Rhabdoid tumor

What it is

From: Orphanet

Rhabdoid tumor (RT) is an aggressive pediatric soft tissue sarcoma that arises in the kidney, the liver, the peripheral nerves and all miscellaneous soft-parts throughout the body. RT involving the central nervous system (CNS) is called atypical teratoid rhabdoid tumor (ATRT).

Reported clinical features and what the terms mean

The following findings are associated with this condition in Orphanet. They are not a checklist for diagnosing yourself, and they do not all occur in every affected person. Some are examination, imaging or laboratory findings that cannot be recognised at home.

The frequency labels describe how often a finding was reported among people with the condition in the source. They do not give the chance that a person with that symptom has the condition. Definitions below reproduce HPO terminology; they explain the term, not the likely severity in an individual.

Abdominal pain · Frequent (79-30%)

An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen.

Cerebral palsy · Frequent (79-30%)

Cerebral palsy describes a group of permanent disorders of the development of movement and posture, causing activity limitation, that are attributed to nonprogressive disturbances that occurred in the developing fetal or infant brain. The motor disorders of cerebral palsy are often accompanied by disturbances of sensation, perception, cognition, communication, and behavior, by epilepsy, and by secondary musculoskeletal problems.

Fever · Frequent (79-30%)

Body temperature elevated above the normal range.

Headache · Frequent (79-30%)

Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve.

Hematuria · Frequent (79-30%)

The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine).

Hypertension · Frequent (79-30%)

The presence of chronic increased pressure in the systemic arterial system.

Internal hemorrhage · Frequent (79-30%)

The presence of hemorrhage within the body.

Irritability · Frequent (79-30%)

An emotional state characterized by negative feelings of heightened frustration, annoyance, or feeling upset, often triggered by internal factors (e.g., fatigue, hunger, unfulfilled desires) or external factors (e.g., social or environmental challenges). Irritability may be unpredictable, and is accompanied by a lowered threshold for emotional reactivity and observable features (speech, facial expressions, or psychomotor activity).

Lymphadenopathy · Frequent (79-30%)

Enlargement (swelling) of a lymph node.

Nausea and vomiting · Frequent (79-30%)

Nausea is a commonly encountered symptom that has been defined as an unpleasant painless subjective feeling that one will imminently vomit. Vomiting has been defined as the forceful expulsion of the contents of the stomach, duodenum, or jejunum through the oral cavity. While nausea and vomiting are often thought to exist on a temporal continuum, this is not always the case. There are situations when severe nausea may be present without emesis and less frequently, when emesis may be present without preceding nausea.

Neoplasm of the central nervous system · Frequent (79-30%)

A neoplasm of the central nervous system.

Neoplasm of the liver · Frequent (79-30%)

A tumor (abnormal growth of tissue) of the liver.

Oculomotor nerve palsy · Frequent (79-30%)

Reduced ability to control the movement of the eye associated with damage to the third cranial nerve (the oculomotor nerve).

Poor appetite · Frequent (79-30%)

A reduced desire to eat.

Other findings in the same source

From: Orphanet

Additional reported features include Renal neoplasm (Frequent (79-30%)); Sarcoma (Frequent (79-30%)); Subcutaneous nodule (Frequent (79-30%)); Weight loss (Frequent (79-30%)); Cranial nerve paralysis (Frequent (79-30%)); Respiratory insufficiency (Frequent (79-30%)); Anemia (Occasional (29-5%)); Hemiplegia (Occasional (29-5%)); Hypercalcemia (Occasional (29-5%)); Thrombocytopenia (Occasional (29-5%)). This is a selected summary, not a complete description of the condition.

When it may begin

From: Orphanet

Antenatal; Childhood; Infancy; Neonatal

Inheritance in the source

From: Orphanet

Not applicable

Frequency and the population described

From: Orphanet

Reported case(s): 500.0; Worldwide. This is a published case count, not prevalence. Annual incidence: <1 / 1 000 000; Europe; Class only. Point prevalence: Unknown; Worldwide; Class only.

Which doctor should you see?

The suggested department for discussing Rhabdoid tumor is Oncology, with a oncologist and relevant organ specialist as the relevant type of clinician. General physician / Family Medicine; paediatrician for children. Referral depends on symptoms.

Additional services that may be relevant, depending on the findings, include: Relevant organ specialist / Surgical Oncology as indicated.

This is an editorial referral starting point. The appropriate clinic depends on the person’s age, symptoms, previous diagnosis and local services. The first clinician can decide whether another specialty or a team is needed; a department label does not confirm the diagnosis.

How to prepare for an assessment

Bring a short timeline of the main symptoms: when they first appeared, whether they are constant or episodic, what seems to change them, and how they affect daily activities. Include previous reports, discharge summaries, current medicines and supplements, allergies, and any relevant family history. A dated record is more useful than trying to match every feature in an online article.

Ask the clinician what is already established and what remains uncertain. If a test is suggested, ask what question it answers, what its limitations are and how the result would change the next step. The information here is not an instruction to arrange every possible test. In children, bring growth, developmental and school information if it is relevant to the concern.

• Has the exact tumour type been confirmed, and is staging relevant?
• What is the goal of each proposed treatment option?
• How will side effects, daily function and supportive care be addressed?

Treatment discussions and follow-up

The material gathered for this draft does not provide a complete condition-specific treatment pathway for Rhabdoid tumor. That gap does not mean that treatment is unavailable. A clinician needs to establish the diagnosis and review current guidance before recommending medicines, procedures, rehabilitation or other support.

Before leaving the appointment, clarify the next review date, who will communicate results, and whom to contact if the situation changes. Discuss difficulties with sleep, work, school, mobility, eating or emotional wellbeing when these are relevant. Practical support may require coordination between the treating clinician and other services.

The collected references do not establish a complete prevention or long-term outlook section for this entry. Missing information should not be interpreted as proof that prevention is impossible or that a particular outcome is inevitable. Ask what is known for the exact subtype, stage and personal circumstances, and which uncertainties remain.

When to seek emergency help

Severe breathing difficulty, collapse, new stroke-like symptoms, a seizure that is prolonged or repeated without recovery, uncontrolled major bleeding, or an immediate risk of self-harm require emergency help. In India, call 112 or reach the nearest emergency department. This is a general, non-exhaustive warning list; it is not a condition-specific triage tool.