Malignant rhabdoid tumour: Difference between revisions

Revision as of 06:07, 16 February 2025

A rare and aggressive form of cancer

Malignant rhabdoid tumour (MRT) is a rare and highly aggressive form of cancer that primarily affects young children. It is characterized by the presence of rhabdoid cells, which are large cells with abundant cytoplasm and eccentric nuclei. MRT can occur in various parts of the body, but it most commonly arises in the kidney and the central nervous system.

Presentation

Malignant rhabdoid tumours can present with a variety of symptoms depending on their location. When occurring in the kidney, they may present as an abdominal mass, hematuria, or hypertension. In the central nervous system, symptoms may include headache, vomiting, and neurological deficits.

Pathophysiology

MRT is associated with mutations in the SMARCB1 gene, also known as INI1, which is a tumor suppressor gene. The loss of function of this gene leads to uncontrolled cell growth and tumor development. The exact mechanism by which SMARCB1 mutations lead to rhabdoid tumors is still under investigation.

Diagnosis

The diagnosis of malignant rhabdoid tumour is typically made through a combination of imaging studies and histological examination. Imaging studies such as MRI or CT scan can help identify the presence and extent of the tumor. A biopsy is necessary to confirm the diagnosis, with histological analysis revealing the characteristic rhabdoid cells.

Treatment

Treatment for MRT often involves a combination of surgery, chemotherapy, and radiation therapy. Surgical resection of the tumor is usually attempted, followed by chemotherapy regimens that may include agents such as vincristine, doxorubicin, and cyclophosphamide. Radiation therapy may be used to target residual disease.

Prognosis

The prognosis for patients with malignant rhabdoid tumour is generally poor, with a high rate of recurrence and metastasis. The overall survival rate is low, particularly for tumors that occur outside the kidney. Early detection and aggressive treatment are critical for improving outcomes.

Related pages

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-'''Malignant rhabdoid tumour''' ('''MRT''') is a rare and highly aggressive form of [[cancer]] that primarily affects children. It was first described in the medical literature in the 1970s and is characterized by the presence of rhabdoid cells, which are large, round cells with eccentric nuclei and abundant cytoplasm.
+{{Short description|A rare and aggressive form of cancer}}
+{{Use dmy dates|date=October 2023}}
-==Epidemiology==
+'''Malignant rhabdoid tumour''' (MRT) is a rare and highly aggressive form of cancer that primarily affects young children. It is characterized by the presence of rhabdoid cells, which are large cells with abundant cytoplasm and eccentric nuclei. MRT can occur in various parts of the body, but it most commonly arises in the [[kidney]] and the [[central nervous system]].
-MRT is most commonly diagnosed in children under the age of three, but it can occur at any age. The incidence is estimated to be around 1 in 1,000,000 children. There is no known gender or racial predilection.
-==Pathogenesis==
+==Presentation==
-The exact cause of MRT is unknown, but it is believed to be related to mutations in the [[SMARCB1]] gene. This gene is responsible for producing a protein that helps regulate cell growth and division. When this gene is mutated, it can lead to uncontrolled cell growth and the development of a tumour.
+[[File:Rhabdoid_tumor.jpg|thumb|right|Histological image of a rhabdoid tumor showing characteristic rhabdoid cells.]]
+Malignant rhabdoid tumours can present with a variety of symptoms depending on their location. When occurring in the kidney, they may present as an abdominal mass, hematuria, or hypertension. In the central nervous system, symptoms may include headache, vomiting, and neurological deficits.
-==Clinical Features==
+==Pathophysiology==
-MRT can occur in any part of the body, but it most commonly affects the [[kidney]]s, [[brain]], and [[soft tissues]]. Symptoms can vary depending on the location of the tumour, but they often include pain, swelling, and a noticeable lump. If the tumour is in the brain, symptoms may also include headaches, nausea, and changes in behaviour or personality.
+MRT is associated with mutations in the [[SMARCB1]] gene, also known as INI1, which is a tumor suppressor gene. The loss of function of this gene leads to uncontrolled cell growth and tumor development. The exact mechanism by which SMARCB1 mutations lead to rhabdoid tumors is still under investigation.
 ==Diagnosis==
-Diagnosis of MRT typically involves a combination of [[imaging studies]], such as [[CT scan]]s or [[MRI]]s, and [[biopsy]] of the tumour. The diagnosis is confirmed by the presence of rhabdoid cells in the biopsy sample.
+The diagnosis of malignant rhabdoid tumour is typically made through a combination of imaging studies and histological examination. Imaging studies such as [[MRI]] or [[CT scan]] can help identify the presence and extent of the tumor. A biopsy is necessary to confirm the diagnosis, with histological analysis revealing the characteristic rhabdoid cells.
 ==Treatment==
-Treatment for MRT usually involves a combination of [[surgery]], [[chemotherapy]], and [[radiation therapy]]. The goal of treatment is to remove or shrink the tumour and prevent it from spreading to other parts of the body. Despite aggressive treatment, the prognosis for MRT is generally poor, with a five-year survival rate of less than 30%.
+Treatment for MRT often involves a combination of surgery, chemotherapy, and radiation therapy. Surgical resection of the tumor is usually attempted, followed by chemotherapy regimens that may include agents such as [[vincristine]], [[doxorubicin]], and [[cyclophosphamide]]. Radiation therapy may be used to target residual disease.
-==Research==
+==Prognosis==
-Research into MRT is ongoing, with scientists working to better understand the genetic changes that lead to this disease and to develop more effective treatments. Clinical trials are also being conducted to test new therapies for MRT.
+The prognosis for patients with malignant rhabdoid tumour is generally poor, with a high rate of recurrence and metastasis. The overall survival rate is low, particularly for tumors that occur outside the kidney. Early detection and aggressive treatment are critical for improving outcomes.
-[[Category:Cancer]]
+==Related pages==
+* [[Wilms' tumor]]
+* [[Neuroblastoma]]
+* [[Pediatric oncology]]
+[[Category:Rare cancers]]
 [[Category:Pediatric cancers]]
-[[Category:Rare diseases]]
+[[Category:Aggressive cancers]]
-{{Medicine-stub}}