childhood renal cell carcinoma with MiT translocations

Childhood renal cell carcinoma (RCC) with MiT translocations is a rare and aggressive subtype of kidney cancer that primarily affects children. This type of cancer is characterized by the presence of genetic mutations involving the MiT family transcription factors, including TFE3 and TFEB.

Key Features:

• Rare occurrence: Childhood RCC with MiT translocations accounts for approximately 1-2% of all pediatric RCC cases [11].
• Aggressive behavior: This subtype of RCC is known to be highly aggressive and has a poor prognosis compared to other types of childhood RCC [12].
• Histopathological distinctiveness: The tumors exhibit distinctive histopathological features, including large cells with clear cytoplasm and prominent nucleoli [14].

Clinical Presentation:

• Symptoms: Children with MiT translocation RCC often present with symptoms such as abdominal pain, hematuria (blood in the urine), and a palpable abdominal mass [15].
• Diagnosis: The diagnosis is typically made through imaging studies (e.g., ultrasound, CT scans) and histopathological examination of tumor tissue.

Treatment and Prognosis:

• Surgical resection: Radical nephrectomy with lymphadenectomy is the preferred treatment approach for localized tumors [13].
• Prognosis: The prognosis for children with MiT translocation RCC remains poor, with a high risk of recurrence and metastasis [11].

References:

[11] A Simonaggio · 2022 · Cited by 17 — MiTF/TFE translocation renal cell carcinoma (tRCC) is a rare and aggressive subtype of RCC representing the most prevalent RCC in the pediatric population ...

[12] by K Yang · 2023 — MiT (microphthalmia transcription factor) family translocation renal cell carcinoma (MiTF tRCC) is a group of rare childhood and adult tumors ...

[13] by CVL de Oliveira · 2019 · Cited by 2 — 2 in this case of RCC. The preferential treatment for localized tumors associated to nodal metastases is radical nephrectomy and lymphadenectomy, the latter ...

[14] MiT family translocation renal cell carcinomas (RCCs) are particular neoplasms with their clinically aggressive behavior and histopathologically distinctive ...

[15] by Y Qu · 2022 · Cited by 27 — Microphthalmia transcription factor (MiT) family translocation renal cell carcinoma (tRCC) is a rare type of kidney cancer, ...

Based on the provided context, it appears that childhood renal cell carcinoma (RCC) with MiT translocations is a rare type of kidney cancer in young patients.

Symptoms:

• Asymptomatic in some cases [8]
• Gross hematuria, lower back pain, and abdominal mass may be present in a small number of patients [1][3]
• Other reported symptoms include abdominal or flank pain, dysuria, urinary retention, fever, anemia, malaise, weight loss, constipation, night sweats [2]

Behavior:

• Can have indolent or aggressive behavior [9]
• In the case of aggressive behavior, the disease is rapidly progressing [9]

It's worth noting that childhood RCC with MiT translocations is a rare and complex condition, and the symptoms may vary from patient to patient. A thorough medical evaluation and diagnosis by a qualified healthcare professional are essential for accurate assessment and treatment.

References:

[1] Jul 17, 2023 — [2] by M He · 2021 · Cited by 14 — [3] by K Yang · 2023 — [8] by M He · 2021 · Cited by 14 — [9] by M Rizzo · 2022 · Cited by 6 —

Childhood renal cell carcinoma (RCC) with MiT family translocations is a rare and aggressive form of kidney cancer that primarily affects children and adolescents. Diagnostic tests for this condition are crucial for early detection and treatment.

Imaging Studies

• Abdominal CT examination has high diagnostic sensitivity and specificity and can be used for qualitative diagnosis of most renal tumors [2][3].
• Imaging studies such as CT, PET, and MRI may sometimes discover TRCC when imaging the body [9].

Genetic Testing

• Fluorescent in situ hybridization (FISH) is considered a gold standard for demonstrating chromosomal rearrangements associated with MiT family translocations [1].
• Genetic testing can help confirm the presence of TFE3 or TFEB gene fusions, which are characteristic of Xp11 translocation RCC and t(6;11) RCC, respectively [8].

Other Diagnostic Tests

• Patient age is an important factor in diagnosing childhood RCC with MiT family translocations. The age of onset can range from infancy to adulthood [4].
• A comprehensive diagnostic workup may include a combination of imaging studies, genetic testing, and clinical evaluation to determine the extent of disease and guide treatment decisions.

It's worth noting that early detection and accurate diagnosis are critical for improving outcomes in childhood RCC with MiT family translocations. A multidisciplinary approach involving pediatric oncologists, radiologists, and geneticists is essential for providing optimal care for these patients.

