What are the other Names for this Condition? (Also known as/Symptoms)

• MFTRCCC (MiT Family Translocation Renal Cell Carcinoma in Children)
• MiT Family Translocation Kidney Cancer in Children
• Pediatric MiT Family Translocation Renal Cell Carcinoma

What is MiT Family Translocation Renal Cell Carcinoma in Children? (Definition/Background Information)

• MiT Family Translocation Renal Cell Carcinoma in Children (MFTRCCC) is a rare and aggressive type of renal cell carcinoma (kidney cancer) that develops from the renal cortex. It is a malignant tumor that develops due to an abnormality within the tissue lining in the tubules of the kidney
• By definition, MiT Family Translocation Renal Cell Carcinoma in Children has mutations involving the TFE 3 gene, TFE B gene, TFC gene, and MiTF gene. The tumor specimens can have different microscopic features when examined under a microscope
• The cause of development of MiT Family Translocation Renal Cell Carcinoma in Children is reportedly due to genetic mutations. Genetic testing may be required to establish a diagnosis of the condition. MFTRCCC generally affect both boys and girls and they form between 35% to 75% of renal cell carcinomas in children
• The risk factors for the development of MiT Family Translocation Renal Cell Carcinoma in Children are not well-established. However, some of the general risk factors for kidney tumors include a family history of the condition (that may result in hereditary MFTRCCC), smoking, exposure to toxins due to cytotoxic chemotherapy, high blood pressure, and even obesity
• The typical signs and symptoms of MiT Family Translocation Renal Cell Carcinoma in Children include blood in urine, a lump on the side (abdomen), unexplained fever, flank pain, and inexplicable weight loss. MFTRCCC may give rise to complications, such as cancer spread to other parts of the body
• The treatment options for the condition may include surgery, radiation therapy, chemotherapy, and targeted drug therapy. The prognosis of MiT Family Translocation Renal Cell Carcinoma in Children depends on a variety of factors including the type and size of tumor, whether it is localized to the kidneys or has metastasized to other body regions (if the condition is in its early stage or advanced stage, at the time of diagnosis)
• Although MiT Family Translocation Renal Cell Carcinoma in Children may not be preventable, being aware of one’s family history and having regular check-ups might help in an early diagnosis. Moreover, leading a healthy lifestyle, managing an ideal body weight, controlling blood pressure, avoiding unnecessary medication, and other such measures can help one reduce the risk for cancer formation

The main types of kidney cancers that arise from the renal cortex include:

• Clear cell renal cell carcinoma: This is also called conventional renal cell carcinoma. 65% of kidney cancers belong to this carcinoma type
• Papillary renal cell carcinoma: It is also known as chromophil renal cell carcinoma. They constitute 15% of kidney cancers. Some of these cancers can be seen in syndromes such as hereditary papillary renal cell carcinoma syndrome. A majority of individuals with this carcinoma type do not have a family history of kidney cancer
• Chromophobe renal cell carcinoma: They make up for 5% of the kidney cancers. Usually, it is a slower-growing cancer when compared to other kidney cancers
• Collecting duct carcinoma of kidney: They are rare and make up for approximately 1% of the kidney cancers. This cancer arises from the collecting ducts of the kidney

Who gets MiT Family Translocation Renal Cell Carcinoma in Children? (Age and Sex Distribution)

• MiT Family Translocation Renal Cell Carcinoma in Children affects both boys and girls
• However, the condition is reported to be more common in girls
• The cancer is not specific to any particular ethnic or racial group and all races/ethnic groups are affected

What are the Risk Factors for MiT Family Translocation Renal Cell Carcinoma in Children? (Predisposing Factors)

In a majority of children, no well-defined risk factors for MiT Family Translocation Renal Cell Carcinoma in Children have been identified. Some studies have shown that the following may predispose an individual to MFTRCCC or kidney cancer development:

• Family history of MiT Family Translocation Renal Cell Carcinoma in Children: If the cancer is present among close family members, then the risk for developing the same is increased
• Obesity
• High blood pressure (hypertension)
• Exposure to toxins, such as naphthylamine dye, asbestos, lead, polycyclic aromatic hydrocarbons, cadmium, and other chemical compounds
• Continuous use of certain medications such as non-steroidal anti-inflammatory drugs (NSAIDs)
• Long-term dialysis

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one’s chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your health care provider.

What are the Causes of MiT Family Translocation Renal Cell Carcinoma in Children? (Etiology)

Currently, scientists do not know the definitive factor(s) causing MiT Family Translocation Renal Cell Carcinoma in Children (MFTRCCC). The cause of tumor development is being researched into; several genetic mutations have been detected. It is believed that these may be responsible for tumor development.

