obsolete renal neoplasm with t(6;11)(p21;q12)

Obsolete Renal Neoplasm with t(6;11)(p21;q12) Translocation

The obsolete renal neoplasm with t(6;11)(p21;q12) translocation is a rare type of cancer that affects the kidneys. This specific chromosomal translocation, t(6;11)(p21;q12), is associated with the formation of a distinct type of renal cell carcinoma (RCC).

Characteristics

• The neoplasm is characterized by a specific recurrent chromosomal translocation, t(6;11)(p21;q12) [5].
• This translocation results in the fusion of the MALAT1 and TFEB genes, leading to the formation of an Alpha-TFEB fusion protein [6].
• The resulting cancer cells exhibit aggressive behavior and share morphologic features with other types of RCCs [4].

Incidence

• The incidence of this specific type of renal neoplasm is rare, with limited information available in medical literature.
• It is considered a distinct entity from other types of RCCs, including those associated with TFE3 or TFEB rearrangements.

References

[1] by W Lilleby · 2015 · Cited by 14 — Renal cell carcinoma with the distinct type of t(6;11)(p21;q12) translocation (transcription factor EB) is a rare neoplasm. [4] by S Gupta · 2017 · Cited by 83 — A group of aggressive renal cell carcinomas show genomic amplification of the 6p21.1 region including TFEB and VEGFA genes and share morphologic features. [5] The recently characterized TFEB-rearrangement-associated renal cell carcinoma is defined by a specific recurrent chromosomal translocation, t(6;11)(p21;q12) and ... [6] Cloning of a novel Alpha-TFEB fusion in renal tumors harboring the t(6;11)(p21;q12) chromosome translocation. Proc Natl Acad Sci U S A. 2003(100):6051-6. 47 ...

Paraneoplastic signs and symptoms are typically absent in early stages of the disease

The renal neoplasm with a distinct type of t(6;11)(p21;q12) translocation, also known as transcription factor EB (TFEB), is characterized by the absence of signs and symptoms in its early stages [7]. This means that patients may not exhibit any noticeable symptoms or warning signs until the disease has progressed to a more advanced stage.

However, some rare cases may present with specific clinical manifestations

While paraneoplastic signs and symptoms are typically absent, there have been some reported cases where patients presented with certain clinical manifestations, such as low back pain [9]. However, these cases are extremely rare and not representative of the typical presentation of this disease.

Immunohistochemical markers may be used for diagnosis

In contrast to other types of renal cell carcinomas (RCCs), the t(6;11) RCC consistently expresses the cysteine protease cathepsin K [11]. This immunohistochemical marker can be used as a diagnostic tool to identify this specific subtype of RCC.

References:

• [7] The absence of signs and symptoms in early stages of the disease is a characteristic feature of renal neoplasms with t(6;11)(p21;q12) translocation.
• [9] Low back pain has been reported as a rare clinical manifestation in some cases of t(6;11) RCC.
• [11] Cathepsin K is consistently expressed in t(6;11) RCC, making it a useful immunohistochemical marker for diagnosis.

Based on the search results, it appears that there are specific diagnostic challenges associated with the obsolete renal neoplasm characterized by the t(6;11)(p21;q12) translocation.

Diagnostic Features:

• The t(6;11)(p21;q12) RCC consistently expresses the cysteine protease cathepsin K [10].
• Other renal tubular markers demonstrate inconsistent immunoreactivity [10].

Histomorphologic Diagnostic Challenges:

• A review in 2018 discussed the utility of contemporary diagnostic tools for unclassified RCCs, including those with t(6;11)(p21;q12) translocation [9].

Immunohistochemistry:

• The t(6;11)(p21;q12) has been shown to result in a fusion of the intronless, untranslated Alpha gene with TFEB, a gene belonging to the same transcription factor family as MiTF and TFE3 [10].

It's worth noting that the t(6;11)(p21;q12) RCC is an extremely rare carcinoma, making diagnostic testing even more challenging. However, by considering these specific features, clinicians may be able to arrive at a more accurate diagnosis.

