Screening for retinoblastoma should be part of a "well baby" screening for newborns during the first three months of life, to include:

- The red reflex: checking for a normal reddish-orange reflection from the eye's retina with an ophthalmoscope or retinoscope from approximately 30 cm / 1 foot, usually done in a dimly lit or dark room.

- The corneal light reflex / Hirschberg test: checking for symmetrical reflection of beam of light in the same spot on each eye when a light is shined into each cornea, to help determine whether the eyes are crossed.

- Eye examination: checking for any structural abnormalities.

- Bryan Shaw helped develop a smart-phone app that can detect leukocoria in photos.

Identifying the "RB1" gene mutation that led to a child's retinoblastoma can be important in the clinical care of the affected individual and in the care of (future) siblings and offspring.It may run in the family.

1. Bilaterally affected individuals and 13-15% of unilaterally affected individuals, are expected to show an RB1 mutation in blood. By identifying the "RB1" mutation in the affected individual, (future) siblings, children, and other relatives can be tested for the mutation; if they do not carry the mutation, child relatives are not at risk of retinoblastoma so need not undergo the trauma and expense of examinations under anaesthetic. For the 85% of unilaterally affected patients found not to carry either of their eye tumor RB1 mutations in blood, neither molecular testing nor clinical surveillance of siblings is required.

2. If the "RB1" mutation of an affected individual is identified, amniotic cells in an at-risk pregnancy can be tested for the family mutation; any fetus that carries the mutation can be delivered early, allowing early treatment of any eye tumors, leading to better visual outcomes.

3. For cases of unilateral retinoblastoma where no eye tumor is available for testing, if no "RB1" mutation is detected in blood after high sensitivity molecular testing (i.e. >93% RB1 mutation detection sensitivity), the risk of a germline "RB1" mutation is reduced to less than 1%, a level at which only clinic examination (and not examinations under anaesthetic) is recommended for the affected individual and their future offspring (National Retinoblastoma Strategy, Canadian Guidelines for Care).

"FLCN" mutations are detected by sequencing in 88% of probands with Birt–Hogg–Dubé syndrome. This means that some people with the clinical diagnosis have mutations that are not detectable by current technology, or that mutations in another currently unknown gene could be responsible for a minority of cases. In addition, amplifications and deletions in exonic regions are also tested. Genetic testing can be useful to confirm the clinical diagnosis of and to provide a means of determining other at-risk individuals in a family even if they have not yet developed BHD symptoms.

The cutaneous manifestations of Birt–Hogg–Dubé were originally described as fibrofolliculomas (abnormal growths of a hair follicle), trichodiscomas (hamartomatous lesions with a hair follicle at the periphery, often found on the face), and acrochordons (skin tags). Cutaneous manifestations are confirmed by histology. Most individuals (89%) with BHD are found to have multiple cysts in both lungs, and 24% have had one or more episodes of pneumothorax. The cysts can be detected by chest CT scan. Renal tumors can manifest as multiple types of renal cell carcinoma, but certain pathological subtypes (including chromophobe, oncocytoma, and oncocytic hybrid tumors) are more commonly seen. Although the original syndrome was discovered on the basis of cutaneous findings, it is now recognized that individuals with Birt–Hogg–Dubé may only manifest the pulmonary and/or renal findings, without any skin lesions. Though these signs indicate BHD, it is only confirmed with a genetic test for FLCN mutations.

Pineoblastoma (also pinealoblastoma) is a malignant tumor of the pineal gland. A pineoblastoma is a supratentorial midline primitive neuroectodermal tumor.

Pineoblastoma may occur in patients with hereditary uni- or bilateral retinoblastoma. When retinoblastoma patients present with pineoblastoma this is characterized as "trilateral retinoblastoma". Up to 5% of patients with hereditary retinoblastoma are at risk of developing trilateral retinoblastoma. Prognosis of patients with trilateral retinoblastoma is dismal, only a few patients have survived more than 5 years after diagnosis; all survivors were diagnosed with small tumors in a subclinical stage. Recent advances in (high-dose) chemotherapy treatment regimens and early detection have improved survival of patients with trilateral retinoblastoma to up to 50%.