The genetic mutations include:

• MFTRCCC, by definition, involves fusion gene mutation involving the TFE3 gene and TFEB gene
• Other fusion products include fusion between:
  • TFE3 gene (on Xpll) and ASPL gene (17q25)
  • TFE3 gene and PRCC gene (1q21)
  • TFE3 gene and NONO gene (Xq12)
  • PSF gene and SFPQ gene (1p34)
  • TFE3 gene and CLTC gene (17q23)
• Translocation between chromosome TFEB gene and MALAT 1 gene causing t(6;11)(p21;q12)
• Translocation between TFE3 gene and ASPL gene causing t (X:17)(P11-2; q25)

What are the Signs and Symptoms of MiT Family Translocation Renal Cell Carcinoma in Children?

The signs and symptoms associated with MiT Family Translocation Renal Cell Carcinoma in Children may vary from one individual to another. Small tumors usually do not cause any significant symptoms; but occasionally may cause pain, if they compress the surrounding structures. Many tumors are known to present metastasis at the time of diagnosis.

The signs and symptoms of MFTRCCC can include:

• Blood in urine (hematuria)
• Fatigue due to anemia
• Flank pain
• A visible lump may be seen on the side of the abdomen (if the tumor is large)
• Fluid accumulation in the lower legs (or pedal edema)
• Unexplained fever and night sweats
• Unexplained weight loss 
• Generalized weakness and pain in the body
• Increased blood pressure (hypertension)

Lab tests may reveal the following:

• Increased platelet count (thrombocytosis)
• Increased calcium in blood (hypercalcemia)
• Abnormal liver function tests
• Increased number of red blood cells (erythrocytosis) 

The signs and symptoms may also depend on the size of the kidney tumor.

How is MiT Family Translocation Renal Cell Carcinoma in Children Diagnosed?

A physician might employ one or several of the following tools to arrive at a diagnosis of MiT Family Translocation Renal Cell Carcinoma in Children:

• Evaluation of the patient’s personal and family medical history
• A complete physical examination and assessment of the presenting signs and symptoms, if any
• Blood tests including albumin level, hematocrit, complete blood count (CBC), and serum calcium levels
• Urine analysis including urine albumin level
• Liver function tests
• Plain X-ray of the abdomen
• Ultrasound scan of the abdomen
• Computed tomography (CT) scans of the kidneys
• Magnetic resonance imaging (MRI) and positron emission tomography (PET) scans may help differentiate between benign versus malignant tumors by detecting areas of metastasis (if any present)

Although the above modalities can be used to make an initial diagnosis, a tissue biopsy of the tumor may be required to make a definitive diagnosis to begin treatment of the condition.

• The tissue for diagnosis can be procured in multiple different ways, and they include:
  • Fine needle aspiration (FNA) biopsy of the tumor: An FNA biopsy may not be helpful, because one may not be able to visualize the different morphological areas of the tumor. Hence, FNA biopsies as diagnostic tools have certain limitations, and open surgical biopsies are preferred
  • Core biopsy of the tumor is often helpful
  • Open biopsy of the tumor
• A tissue biopsy of the tumor is performed and sent to a laboratory for a pathological examination. A pathologist examines the biopsy under a microscope. After putting together clinical findings, special studies on tissues (if needed) and with microscope findings, the pathologist arrives at a definitive diagnosis. Examination of the biopsy under a microscope by a pathologist is considered to be gold standard in arriving at a conclusive diagnosis
• Biopsy specimens are studied initially using Hematoxylin and Eosin staining. The pathologist then decides on additional studies depending on the clinical situation
• Sometimes, the pathologist may perform special studies, which may include immunohistochemical stains, molecular testing, and very rarely electron microscopic studies, to assist in the diagnosis
• The differential diagnosis for MFTRCCC may include:
  • Chromophobe eosinophilia variant RCC
  • Papillary RCC with focal clear cell change
  • Clear cell papillary RCC

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of MiT Family Translocation Renal Cell Carcinoma in Children?

The possible complications associated with MiT Family Translocation Renal Cell Carcinoma in Children include:

• Renal dysfunction due to large-sized tumors
• The tumor can affect both the kidneys
• Metastasis: The cancer can spread to other areas/organs of the body severely compromising their function
• Recurrence of the tumor following treatment
• Emotional and psychological stress due to cancer diagnosis (to both the child and the parents/caretakers)
• Side effects due to cancer therapy; complications may arise from surgery to treat the condition

How is MiT Family Translocation Renal Cell Carcinoma in Children Treated?

