Hamartoma differential diagnosis

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


Hamartomas must be differentiated from other diseases that cause abnormal tissue growth and calcifications, such as calcified metastases and lipomas.[1]

Differentiating Hamartoma from other Diseases

Hypothalamic Hamartomas

  • The differential diagnosis is broadly that of suprasellar and hypothalamic lesions, although the imaging characteristics of hypothalamic hamartomas significantly reduces the differential.
  • Hypothalamic-chiasmatic glioma is the main differential.
  • Other lesions encountered in the region either have markedly different signal intensity or demonstrate enhancement on MRI.[2]
  • The table below summarizes the findings that differentiate hypothalamic hamartoma from other conditions that are also suprasellar and hypothalamic lesions.[3]
Disease Findings
Hypothalamic-chiasmatic glioma
  • Hypothalamic-optochiasmatic gliomas are a subset of astrocytic tumors which have tendency to occur in patients with neurofibromatosis type 1.
  • These may involve the optic nerves, the optic chiasm, and the optic tracts.
  • Between 20 and 50% of patients with hypothalamic gliomas have a positive family history of von Recklinghausen disease (NF-1).
Rathke's cleft cyst
  • Rathke's cleft cyst is a benign growth found on the pituitary gland in the brain, specifically a fluid-filled cyst in the posterior portion of the anterior pituitary gland.
  • Rathke's cleft cyst occurs when the Rathke's pouch does not develop properly and ranges in size from 2 to 40mm in diameter.
  • Asymptomatic cysts are commonly detected during autopsies in 2-26% of individuals who have died of unrelated causes.
  • Females are more commonly affected than males.
Pituitary macroadenoma

Pulmonary Hamartomas

  • The differential diagnosis of pulmonary hamartoma is dependent on CT scan imaging features.
  • The differential is dependent on whether fat or calcification is identifiable within the lesion. If fat is visualized then the differential is narrow, with almost all cases representing pulmonary hamartoma.
  • If neither fat nor calcification is present, then the differential is that of a solitary pulmonary nodule and is significantly broader.
  • The table below summarizes the findings that differentiate pulmonary hamartoma from other conditions that cause a fat containing solitary pulmonary nodule.
Disease Findings
  • Lipoma is a fat exclusive, well circumcised mass
  • Lipomas are likely to have been present for many years and may change size with weight fluctuation
  • These can also be an incidental finding
  • In 5-15% of patients lipomas are multiple and approximately a third of these will be familial[2]
  • Myelolipoma is a very rare, benign pulmonary lesion, usually presenting as an asymptomatic pulmonary nodule
  • Myelolipoma is mainly composed of mature adipose tissue and normal hematopoietic cells.[4]
  • Pulmonary metastases are common and usually asymptomatic, with constitutional symptoms relating to disseminated metastatic disease and those attributable to the primary tumor dominating
  • Common symptoms include hemoptysis and pneumothorax
  • Pulmonary metastases may be single or multiple[2]
Pulmonary Chondroma
  • Pulmonary chondromas are usually associated with Carney’s triad
  • On CT scan, chondromas appear as smoothly marginated, round, or slightly lobulated, small areas of fat
  • Pulmonary chondromas are common in adolescents or young adults[5]

Heart Hamartomas

  • The table below summarizes the findings that differentiate cardiac hamartoma from other conditions that cause a fat containing lesion within the striated muscle of the heart.
Disease Findings
  • Hibernoma is a benign neoplasm of vestigial brown fat.
  • The majority of patients present with a slow-growing, painless, solitary mass, usually of the subcutaneous tissues.
  • In general, imaging studies show a well-defined, heterogeneous mass, usually showing a mass which is hypointense to subcutaneous fat on magnetic resonance T1-weight images. Serpentine, thin, low signal bands (septations or vessels) are often seen throughout the tumor.

Spleen, Kidney and Vascular Organs

  • The table below summarizes the findings that differentiate spleen, kidneys, and vascular organs from other conditions that cause incidental findings similar to hamartoma.
Disease Findings
Splenic hemangioma
Retroperitoneal liposarcoma
  • Retroperitoneal liposarcoma is the most common primary retroperitoneal neoplasm.
  • Retroperitoneal liposarcoma is a subtype of liposarcoma, a malignant tumor of mesenchymal origin that may arise in any fat-containing region of the body.
Adrenal myelolipoma
  • Adrenolipomas are rare benign neoplasms that histologically consist of fat and bone marrow in varying proportions.
  • In general most tumors are unilateral and they show no predilection to one particular side. Symptoms of adrenolipoma include abdominal pain, hematuria, and abdominal fullness.
  • They are rich in adipose tissue and hematopoietic elements.
  • Most lesions are small and asymptomatic.
  • Adrenolipomas are usually detected incidentally in autopsy or by imaging studies performed for other reasons.

Differential Diagnosis of Cardiac Fibroma or Fibrous Hamartoma

Cardiac fibroma or fibrous hamartoma should be differentiated from other cardiac tumors that present as a cardiac mass. The following are the differentials:[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][48][49][50][51][52][53][54]

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
  • 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
  • Children (1/3rd in infants)
  • Solitary
  • Solitary mass
  • Low intensity on T2 weighted image
  • < 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
  • < 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
  • Between fourth to sixth decade of life
  • Epicardial or intramural lesion
  • High intensity on T1 weighted image
  • Drop out on fat saturation images
  • 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
  • 30 to 50 years
  • Arterial phase enhancement
  • 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
  • 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


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