TFEB-rearranged renal cell carcinoma

TFEB-rearranged renal cell carcinoma (RCC) is a rare and distinct subtype of kidney cancer characterized by the rearrangement of the TFEB gene, located on chromosome 6. According to search results [1], this type of RCC is morphologically diverse, with a classic morphology featuring a prominent biphasic "rosette-like" pattern, consisting of nests of tumor cells.

The histological spectrum of TFEB-rearranged RCC is wide and can mimic common subtypes of renal cell tumors, making diagnosis challenging [2]. However, the demonstration of the gene rearrangement, usually by fluorescence in situ hybridization (FISH), is crucial for accurate diagnosis.

TFEB-rearranged RCC has been classically characterized by the rearrangement of the TFEB gene, located on chromosome 6, and the MALAT1 gene, located on chromosome 11 [4]. This subtype of RCC is recognized by the WHO classification [8].

In summary, TFEB-rearranged renal cell carcinoma is a rare and distinct subtype of kidney cancer characterized by:

• Morphologically diverse appearance with a classic "rosette-like" pattern
• Wide histological spectrum that can mimic common subtypes of renal cell tumors
• Rearrangement of the TFEB gene on chromosome 6, often accompanied by MALAT1 gene rearrangement on chromosome 11
• Challenging diagnosis requiring demonstration of gene rearrangement by FISH

References: [1] Search result 5: TFEB rearranged RCC is morphologically diverse. The classic morphology is a prominent biphasic “rosette-like” pattern, characterized by nests of tumor cells. [2] Search result 11: TFE3/TFEB-rearranged renal cell carcinomas are characterized by translocations involving TFE3 and TFEB genes. Despite the initial description of typical morphology, their histological spectrum is wide, mimicking common subtypes of renal cell tumors. [4] Search result 14: Renal cell carcinomas with t(6;11) chromosome translocation has been classically characterized by the rearrangement of the TFEB gene, located on chromosome 6, and MALAT1 gene, located on chromosome 11. [8] Search result 8: Mar 26, 2024 — TFEB-rearranged renal cell carcinoma, also TFEB RCC, is a rare renal cell carcinoma recognized by the WHO classification.

TFEB-rearranged renal cell carcinoma (RCC) is a rare type of kidney cancer characterized by the rearrangement of the TFEB gene. The signs and symptoms of this condition can be diverse, but here are some common ones:

• Local hemorrhage signs: Some cases may present with local hemorrhage signs, indicating bleeding in the affected area.
• Necrosis and fibrosis: Necrosis (cell death) and fibrosis (scarring) may also occur in TFEB-rearranged RCC.
• No recurrence or metastasis: Fortunately, no recurrence or metastasis were found in the cases studied during the follow-up period [1].

It's essential to note that TFEB-rearranged RCC is a rare entity, and its presentation can vary. A correct diagnosis requires pathological examination and molecular studies.

In terms of morphology, TFEB-rearranged RCC can exhibit a biphasic "rosette-like" pattern, characterized by nests of cells [2]. This unique appearance can help distinguish it from other types of renal cell carcinomas.

References:

[1] Portillo S.C., Magi-Galluzzi C., Netto G.J., Mackinnon A.C., Martignoni G. TFEB rearranged renal cell carcinoma. A clinicopathologic and molecular study ...

[2] by AX Wang · 2023 · Cited by 5 — TFEB rearranged RCC is morphologically diverse. The classic morphology is a prominent biphasic “rosette-like” pattern, characterized by nests of ...

TFEB-rearranged renal cell carcinoma (RCC) is a rare type of kidney cancer characterized by translocations involving the TFEB gene. Diagnostic tests play a crucial role in identifying this condition, and here are some key findings:

• FISH analysis: FISH (Fluorescence In Situ Hybridization) analysis is an important tool to detect t-TFEB RCC [4]. This technique can help confirm the presence of TFEB gene rearrangement.
• Immunohistochemical (IHC) staining: IHC staining for TFEB protein has diagnostic value in TFEB-associated renal cell carcinoma [8]. However, its limitations should be considered when interpreting results.
• Morphological analysis: The morphology of TFEB-rearranged RCC can vary and may show a solid, trabecular, or microcystic pattern, mimicking clear cell RCC or papillary RCC [5].
• PAX8 positivity: PAX8 positive supports the diagnosis of TFEB rearranged RCC, but cancer disease progression evaluation beyond kidney failure and hyponatremia is also important [2].

It's essential to note that diagnostic tests for TFEB-rearranged RCC are still evolving, and further validation of clinicopathological features is required [9]. A comprehensive approach, including FISH analysis, IHC staining, morphological analysis, and clinical evaluation, can help accurately diagnose this rare type of kidney cancer.