The treatment of MiT Family Translocation Renal Cell Carcinoma in Children may depend upon a consideration of the following set of factors:

• The stage of the cancer
• Size and location of the tumor
• Severity of the signs and symptoms
• Age and overall health status of the child
• The treatment preferences

The treatment measures for MiT Family Translocation Renal Cell Carcinoma in Children may include the following:

• Surgery:
  • In majority of children, surgical resection of the tumor with clear margins may result in a cure, especially if the tumor is confined to the kidneys. In some cases, due to location of the tumor, a complete surgical removal may be difficult
  • Several different surgical procedures may be available, such as partial/radical nephrectomy or laparoscopic surgery, depending on the type, size, and location of the tumor
  • Post-operative care is important: One must maintain minimum activity levels until the surgical wound heals
• Radiation therapy:
  • Radiotherapy can be used as primary therapy in situations where the tumor cannot be removed completely, or when the tumor reappears (recurrent MFTRCCC) after surgery
  • Radiotherapy can also be used as an additional therapy tool after surgery, if there is a possibility of tumor recurrence, or if there are inadequate margins following surgery (possibility of residual tumor being left behind)
• Chemotherapy can be used for treating MiT Family Translocation Renal Cell Carcinoma in Children under the following circumstances:
  • The tumor cannot be removed completely (incomplete surgical resection)
  • Tumors that recur after surgery (recurrent MFTRCCC)
  • Tumors that have spread to distant parts of the body (metastatic MFTRCCC)
• Immunotherapy for MiT Family Translocation Renal Cell Carcinoma in Children: A patient’s immune system is activated to combat the cancer in this kind of therapy
• Targeted drug therapy for MiT Family Translocation Renal Cell Carcinoma in Children: This kind of drug treatment targets and kills cancer cells specifically, not harming the surrounding normal/healthy cells. The use of mTOR and tyrosine kinase inhibitors (TKIs) may be beneficial
• Arterial embolization of MiT Family Translocation Renal Cell Carcinoma in Children is a possible treatment option. Here, the blood supply to the tumor is blocked resulting in tumor death

A long-term follow-up is required, because recurrence of the tumor at the site of surgery or metastasis in distant sites have been reported many years after surgery.

How can MiT Family Translocation Renal Cell Carcinoma in Children be Prevented?

• Current medical research has not established a method of preventing Pediatric MiT Family Translocation Renal Cell Carcinoma formation
• Regular health check-up may help those individuals with a family history of the condition and help diagnose MiT Family Translocation Renal Cell Carcinoma in Children early
• Regular medical screening at periodic intervals with blood tests, radiological scans, and physical examinations for those who have already endured the tumor are helpful

In general, preventive methods for MFTRCCC include reducing the contributory risk factors such as:

• Unhealthy diet and lifestyle
• Obesity
• Exposure to toxins
• Use of unnecessary medication
• Smoking

What is the Prognosis of MiT Family Translocation Renal Cell Carcinoma in Children? (Outcomes/Resolutions)

The prognosis of MiT Family Translocation Renal Cell Carcinoma in Children depends on the size and number of tumors, their localization (whether still confined to the kidneys) and spread to near and distant sites. In general, MFTRCCC is a more aggressive tumor with poor prognosis.

• Surgical resectability of the tumor: The most reliable prognostic factor of MiT Family Translocation Renal Cell Carcinoma in Children is dependent on whether the tumor can be completely removed through surgery with free margins or not (i.e., whether any traces of the tumor remain in the adjoining tissues or not)
• The prognosis of MFTRCCC also depends upon a set of several factors, which include:
  • Stage of tumor: With lower-stage tumors, when the tumor is confined to the site of origin, the prognosis is usually excellent with appropriate therapy. In higher-stage tumors, such as tumors with metastasis, the prognosis is poor
  • Overall health of the individual: Individuals with overall excellent health have better prognosis compared to those with poorer health
  • Having chromosomal translocation t(6;11)(p21;q12) may indicate a better prognosis when compared to other mutation(s)
  • Whether the tumor is occurring for the first time or is a recurrent tumor. Recurring tumors have worse prognosis compared to tumors that do not recur
  • Response to treatment. Tumors that respond to treatment have better prognosis compared to tumors that do not respond to treatment
• When MFTRCCC is diagnosed in the early stages, the possibility of survival increases, and the prognosis is generally considered good with treatment
• In cases where both kidneys are affected, the prognosis is not projected to be favorable. Additionally, if the cancer has spread to other parts of the body, such as to the liver, lungs, or bone, prolonged survival following diagnosis and treatment is generally limited
• Overall, the prognosis of MFTRCCC is generally worse than papillary renal cell carcinoma and other subtypes

As with any malignant conditions, it is important to have regular follow-up appointments with a healthcare provider to monitor for any returning tumors.

Additional and Relevant Useful Information for MiT Family Translocation Renal Cell Carcinoma in Children:

• The term “MiT” denotes microphthalmia-associated transcription factors

The following article link will help you understand other cancers and benign tumors:

http://www.dovemed.com/diseases-conditions/cancer/