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. Most 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/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, that occurs most commonly in children but also in men and women between 50 and 60 years old. People 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. It 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 to 26 percent of individuals who have died of unrelated causes. Females are twice as likely as males to develop a cyst.
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 is dependent on whether fat or calcification is identifiable within the lesion. If fat is visualised then the differential is narrow, with almost all cases representing pulmonary hamartoma. However, the presence of calcification also significantly narrows the differential, but to a lesser degree. 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	Typically a lipoma is a fat exclusive, well circumcised mass. They are likely to have been present for many years, and may change size with weight fluctuation. They can also be an incidental finding. In 5-15% of patients lipomas are multiple, and approximately a third of these will be familial.</nowiki>
Myelolipoma	Myelolipoma is a very rare, benign pulmonary lesion, usually presenting as an asymptomatic pulmonary nodule. 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. Haemoptysis and pneumothorax are sometimes the presenting symptom. They tend to be single or multiple.</nowiki>
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. Common in adolescents or young adults.

Heart

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	A hibernoma is a benign neoplasm of vestigial brown fat. Patients present with a slow-growing, painless, solitary mass, usually of the subcutaneous tissues. It is much less frequently noted in the intramuscular tissue. It is not uncommon for symptoms to be present for years. 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	Secondary malignant tumor 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 commonest focal lesion on the spleen. Prevalence rate is thought to range around 0.1-14% 7-8. 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, diarrhea.
Retroperitoneal liposarcoma	It is one of the most common primary retroperitoneal neoplasms. 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, they are small, unilateral, and hormonally inactive. 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. Most tumors are unilateral, they show no predilection to one peculiar side. Symptoms of adrenolipoma include abdominal pain, haematuria, and abdominal fullness.

References

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