Mutated ASXL1 upregulates mTOR expression in renal cell carcinoma with fibromyomatous stroma

Article Pathology

TSC/MTOR mutated renal cell carcinoma with leiomyomatous stroma is a distinct entity: a comprehensive study of 12 cases

Melissa Y. Tjota et al.

Summary: The 2022 WHO classification recognizes RCC-LS as a distinct entity, but does not address other renal tumors with smooth muscle stroma. This study reviewed >500 cases of RCC with clear cell phenotype and identified 12 cases with prominent smooth muscle stroma. Molecular diagnostic studies can help in diagnosing TSC/MTOR associated RCC-LS.

HUMAN PATHOLOGY (2023)

添加到收藏夹

Article Pathology

Biallelic ELOC-Inactivated Renal Cell Carcinoma: Molecular Features Supporting Classification as a Distinct Entity

Aashil A. Batavia et al.

Summary: This study characterizes 123 renal tumors with clear cell morphology and known VHL mutation status to assess the morphologic and molecular consequences of ELOC inactivation. The presence of ELOC mutations in renal cell carcinoma (RCC) is associated with a novel subtype of renal cancer, with distinct molecular characteristics compared to VHL mutations. These findings support the emergence of a new molecularly defined tumor entity.

MODERN PATHOLOGY (2023)

添加到收藏夹

Review Pathology

Renal Cell Carcinoma With Fibromyomatous Stroma-The Whole Story

Rajal B. Shah

Summary: Recent studies have confirmed that RCCFMS is a distinct subtype of renal cell carcinoma with unique morphological, immunohistochemical, and molecular characteristics. It can be differentiated from other RCC subtypes and exists in both hereditary and sporadic forms.

ADVANCES IN ANATOMIC PATHOLOGY (2022)

添加到收藏夹

Review Biochemistry & Molecular Biology

Molecular Classification and Overcoming Therapy Resistance for Acute Myeloid Leukemia with Adverse Genetic Factors

Daisuke Ikeda et al.

Summary: The European LeukemiaNet (ELN) criteria define the adverse genetic factors of acute myeloid leukemia (AML), which are associated with resistance to standard chemotherapy and poor prognosis. Different adverse genetic factors often rely on common pathways and can be found in at least one in eight AML patients. TP53 mutation is particularly associated with poor prognosis.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2022)

添加到收藏夹

Article Pathology

Analysis of clinicopathological and molecular features of ELOC (TCEB1)-mutant renal cell carcinoma

Yan Wang et al.

Summary: ELOC(TCEB1)-mutant renal cell carcinoma is a rare type of renal cell carcinoma that mainly occurs in middle-aged and elderly men, with distinct clinicopathological and molecular characteristics.

PATHOLOGY RESEARCH AND PRACTICE (2022)

添加到收藏夹

Article Urology & Nephrology

The Clinicopathologic and Molecular Landscape of Clear Cell Papillary Renal Cell Carcinoma: Implications in Diagnosis and Management

Stanley Weng et al.

Summary: CCPRCC patients exhibit higher proportion of females and African-Americans, more likely to have additional ipsilateral masses and bilateral disease compared to ccRCC tumors. Molecularly, CCPRCC tumors show fewer somatic aberrations and greater mitochondrial DNA depletion. In multifocal CCPRCC tumors, histologic concordance is estimated at 44%, with patients exclusively presenting with CCPRCC tumors showing no metastatic disease after 5 years.

EUROPEAN UROLOGY (2021)

添加到收藏夹

Article Pathology

Renal cell carcinoma with leiomyomatous stroma in tuberous sclerosis complex: a distinct entity

Marjorie Gournay et al.

Summary: Renal cell carcinoma with leiomyomatous stroma (RCCLS) is a newly emerging entity frequently associated with tuberous sclerosis complex (TSC). This study describes the morphological, immunohistochemical, and cytogenetic characteristics of RCCLS in TSC patients, suggesting it could be a distinct entity and a sentinel presentation for the diagnosis of TSC.

VIRCHOWS ARCHIV (2021)

添加到收藏夹

Article Pathology

Novel, emerging and provisional renal entities: The Genitourinary Pathology Society (GUPS) update on renal neoplasia

Kiril Trpkov et al.

Summary: The Genitourinary Pathology Society conducted a review focusing on recent advances in renal neoplasia, underscoring the importance of both morphology and molecular features for accurate diagnosis. They proposed new criteria for categorizing novel, emerging, and provisional entities in order to clarify the evolving classification of renal neoplasia and reduce the number of unclassifiable cases.

MODERN PATHOLOGY (2021)

添加到收藏夹

Article Multidisciplinary Sciences

Mutant ASXL1 induces age-related expansion of phenotypic hematopoietic stem cells through activation of Akt/mTOR pathway

Takeshi Fujino et al.

Summary: ASXL1 mutations are frequently detected in age-related clonal hematopoiesis (CH), but their mechanism in driving CH remains unclear. The study demonstrates that expression of C-terminal truncated ASXL1 in hematopoietic stem cells leads to Akt de-ubiquitination, activated Akt/mTOR signaling, and aberrant HSC proliferation.

NATURE COMMUNICATIONS (2021)

添加到收藏夹

Article Pathology