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]

Overview

Hamartomas must be differentiated from other diseases that result on fat containing lesions such as lipomas and metastases.

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.
• The table below summarizes the findings that differentiate hypothalamic hamartoma from other conditions that are also suprasellar and hypothalamic lesions.

Disease	Findings
Hypothalamic-chiasmatic glioma	Hypothalamic-optochiasmatic gliomas are a subset of astrocytic tumours 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)
Craniopharyngioma	Craniopharyngioma is a type of brain tumor derived from pituitary gland embryonic tissue Occurs most commonly in children but also in men and women between 50-60 years of age Symptoms may present with bitemporal inferior quadrantanopia leading to bitemporal hemianopia, as the tumor may compress the optic chiasm
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	Pituitary macroadenoma is a common pituitary gland tumor Patients with pituitary adenoma may progress to develop lethargy, headache, nausea, and vomiting Common complications of pituitary adenoma include bitemporal hemianopia, anosmia, acromegaly, and gigantism

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	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
Myelolipoma	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.
Metastatic disease	Pulmonary metastases are common and usually asymptomatic, with constitutional symptoms relating to disseminated metastatic disease and those attributable to the primary tumour dominating Common symptoms include hemoptysis and pneumothorax Pulmonary metastases tend to be single or multiple
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

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	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
Metastasis	Metastases are uncommon tumors of the heart, arising by lymphatic or hematogenous spread of a primary neoplasm Presents with dyspnea,congestive heart failure, hypotension and malignant pericardial effusion Any primary malignancy may metastasize to the heart, however, lung cancer is among the most common.

Spleen, Kidneys and Vascular Organs

• The table below summarizes the findings that differentiate spleen, kidneys, and vascular organs from other conditions that cause a incidental findings that resemble hamartoma.

Disease	Findings
Splenic hemangioma	Splenic hemangiomas, are considered the second most common focal lesion on the spleen Most hemangiomas tend to be discovered in adults from mid-30s to mid-50s years of age They may be associated with splenomegaly, abdominal pain, dyspnea,and diarrhea
Retroperitoneal liposarcoma	Retroperitoneal liposarcoma is the most common primary retroperitoneal neoplasm Retroperitoneal liposarcoma is a subtype of liposarcoma, a malignant tumour 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, they show no predilection to one peculiar side. Symptoms of adrenolipoma include abdominal pain, haematuria, 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

References

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