Immunohistochemical expression of renin and GATA3 help distinguish juxtaglomerular cell tumors from renal glomus tumors

Gupta, Sounak; Folpe, Andrew L.; Torres‐Mora, Jorge; Reuter, Victor E.; Zuckerman, Jonathan E.; Falk, Nadja; Stanton, Melissa L.; Muthusamy, Selvaraj; Smith, Steven C.; Sharma, Vidit; Sethi, Sanjeev; Herrera-Hernandez, Loren; Jimenez, Rafael E.; Cheville, John C.

doi:10.1016/j.humpath.2022.07.016

Cited by 13 publications

(6 citation statements)

References 16 publications

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“…In this particular case, the JCT was too small and entirely endophytic to be located via laparoscopy, but it was successfully identified through dynamic enhanced MRI. The pathological examination confirmed the presence of JCT, with positive CD34 and SMA markers, consistent with other reports ( 25 , 26 ). After the tumor resection, there was a notable improvement in the patient’s resistant hypertension and hypokalemia.…”

Section: Discussionsupporting

confidence: 91%

Renal venous sampling assisted the diagnosis of juxtaglomerular cell tumor: a case report and literature review

Yan,

He,

Guo

et al. 2024

Front. Oncol.

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Juxtaglomerular cell tumor (JCT) is an endocrine tumor marked by elevated renin levels and high blood pressure. This case report presents the clinical findings of a 47-year-old woman with a history of recurrent hypokalemia, headaches, hypertension, and increased plasma renin activity (PRA). Dynamic enhanced magnetic resonance imaging (MRI) revealed a small nodule on the upper part of the right kidney. Selective renal venous sampling indicated a higher PRA only in the right upper pole renal vein. The patient underwent surgical removal of the right kidney mass, and the pathology results confirmed the diagnosis of JCT. This case underscores the importance of conducting selective renal venous sampling for accurate JCT diagnosis.

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Section: Discussionsupporting

confidence: 91%

Renal venous sampling assisted the diagnosis of juxtaglomerular cell tumor: a case report and literature review

Yan,

He,

Guo

et al. 2024

Front. Oncol.

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“…The differential diagnoses entertained when dealing with a renal round cell neoplasm include the Ewing family of tumors (CD99+, NKX2.2+, ERG+, FLI1+, PAS+), Wilms tumor (WT1+, KRT+, PAX8+), desmoplastic small round cell tumor (WT1+, desmin+), intrarenal neuroblastoma (neuron-specific enolase+, CD56+, CD57+, synaptophysin+, chromogranin+), small cell carcinoma (synaptophysin+, chromogranin+, INSM1+, CD56+), hematolymphoid neoplasms (CD45+), synovial sarcoma (CD99+, TLE1+, focal S100+; KRT+, t(X;18); CD34±, STAT6−), BCOR::CCNB3 -associated round cell sarcoma (CCNB3+, BCOR+, CD99+, SATB2+, TLE1+, cyclin D1+, CD56+, BCL2+), juxtaglomerular cell tumors (CD34+, KIT+, renin+, GATA3+), glomus tumor (smooth muscle actin+, muscle specific actin+, h-caldesmon+, calponin+, CD57+), dedifferentiated liposarcoma (CDK4+, MDM2+, STAT6+), undifferentiated round cell sarcoma with CIC::DUX4 fusion (CD99+, WT1+, MYC+, ERG+, FLI1+, calretinin+), and embryonal rhabdomyosarcoma (desmin+, MyoD1+, myogenin+). 18,28 Typically, the immunopanel used to clinch a specific diagnosis in the above-mentioned setting include neither CD34 nor STAT6. Conventionally, SFTs express CD34, CD99, BCL2, epithelial membrane antigen, and STAT6; the latter has emerged as a sensitive and specific marker which identifies the NAB2::STAT6 gene fusion product.…”

Section: Discussionmentioning

confidence: 99%

Solitary Fibrous Tumor of the Kidney With Pure Round Cell Features: A Case Report With Review of Literature

Lobo,

Jha,

Kapoor

et al. 2023

Int J Surg Pathol

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Solitary fibrous tumor (SFT) is a rare mesenchymal neoplasm known to occur at various soft tissue and visceral locations. Kidney is a rarely reported site for these tumors. Most of the SFTs described in the kidney exhibit a classical CD34-positive patternless spindle cell histology. Focal round cell morphology is seldom reported. Herein, we describe a 48-year-old male patient with renal SFT. This tumor had pure round cell morphology with a CD34−/STAT6+ immunophenotype. Fluorescent in situ hybridization and a multiplexed sequencing assay performed on an Illumina® HiSeq 4000 platform revealed NAB2 and STAT6 gene rearrangement. Renal tumors with round cell morphology are diagnostically challenging and SFT is not often considered in the differential diagnosis of a round cell tumor of the kidney. Moreover, a CD34-negative profile can be rather confounding while diagnosing such lesions. In such scenarios, a strong nuclear STAT6 immunostaining is extremely helpful in clinching the diagnosis. SFT should always be considered in the differential diagnosis of round cell tumors of the kidney due to significant diagnostic and therapeutic implications.

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“…A relevant precedent in this context is driver variants in glomus tumours. These neoplasms are morphological mimics of reninoma that typically arise in nail beds from glomus body cells, which are specialised vascular cells related to juxtaglomerular cells 31 . Glomus tumours harbour driver events in NOTCH1 , its paralogues and other cancer genes that functionally converge in aberrant Notch signalling 11 .…”

Section: Discussionmentioning

confidence: 99%

Targetable NOTCH1 rearrangements in reninoma

Treger,

Lawrence,

Anderson

et al. 2023

Nat Commun

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Reninomas are exceedingly rare renin-secreting kidney tumours that derive from juxtaglomerular cells, specialised smooth muscle cells that reside at the vascular inlet of glomeruli. They are the central component of the juxtaglomerular apparatus which controls systemic blood pressure through the secretion of renin. We assess somatic changes in reninoma and find structural variants that generate canonical activating rearrangements of, NOTCH1 whilst removing its negative regulator, NRARP. Accordingly, in single reninoma nuclei we observe excessive renin and NOTCH1 signalling mRNAs, with a concomitant non-excess of NRARP expression. Re-analysis of previously published reninoma bulk transcriptomes further corroborates our observation of dysregulated Notch pathway signalling in reninoma. Our findings reveal NOTCH1 rearrangements in reninoma, therapeutically targetable through existing NOTCH1 inhibitors, and indicate that unscheduled Notch signalling may be a disease-defining feature of reninoma.

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Immunohistochemical expression of renin and GATA3 help distinguish juxtaglomerular cell tumors from renal glomus tumors

Cited by 13 publications

References 16 publications

Renal venous sampling assisted the diagnosis of juxtaglomerular cell tumor: a case report and literature review

Renal venous sampling assisted the diagnosis of juxtaglomerular cell tumor: a case report and literature review

Solitary Fibrous Tumor of the Kidney With Pure Round Cell Features: A Case Report With Review of Literature

Targetable NOTCH1 rearrangements in reninoma

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