Hormonal syndromes should be confirmed with laboratory testing. Laboratory findings in Cushing syndrome include increased serum glucose (blood sugar) and increased urine cortisol. Adrenal virilism is confirmed by the finding of an excess of serum androstenedione and dehydroepiandrosterone. Findings in Conn syndrome include low serum potassium, low plasma renin activity, and high serum aldosterone. Feminization is confirmed with the finding of excess serum estrogen.

Radiological studies of the abdomen, such as CT scans and magnetic resonance imaging are useful for identifying the site of the tumor, differentiating it from other diseases, such as adrenocortical adenoma, and determining the extent of invasion of the tumor into surrounding organs and tissues. CT scans of the chest and bone scans are routinely performed to look for metastases to the lungs and bones respectively. These studies are critical in determining whether or not the tumor can be surgically removed, the only potential cure at this time.

Trilateral retinoblastoma (TRb) is a malignant midline primitive neuroectodermal tumor occurring in patients with inherited uni- or bilateral retinoblastoma. In most cases trilateral retinoblastoma presents itself as pineoblastoma (pineal TRb). In about a fourth of the cases the tumor develops in another intracranial region, most commonly supra- or parasellar (non-pineal TRb), but there are reported cases with non-pineal TRb in the 3rd ventricle. In most cases pineal TRb is diagnosed before the age of 5, but after the diagnosis of retinoblastoma. Non-pineal TRb, however, is often diagnosed simultaneous with retinoblastoma. Prognosis of patients with trilateral retinoblastoma is dismal, only a few patients have survived more than 5 years after diagnosis; all survivors were diagnosed with small tumors in a subclinical stage. Recent advances in (high-dose) chemotherapy treatment regimens and early detection have improved survival of patients with trilateral retinoblastoma.

Many types of blastoma have been linked to a mutation in tumor suppressor genes. For example, pleuropulmonary blastomas have been linked to a mutation of the coding for p53. However, the mutation which allows proliferation of incompletely differentiated cells can vary from patient to patient and a mutation can alter the prognosis. In the case of retinoblastoma, patients carry a visibly abnormal karyotype, with a loss of function mutation on a specific band of chromosome 13. This recessive deletion on the rb gene is also associated with other cancer types and must be present on both alleles, for a normal cell to progress towards malignancy.

A blastoma is a type of cancer, more common in children, that is caused by malignancies in precursor cells, often called blasts. Examples are nephroblastoma, medulloblastoma and retinoblastoma. The suffix "-blastoma" is used to imply a tumor of primitive, incompletely differentiated (or precursor) cells, e.g., chondroblastoma is composed of cells resembling the precursor of chondrocytes.

Family physicians and orthopedists rarely see a malignant bone tumor (most bone tumors are benign). The route to osteosarcoma diagnosis usually begins with an X-ray, continues with a combination of scans (CT scan, PET scan, bone scan, MRI) and ends with a surgical biopsy. A characteristic often seen in an X-ray is Codman's triangle, which is basically a subperiosteal lesion formed when the periosteum is raised due to the tumor. Films are suggestive, but bone biopsy is the only definitive method to determine whether a tumor is malignant or benign.

Most times, the early signs of osteosarcoma are caught on X-rays taken during routine dental check-ups. Osteosarcoma frequently develops in the mandible (lower jaw); accordingly, Dentist are trained to look for signs that may suggest osteosarcoma. Even though radiographic findings for this cancer vary greatly, one usually sees a symmetrical widening of the periodontal ligament space. If the dentist has reason to suspects osteosarcoma or another underlying disorder, he or she would refer the patient to an Oral & Maxillofacial surgeon for biopsy. A biopsy of suspected osteosarcoma outside of the facial region should be performed by a qualified orthopedic oncologist. The American Cancer Society states: "Probably in no other cancer is it as important to perform this procedure properly. An improperly performed biopsy may make it difficult to save the affected limb from amputation." It may also metastasise to the lungs, mainly appearing on the chest X-ray as solitary or multiple round nodules most common at the lower regions.