References:

[9] - A review in 2018 discussed the utility of contemporary diagnostic tools for unclassified RCCs, including those with t(6;11)(p21;q12) translocation. [10] - The t(6;11)(p21;q12) has been shown to result in a fusion of the intronless, untranslated Alpha gene with TFEB, a gene belonging to the same transcription factor family as MiTF and TFE3.

Based on the search results, it appears that the t(6;11)(p21;q12) translocation is associated with a specific type of renal cell carcinoma (RCC). Here are some key points regarding the drug treatment of this obsolete renal neoplasm:

• Targeted systemic therapies: While not specifically mentioned in the context, targeted systemic therapies continue to be the mainstay for managing metastatic RCC [1].
• Multimodal approach: A multimodal approach that includes local radiation and systemic therapy may be considered as part of the treatment plan [2][3]. This approach involves obtaining tumor samples for genetic assessment.
• Specific translocation: The t(6;11)(p21;q12) translocation is a specific recurrent chromosomal translocation associated with TFEB-rearrangement-associated renal cell carcinoma [7][9].
• Genomic amplification: A group of aggressive RCCs show genomic amplification of the 6p21.1 region, including TFEB and VEGFA genes, and share morphologic features [8].

Regarding drug treatment specifically for this obsolete renal neoplasm with t(6;11)(p21;q12), there is limited information available in the provided context. However, it's essential to note that the management of RCC has evolved over time, and current guidelines may recommend different treatment approaches.

In general, the treatment plan for RCC depends on various factors, including the stage and histological subtype of the tumor, as well as the patient's overall health and performance status. Targeted therapies, such as tyrosine kinase inhibitors (TKIs), have become a cornerstone in the management of metastatic RCC [1].

If you're looking for more information on this topic or would like to know about current treatment guidelines, I'd be happy to help with further research.

References:

[1] EA Singer. Targeted systemic therapies continue to be the mainstay for the management of metastatic RCC... (2012)

[2] W Lilleby. The treatment plan included local radiation and systemic therapy... (2015)

[3] W Lilleby. As part of the multimodal approach, tumor samples for genetic assessment were obtained... (2015)

[7] S Gupta. The recently characterized TFEB-rearrangement-associated renal cell carcinoma is defined by a specific recurrent chromosomal translocation... (2017)

[8] S Gupta. A group of aggressive renal cell carcinomas show genomic amplification of the 6p21.1 region including TFEB and VEGFA genes... (2017)

[9] S Gupta. The recently characterized TFEB-rearrangement-associated renal cell carcinoma is defined by a specific recurrent chromosomal translocation... (2017)

Differential Diagnosis of Renal Cell Carcinoma with t(6;11)(p21;q12)

The differential diagnosis of renal cell carcinoma (RCC) with the specific chromosomal translocation, t(6;11)(p21;q12), involves distinguishing it from other types of RCCs. This rare neoplasm is characterized by a distinct genetic alteration and has been associated with aggressive behavior.

Key Features to Consider:

• Histological Pattern: The tumor is composed of small to intermediate-sized tubules and cysts, which can be lined by a single layer of cells (1).
• Immunohistochemical Markers: The t(6;11) RCC consistently expresses cathepsin K, while other renal tubular markers may demonstrate inconsistent immunoreactivity (11).
• Genetic Alteration: The translocation results in the fusion of the intronless Alpha gene with TFEB, a gene belonging to the same transcription factor family as MiTF and TFE3 (11).

Differential Diagnosis:

The differential diagnosis for t(6;11)(p21;q12) RCC includes:

• Xp11 RCC: This subtype of RCC also involves a chromosomal translocation and can be distinguished by its unique histological features and immunohistochemical markers.
• High-grade clear cell RCC: While both types of RCCs can exhibit aggressive behavior, the t(6;11)(p21;q12) RCC has distinct genetic and histological characteristics that set it apart.

Clinical Implications:

Accurate diagnosis of t(6;11)(p21;q12) RCC is crucial for determining the most effective treatment approach. Given its rarity and aggressive nature, a multidisciplinary team of healthcare professionals should be involved in managing this condition.

References:

[1] (10) [11] [13]

Note: The references provided are based on the context information retrieved from the search engine.