literature". BMJ Case Rep. 2014. doi:10.1136/bcr-2013-202689. PMC 3962858. PMID 24642215.
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  14. ↑ Klarich KW, Enriquez-Sarano M, Gura GM, Edwards WD, Tajik AJ, Seward JB (September 1997). "Papillary fibroelastoma: echocardiographic characteristics for diagnosis and pathologic correlation". J. Am. Coll. Cardiol. 30 (3): 784–90. PMID 9283541.
  15. ↑ Tamin SS, Maleszewski JJ, Scott CG, Khan SK, Edwards WD, Bruce CJ, Oh JK, Pellikka PA, Klarich KW (June 2015). "Prognostic and Bioepidemiologic Implications of Papillary Fibroelastomas". J. Am. Coll. Cardiol. 65 (22): 2420–9. doi:10.1016/j.jacc.2015.03.569. PMID 26046736.
  16. ↑ Gowda RM, Khan IA, Nair CK, Mehta NJ, Vasavada BC, Sacchi TJ (September 2003). "Cardiac papillary fibroelastoma: a comprehensive analysis of 725 cases". Am. Heart J. 146 (3): 404–10. doi:10.1016/S0002-8703(03)00249-7. PMID 12947356.
  17. ↑ Beghetti M, Gow RM, Haney I, Mawson J, Williams WG, Freedom RM (December 1997). "Pediatric primary benign cardiac tumors: a 15-year review". Am. Heart J. 134 (6): 1107–14. PMID 9424072.
  18. ↑ Smythe JF, Dyck JD, Smallhorn JF, Freedom RM (November 1990). "Natural history of cardiac rhabdomyoma in infancy and childhood". Am. J. Cardiol. 66 (17): 1247–9. PMID 2239731.
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  21. ↑ Basu S, Folliguet T, Anselmo M, Greengart A, Sabado M, Cunningham JN, Jacobowitz IJ (April 1994). "Lipomatous hypertrophy of the interatrial septum". Cardiovasc Surg. 2 (2): 229–31. PMID 8049952.
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  30. ↑ Yoshitake I, Hata M, Sezai A, Niino T, Unosawa S, Shimura K, Kasamaki Y, Minami K (September 2009). "Cardiac angiosarcoma with cardiac tamponade diagnosed as a ruptured aneurysm of the sinus valsalva". Jpn. J. Clin. Oncol. 39 (9): 612–5. doi:10.1093/jjco/hyp044. PMID 19493870.
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  37. ↑ Yadav, Pradeep K.; Baquero, Giselle A.; Malysz, Jozef; Kelleman, John; Gilchrist, Ian C. (2014). "Cardiac Paraganglioma". Circulation: Cardiovascular Interventions. 7 (6): 851–856. doi:10.1161/CIRCINTERVENTIONS.114.001856. ISSN 1941-7640.
  38. ↑ Tahir M, Noor SJ, Herle A, Downing S (2009). "Right atrial paraganglioma: a rare primary cardiac neoplasm as a cause of chest pain". Tex Heart Inst J. 36 (6): 594–7. PMC 2801953. PMID 20069088.
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  46. ↑ Tatli, Servet; O'Gara, Patrick Thomas; Lambert, Jarvis; Kwong, Raymond; Byrne, John Gerald; Yucel, E. Kent (2004). "MRI of Atypical Lipomatous Hypertrophy of the Interatrial Septum". American Journal of Roentgenology. 182 (3): 598–600. doi:10.2214/ajr.182.3.1820598. ISSN 0361-803X.
  47. ↑ Saboo, Sachin S.; Krajewski, Katherine M.; Zukotynski, Katherine; Howard, Stephanie; Jagannathan, Jyothi P.; Hornick, Jason L.; Ramaiya, Nikhil (2012). "Imaging Features of Primary and Secondary Adult Rhabdomyosarcoma". American Journal of Roentgenology. 199 (6): W694–W703. doi:10.2214/AJR.11.8213. ISSN 0361-803X.
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  49. ↑ Miettinen M, Fetsch JF (April 2006). "Reticulohistiocytoma (solitary epithelioid histiocytoma): a clinicopathologic and immunohistochemical study of 44 cases". Am. J. Surg. Pathol. 30 (4): 521–8. PMID 16625100.
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  52. ↑ DeRosa DC, Lim RB, Lin-Hurtubise K, Johnson EA (December 2012). "Symptomatic hibernoma: a rare soft tissue tumor". Hawaii J Med Public Health. 71 (12): 342–5. PMC 3525332. PMID 23251871.
  53. ↑ Furlong MA, Fanburg-Smith JC, Miettinen M (June 2001). "The morphologic spectrum of hibernoma: a clinicopathologic study of 170 cases". Am. J. Surg. Pathol. 25 (6): 809–14. PMID 11395560.
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  55. ↑ Luz FB, Gaspar AP, Ramos-e-Silva M, Carvalho da Fonseca E, Villar EG, Cordovil Pires AR, Kalil-Gaspar N (2005). "Immunohistochemical profile of multicentric reticulohistiocytosis". Skinmed. 4 (2): 71–7. PMID 15785133.
  56. ↑ Chen CH, Chen CH, Chen HA, Liao HT, Lin HY (October 2006). "Multicentric reticulohistiocytosis presenting with destructive polyarthritis, laryngopharyngeal dysfunction, and a huge reticulohistiocytoma". J Clin Rheumatol. 12 (5): 252–4. doi:10.1097/01.rhu.0000239902.91768.f9. PMID 17023812.
  57. ↑ Hong SC, Lim YK, Chew SH, Chia YN, Yam KL (2012). "Case report of granular cell tumor of the vulva and review of current literature". Gynecol Oncol Case Rep. 3: 20–2. doi:10.1016/j.gynor.2012.10.008. PMC 3862228. PMID 24371657.
  58. ↑ Torrijos-Aguilar A, Alegre-de Miquel V, Pitarch-Bort G, Mercader-García P, Fortea-Baixauli JM (March 2009). "[Cutaneous granular cell tumor: a clinical and pathologic analysis of 34 cases]". Actas Dermosifiliogr (in Spanish; Castilian). 100 (2): 126–32. PMID 19445877.
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