Usually, treatment of a lipoma is not necessary, unless the tumor becomes painful or restricts movement. They are usually removed for cosmetic reasons, if they grow very large, or for histopathology to check that they are not a more dangerous type of tumor such as a liposarcoma. This last point can be important as the characteristics of a "bump" are not known until after it is removed and medically examined.

Lipomas are normally removed by simple excision. The removal can often be done under local anaesthetic, and takes less than 30 minutes. This cures the great majority of cases, with about 1–2% of lipomas recurring after excision. Liposuction is another option if the lipoma is soft and has a small connective tissue component. Liposuction typically results in less scarring; however, with large lipomas it may fail to remove the entire tumor, which can lead to regrowth.

New methods under development are supposed to remove the lipomas without scarring. One is removal by injecting compounds that trigger lipolysis, such as steroids or phosphatidylcholine.

Ocular oncology is the branch of medicine dealing with tumors relating to the eye and its adnexa.

Ocular oncology takes into consideration that the primary requirement for patients is preservation of life by removal of the tumor, along with best efforts directed at preservation of useful vision, followed by cosmetic appearance. The treatment of ocular tumors is generally a multi-specialty effort, requiring coordination between the ophthalmologist, medical oncologist, radiation specialist, head & neck surgeon/ENT surgeon, pediatrician/internal medicine/hospitalist and a multidisciplinary team of support staff and nurses.

A cancer syndrome or family cancer syndrome is a genetic disorder in which inherited genetic mutations in one or more genes predispose the affected individuals to the development of cancers and may also cause the early onset of these cancers. Cancer syndromes often show not only a high lifetime risk of developing cancer, but also the development of multiple independent primary tumors. Many of these syndromes are caused by mutations in tumor suppressor genes, genes that are involved in protecting the cell from turning cancerous. Other genes that may be affected are DNA repair genes, oncogenes and genes involved in the production of blood vessels (angiogenesis). Common examples of inherited cancer syndromes are hereditary breast-ovarian cancer syndrome and hereditary non-polyposis colon cancer (Lynch syndrome).

Amputation is the initial treatment, although this alone will not prevent metastasis. Chemotherapy combined with amputation improves the survival time, but most dogs still die within a year. Surgical techniques designed to save the leg (limb-sparing procedures) do not improve the prognosis.

Some current studies indicate osteoclast inhibitors such as alendronate and pamidronate may have beneficial effects on the quality of life by reducing osteolysis, thus reducing the degree of pain, as well as the risk of pathological fractures.

Hereditary cancer syndromes underlie 5 to 10% of all cancers. Scientific understanding of cancer susceptibility syndromes is actively expanding: additional syndromes are being found, the underlying biology is becoming clearer, and commercialization of diagnostic genetics methodology is improving clinical access. Given the prevalence of breast and colon cancer, the most widely recognized syndromes include hereditary breast-ovarian cancer syndrome (HBOC) and hereditary non-polyposis colon cancer (HNPCC, Lynch syndrome).

Some rare cancers are strongly associated with hereditary cancer predisposition syndromes. Genetic testing should be considered with adrenocortical carcinoma; carcinoid tumors; diffuse gastric cancer; fallopian tube/primary peritoneal cancer; leiomyosarcoma; medullary thyroid cancer; paraganglioma/pheochromocytoma; renal cell carcinoma of chromophobe, hybrid oncocytic, or oncocytoma histology; sebaceous carcinoma; and sex cord tumors with annular tubules. Primary care physicians can identify people who are at risk of heridatary cancer syndrome.

Molecular (DNA) testing for PAX6 gene mutations (by sequencing of the entire coding region and deletion/duplication analysis) is available for isolated aniridia and the Gillespie syndrome. For the WAGR syndrome, high-resolution cytogenetic analysis and fluorescence in situ hybridization (FISH) can be utilized to identify deletions within chromosome band 11p13, where both the PAX6 and WT1 genes are located.

Lipomatosis is believed to be a hereditary condition in which multiple lipomas are present on the body.

Adiposis dolorosa (Dercum disease) is a rare condition involving multiple painful lipomas, swelling, and fatigue. Early studies mentioned prevalence in obese postmenopausal women. However, current literature demonstrates that Dercum disease is present in more women than men of all body types; the average age for diagnosis is 35 years.

