<scp>PNL</scp>2: an adjunctive biomarker for renal angiomyolipomas and perivascular epithelioid cell tumours

Gulavita, Previn; Fletcher, Christopher D.�M.; Hirsch, Michelle S.

doi:10.1111/his.13369

Cited by 25 publications

(15 citation statements)

References 21 publications

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“…The majority of EAML cases display membranous and cytoplasmic staining of E-cadherin, whereas classic AML cases demonstrate cytoplasmic staining alone (20). Moreover, in diagnostically challenging cases, staining for CD68 (PG-M1) (21) and PNL2 (22) may be helpful in distinguishing renal EAML form other renal tumors.…”

Section: Discussionmentioning

confidence: 99%

Late local, peritoneal and systemic recurrence of renal angiomyolipoma: A case report

et al. 2018

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Renal angiomyolipoma (AML) is a relatively rare tumor that is generally considered as merely benign. However, epithelioid AML (EAML), an uncommon subtype, is associated with potentially malignant behavior. We herein present the case of a 60-year old male patient who had undergone left nephrectomy with left adrenalectomy and lymphadenectomy for a renal tumor 12 years earlier, and presented to our hospital with dull abdominal pain. The histology report after the previous surgery had revealed an AML of the left kidney with a maximal diameter of 17 cm. Imaging studies demonstrated a large tumor of 13 cm in diameter in the area of the resected kidney, as well as hepatic and peritoneal metastases. Computed tomography-guided core needle biopsy of the mass and revision of the histology of the nephrectomy revealed an EAML. Four years after a two-stage resection of the recurrences the patient is in excellent condition and free of disease. From this case report and the literature review on EAML, it appears that correct histological diagnosis of this subtype of renal AML is crucial. Erroneous diagnosis of simple renal AML instead of EAML may lead to insufficient postoperative management. Clinicians should be aware of the malignant potential of EAML and the need for long-term follow-up. As effective surgical and emerging medical treatment options are available, timely detection of recurrent disease may lead to improved outcome.

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Section: Discussionmentioning

confidence: 99%

Late local, peritoneal and systemic recurrence of renal angiomyolipoma: A case report

et al. 2018

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“…Among additional PEComa markers cathepsin K is mentioned; its expression was observed in all analysed cases [45,47], and transcriptional factor TFE3 (transcription factor binding to IGHM enhancer 3) was observed in 29-38% of cases regardless of the rearrangement of the TFE3 gene [36,44]. PNL2 has been proposed as a new marker with high sensitivity and specificity in the differentiation of PEComa and AML (expression described in 89% of cases) from other neoplasms derived from kidneys, which do not express this marker [48]. In immunohistochemical analysis PEComas also stain positive for vimentin, CD-31, and CD-34 and are negative for CgA (chromogranin A), Syn (synaptophysin), CK (creatine kinase), CD117, CD10, AFP (alpha-fetoprotein), and EMA (epithelial membrane antigen).…”

Section: Pathomorphologymentioning

confidence: 97%

Diagnosis and treatment of malignant PEComa tumours

et al. 2020

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PEComa (PEC tumours; perivascular epithelioid cell tumours) is a family of rare tumours of mesenchymal origin, consisting of epithelial perivascular cells expressing melanocytic and myioid markers. This group includes benign tumours-such as angiomyolipoma (AML) of the kidney, and poorly differentiated malignant PEComa tumours with potential for an aggressive clinical course, which is the main focus of this review. PEComas are most often diagnosed in middle-aged women as extensive tumours located in the abdominal cavity or pelvis, manifesting as pain and complaints related to pressure on nearby organs. PEComa tumours should be differentiated from gastrointestinal stromal tumours (GIST), leiomyosarcoma, melanoma metastasis, chromophobic renal cell carcinoma, clear cell sarcoma, and other clear cell component tumours. Somatic inactivating mutations within the TSC1/TSC2 genes, resulting in excessive activation of the mTORC1 complex, are characteristic for this group of tumour. Recently, a separate PEComa subgroup has been distinguished, characterised by the presence of the TFE3 gene fusion, which also causes increased activity of the mTOR signalling pathway. Negative prognostic factors that indicate an increased risk of PEComa malignant biology are most often: tumour size > 5 cm, increased cytological and nuclear atypia, infiltration of surrounding tissues and blood vessels, presence of necrosis, and high mitotic activity. Radical resection remains the primary treatment method for PEComas because these tumours are characterised by high resistance to radiation and chemotherapy. In the case of locally advanced or metastatic disease, only single reports of short-term responses to palliative chemotherapy containing doxorubicin, gemcitabine, or ifosfamide are available in the literature. There are an increasing number of reports, in the form of several case reports and a few retrospective analyses, about the potential effectiveness of using mTOR inhibitors in unresectable cases. These drugs result in a reduction in primary tumour size and metastasis, as well as symptom relief, with controllable side effects. Unfortunately, case reports of complete resistance to mTOR inhibitor therapy are also available.

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“…Caliò et al also proposed that parvalbumin is expressed in many cases and can even be used as an immune marker for EAML lesions 41 . Moreover, PNL2 has been shown to be a biomarker of sensitivity and specificity in melanoma; recently, some scholars have found that compared with HMB‐45, PNL2 has a higher sensitivity for differentiating PEComa from other renal tumors (85% vs. 81%) and has specificity in malignant PEComa (89% vs. 81%) 42 …”

Section: Diagnosis Of Renal Epithelioid Angiomyolipomamentioning

confidence: 99%

“…41 Moreover, PNL2 has been shown to be a biomarker of sensitivity and specificity in melanoma; recently, some scholars have found that compared with HMB-45, PNL2 has a higher vs. 81%) and has specificity in malignant PEComa (89% vs. 81%). 42…”

Section: Histopathological Examinationmentioning

confidence: 99%

Advancements in the diagnosis and treatment of renal epithelioid angiomyolipoma: A narrative review

Yang

Liang

2022

The Kaohsiung J of Med Scie

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Renal epithelioid angiomyolipoma (EAML) is a unique subtype of angiomyolipoma that contains a variety of cytoplasmic-rich, eosinophilic cytoplasm epithelioid cells in addition to mature adipocytes, hyaline thick-walled vessels, and smooth muscle-like spindle cells. In recent years, increasing evidence has shown that EAML is a potentially malignant tumor. Due to the lack of typical clinical manifestations and imaging features, it is difficult to diagnose before surgery, and the diagnosis mainly depends on postoperative histopathological examination. With the advancement of pathological diagnostic techniques, more EAML cases has been discovered, but clinicians still lack a comprehensive understanding of EAML. This review comprehensively describes some pathological and clinical features of EAML, with special attention to the pathogenesis and treatment of malignant EAML in order to assist with clinical diagnosis and treatment.

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PNL2: an adjunctive biomarker for renal angiomyolipomas and perivascular epithelioid cell tumours

Cited by 25 publications

References 21 publications

Late local, peritoneal and systemic recurrence of renal angiomyolipoma: A case report

Late local, peritoneal and systemic recurrence of renal angiomyolipoma: A case report

Diagnosis and treatment of malignant PEComa tumours

Advancements in the diagnosis and treatment of renal epithelioid angiomyolipoma: A narrative review

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