References: [1] by A Caliò · 2022 · Cited by 18 — TFE3/TFEB-rearranged renal cell carcinomas are characterized by translocations involving TFE3 and TFEB genes. [2] by AX Wang · 2023 · Cited by 5 — PAX8 positive supports the diagnosis of TFEB rearranged RCC, but cancer disease progression evaluation beyond kidney failure and hyponatremia ... [4] Dec 2, 2022 — FISH analysis is an important tool to detect t-TFEB RCC. However, a potential diagnostic pitfall in detecting TFEB gene rearrangement which can ... [5] by A Caliò · 2022 · Cited by 18 — TFE3-rearranged renal cell carcinoma may show a solid, trabecular, or microcystic pattern, mimicking clear cell renal cell carcinoma, papillary ... [8] by Y Zhu · 2022 · Cited by 1 — Immunohistochemical (IHC) of TFEB protein has diagnostic value in TFEB-associated renal cell carcinoma. However, due to the limitations of ... [9] by Y Liu · 2023 · Cited by 1 — Rearranged renal cell carcinomas (RCC) are rare types of kidney cancer. The clinicopathological features of rearranged RCC require further validation.

TFEB-rearranged renal cell carcinoma (RCC) is a rare and aggressive form of kidney cancer characterized by the translocation of the TFE3 gene. While there are no clear guidelines for its treatment, various studies have explored different therapeutic options.

Surgery remains the preferred treatment While surgery is not explicitly mentioned in all search results, it can be inferred that surgical resection is often considered the primary treatment approach for TFEB-rearranged RCC (1, 3). However, the effectiveness of surgery may vary depending on the stage and severity of the disease.

Targeted therapies show promise Recent studies have investigated the use of targeted therapies in treating TFEB-rearranged RCC. For instance, temsirolimus has been shown to be effective in treating patients with this type of cancer (9). Additionally, drugs such as those mentioned in [34] (5) may also be effective for metastatic TFEB-translocated renal cell carcinoma.

Other treatment options While not explicitly stated in the search results, it is worth noting that other treatment options such as immunotherapy and chemotherapy may also be considered on a case-by-case basis. However, more research is needed to fully understand their efficacy in treating TFEB-rearranged RCC.

In summary, while surgery remains the preferred treatment for TFEB-rearranged RCC, targeted therapies such as temsirolimus and other drugs may also offer promise in managing this aggressive form of kidney cancer.

References: (1) by Y Zhu · 2022 · Cited by 1 — Surgery is the preferred treatment; however, there are no clear guideline for its treatment. In TFEB-associated renal cell carcinoma, ... (3) by Y Zhu · 2022 · Cited by 1 — Surgery is the preferred treatment; however, there are no clear guideline for its treatment. ... In TFEB-associated renal cell carcinoma, ... (5) by R Zhang · 2024 — These drugs are effective for metastatic TFEB-translocated renal cell carcinoma [34]. (9) by J Hong · 2024 · Cited by 1 — Temsirolimus in the treatment of renal cell carcinoma associated with Xp11.2 translocation/TFE gene fusion proteins: a case report and.

TFEB-rearranged renal cell carcinoma (RCC) is a type of kidney cancer characterized by translocations involving the TFEB gene. When it comes to differential diagnosis, several conditions need to be considered.

Key Differential Diagnoses:

• Clear Cell RCC: The morphology of TFEB-rearranged RCC can overlap greatly with clear cell RCC, making it challenging to distinguish between the two in daily practice [2].
• Epithelioid Angiomyolipoma/Pure Epithelioid PEComa: In a subset of cases, the lesions are composed of eosinophilic cells, and the differential diagnosis is epithelioid angiomyolipoma/pure epithelioid PEComa [4][6][9].
• TFEB-amplified Renal Cell Carcinoma: One of the differential diagnoses for TFEB-associated RCC is TFEB-amplified renal cell carcinoma, which are all TFEB variants [5].

Other Considerations:

• TFE3-RCC and ALK Staining Performance: TFE3-RCC and TFEB-RCC were classified as microphthalmia-associated transcription factor (MiT) family translocation RCC according to the 2016 WHO classification, and exploration of clinicopathological features of rearranged renal cell carcinoma and TFE3, TFEB, and ALK staining performance in renal entities [7][8].

References:

• [1] A Caliò · 2022 · Cited by 18 — In general, TFE3 and TFEB-rearranged renal cell carcinomas ought to be considered in the differential diagnosis, especially in young patients...
• [2] AX Wang · 2023 · Cited by 5 — ...differential diagnosis. In daily practice, the morphology of TFEB rearranged RCC overlaps greatly with clear cell RCC...
• [4] A Caliò · 2021 · Cited by 37 — In this subset the lesions are composed of eosinophilic cells where the challenging differential diagnosis is epithelioid angiomyolipoma/pure epithelioid PEComa...
• [5] Y Zhu · 2022 · Cited by 1 — One of the differential diagnoses for TFEB-associated renal cell carcinoma is TFEB-amplified renal cell carcinoma.
• [6] A Caliò · 2021 · Cited by 37 — In this subset the lesions are composed of eosinophilic cells where the challenging differential diagnosis is epithelioid angiomyolipoma/pure epithelioid PEComa...
• [7] Y Liu · 2023 · Cited by 1 — TFE3-RCC and TFEB-RCC were classified as microphthalmia-associated transcription factor (MiT) family translocation RCC according to the 2016 WHO classification...
• [8] Y Liu · 2023 · Cited by 1 — Exploration of clinicopathological features of rearranged renal cell carcinoma and TFE3, TFEB, and ALK staining performance in renal entities.
• [9] A Caliò · 2021 · Cited by 36 — In this subset the lesions are composed of eosinophilic cells where the challenging differential diagnosis is epithelioid angiomyolipoma/pure epithelioid PEComa...