Benign symmetric lipomatosis (Madelung disease) is another condition involving lipomatosis. It nearly always appears in middle-aged males after many years of alcoholism. But, non-alcoholics and females can also be affected.

Orbital dermoid cysts are benign which are typically found at the junction of sutures, most commonly at the fronto-zygomatic suture. Large deep orbital dermoid cysts can cause pressure effects on the muscles and optic nerve, leading to diplopia and loss of vision.

Norrie disease and other NDP related diseases are diagnosed with the combination of clinical findings and molecular genetic testing. Molecular genetic testing identifies the mutations that cause the disease in about 85% of affected males. Clinical diagnoses rely on ocular findings. Norrie disease is diagnosed when grayish-yellow fibrovascular masses are found behind the eye from birth through three months. Doctors also look for progression of the disease from three months through 8–10 years of age. Some of these progressions include cataracts, iris atrophy, shallowing of anterior chamber, and shrinking of the globe. By this point, people with the condition either have only light perception or no vision at all.

Molecular genetic testing is used for more than an initial diagnosis. It is used to confirm diagnostic testing, for carrier testing females, prenatal diagnosis, and preimplantation genetic diagnosis. There are three types of clinical molecular genetic testing. In approximately 85% of males, mis-sense and splice mutations of the NDP gene and partial or whole gene deletions are detected using sequence analysis. Deletion/duplication analysis can be used to detect the 15% of mutations that are submicroscopic deletions. This is also used when testing for carrier females. The last testing used is linkage analysis, which is used when the first two are unavailable. Linkage analysis is also recommended for those families who have more than one member affected by the disease.

On MRI the retinal dysplasia that occurs with the syndrome can be indistinguishable from persistent hyperplastic primary vitreous, or the dysplasia of trisomy 13 and Walker–Warburg syndrome.

CT and MRI are most often used to identify intracranial abnormalities. When a child is born with a facial cutaneous vascular malformation covering a portion of the upper or the lower eyelids, imaging should be performed to screen for intracranial leptomeningeal angiomatosis. The haemangioma present on the surface of the brain is in the vast majority of cases on the same side as the birth mark and gradually results in calcification of the underlying brain and atrophy of the affected region

Blastomere biopsy is a technique in which blastomeres are removed from the zona pellucida. It is commonly used to detect aneuploidy. Genetic analysis is conducted once the procedure is complete. Additional studies are needed to assess the risk associated with the procedure.

Pre-implantation genetic diagnosis (PGD or PIGD) is a technique used to identify genetically normal embryos and is useful for couples who have a family history of genetic disorders. This is an option for people choosing to procreate through IVF. PGD is considered difficult due to it being both time consuming and having success rates only comparable to routine IVF.

TS can be diagnosed based on clinical observations, but is usually confirmed by histopathology of a lesional biopsy or a plucked spicule. Characteristic histological findings include enlarged and abnormally organized hair follicles and hyperproliferation of inner root sheath cells containing large eosinophilic trichohyalin granules. Antibodies against major capsid protein VP1, the major component of the viral capsid, can be used to confirm the presence of viral particles in cell nuclei. Electron microscopy can also be used to detect viral particles. Quantification of viral load can be performed using quantitative PCR, as affected skin demonstrates much higher viral loads compared to unaffected skin or to asymptomatic individuals who test positive for viral DNA.

Differential diagnosis includes other visually similar conditions affecting the hair follicles, many of which appear as drug side effects. A proposed classification system lists TS as one of a group of cutaneous conditions with similar manifestations and distinct etiologies, collectively called the digitate keratoses. Although confirmed TS is very rare, the condition is thought to be underdiagnosed.

Adult survivors of childhood cancer have some physical, psychological, and social difficulties.

Premature heart disease is a major long-term complication in adult survivors of childhood cancer. Adult survivors are eight times more likely to die of heart disease than other people, and more than half of children treated for cancer develop some type of cardiac abnormality, although this may be asymptomatic or too mild to qualify for a clinical diagnosis of heart disease.