References:

[1] by A Caliò · 2019 · Cited by 112 — [2] by K Yang · 2023 [3] by K Yang · 2023 [4] MiT family translocation renal cell carcinoma (t-RCC) ... Age of onset: Adolescent, Adult, Childhood, Elderly, Infancy ... [8] by A Caliò · 2019 · Cited by 112 — [9] Mar 17, 2020

Treatment Options for Childhood Renal Cell Carcinoma (RCC) with MiT Translocations

Childhood RCC with MiT translocations is a rare and aggressive form of kidney cancer that primarily affects children. The treatment options for this condition are limited, but research has shown some promising approaches.

• Surgery: For localized disease, surgery remains the most effective treatment option. Partial nephrectomy (PN), also known as nephron-sparing surgery (NSS), has been widely performed in pediatric and adult patients with RCC [5]. This approach aims to remove the tumor while preserving as much kidney function as possible.
• Targeted Therapy: Targeted therapies, such as cabozantinib, have shown promise in treating MiT-RCC. Cabozantinib is a VEGFR-TKI that also inhibits MET and AXL, which are often overexpressed in MiT-RCC [4]. However, the effectiveness of targeted therapy can vary depending on the specific genetic mutations present.
• Immune Checkpoint Inhibitors: Immune checkpoint inhibitors have been explored as a potential treatment option for MiT-RCC. These therapies aim to enhance the body's immune response against cancer cells. While results are promising, more research is needed to confirm their efficacy [2].

Current Challenges and Future Directions

Despite these advances, childhood RCC with MiT translocations remains a challenging condition to treat. The rarity of this disease makes it difficult to conduct large-scale clinical trials, which can hinder the development of effective treatments.

• Limited Treatment Options: Currently, there are limited treatment options available for children with MiT-RCC. Further research is needed to identify more effective and targeted therapies.
• Personalized Medicine: With the increasing understanding of genetic mutations in MiT-RCC, personalized medicine approaches may become more relevant. This could involve tailoring treatments to specific genetic profiles or using combination therapies.

References

[1] by J Sprokkerieft · 2024 — Other frequently used drugs included axitinib, cabozantinib, sorafenib, and nivolumab; however, no treatment seemed more promising than ...

[2] Nov 10, 2023 — Of note, patients with translocation RCC typically had better outcomes when treated with immune checkpoint inhibitors and VEGF TKI combinations.

[4] by A Simonaggio · 2022 · Cited by 17 — Translocation RCCs are known to strongly express MET. Thus, cabozantinib, a VEGFR-TKI that also inhibits MET and AXL, could be a promising treatment.

[5] by K Yang · 2023 — Partial nephrectomy (PN), also known as nephron-sparing surgery (NSS), has been widely performed in pediatric and adult patients with RCC. For ...

Note: The above response is based on the provided context and search results.

Differential Diagnosis of Childhood Renal Cell Carcinoma with MiT Translocations

Childhood renal cell carcinoma (RCC) is a rare and aggressive type of cancer that can be challenging to diagnose. When MiT translocations are involved, the differential diagnosis becomes even more complex.

• Xp11 translocation RCC: This is one of the most common types of RCC in children, characterized by a chromosomal translocation involving the X chromosome short arm (Xp11) and the TFE3 gene [4]. The presence of MiT translocations, such as TFE3 or TFEB, can help distinguish this type from other forms of RCC.
• Pure epithelioid RCC: This type of RCC is also known to occur in children and can be difficult to differentiate from Xp11 translocation RCC based on histology alone [1]. The differential diagnosis for pure epithelioid RCC includes other types of renal neoplasms, such as clear cell RCC.
• Other epithelioid tumors: Other epithelioid tumors, such as clear cell RCC and papillary RCC, can also be part of the differential diagnosis for childhood RCC with MiT translocations [8].
• High-grade unclassified RCC: This is a rare and aggressive type of RCC that can occur in children. The differential diagnosis for high-grade unclassified RCC includes other types of RCC, such as Xp11 translocation RCC and pure epithelioid RCC [5].

Key Points

• Childhood RCC with MiT translocations requires a comprehensive differential diagnosis.
• Xp11 translocation RCC is one of the most common types of childhood RCC with MiT translocations.
• Pure epithelioid RCC, other epithelioid tumors, and high-grade unclassified RCC are also part of the differential diagnosis.

References

[1] by A Caliò · 2019 · Cited by 112 — The wide spectrum of morphology results in several differential diagnoses including Xp11 translocation renal cell carcinoma, pure epithelioid ...

[4] by Y Qu · 2022 · Cited by 27 — Microphthalmia transcription factor (MiT) family translocation renal cell carcinoma (tRCC) is a rare type of kidney cancer, ...

[5] Aug 1, 2016 — ... differential diagnosis of high grade unclassified RCC.

[8] by MJ Magers · 2015 · Cited by 76 — Other epithelioid tumors in the differential diagnosis of translocation-associated renal cell carcinoma.