Melanocyte-marker-HMB-45 is regularly expressed in angiomyolipoma of the kidney

doi:10.3109/00313029109063563

Pathology

Volume 23, Issue 3, 1991, Pages 185-188

https://doi.org/10.3109/00313029109063563 Get rights and content

Summary

HMB-45 (melanocytic cell-specific monoclonal antibody) immunoreactivity was investigated in 10 cases of angiomyo-lipoma (AML) (1 with massive regional lymph node involvement) of the kidney and detected in all of them. No HMB-45 immunoreactivity was found in other tumors of the region which can occasionally be confused with AML, such as renal cell carcinoma, Wilms’ tumor, and retroperitoneal sarcoma (leiomyosarcoma and liposarcoma). These findings indicate that HMB-45 is not a melanocyte-restricted marker and suggest that its expression might be useful in distinguishing AML from other tumors of the kidney and retroperitoneum.

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2022, Human Pathology Reports
We report a 38-year-old female with a history of primary pelvic PEComa and subsequent metastatic PEComa to the mediastinum who presented with recurrent mediastinal metastasis in April 2021. At initial presentation in 2010, the patient reported a three-month history of abdominal pain, hot flashes, night sweats, and a one-day history of bloating. Surgery revealed an 18-cm multilobulated pelvic mass involving the posterior uterus, bladder, and bilateral adnexa. Histology showed spindled and epithelioid tumor cells immunopositive for HMB-45, desmin, TFE3, SMA, caldesmon, Melan-A and calretinin. Cytokeratin, S-100, inhibin, myogenin, and OCT3/4 immunostains were negative. In 2013 the patient re-presented with chest pain. Imaging confirmed a mediastinal mass involving the pericardium with histology resembling the previous pelvic mass. Following initial resection and mTOR therapy, the mediastinal mass recurred once in 2015 with similar histologic findings. This case provides the first description of a malignant pelvic PEComa metastasizing to the mediastinum, and demonstrates the challenges associated with diagnosing metastatic PEComa. Though malignant PEComa with metastasis to the mediastinum is rare, it is important to recognize the natural process of this tumor to ensure adequate follow-up and patient care.
Angiomyolipoma of the kidney: from simple hamartoma to complex tumour
2021, Pathology
Angiomyolipoma is the most common mesenchymal tumour of the kidney, even if for a long time it has been viewed as a hamartoma rather than a neoplasm. It belongs to a family of neoplasms, named PEComa, characterised by the constant presence of perivascular epithelioid cells that co-express smooth muscle and melanogenesis markers. Angiomyolipoma can occur in patients with tuberous sclerosis, a hereditary syndrome due to the alteration of TSC1 or TSC2 genes, or sporadically. Angiomyolipoma and its variants are indolent tumours; however, some epithelioid angiomyolipomas/pure epithelioid PEComas are aggressive, and criteria for malignancy have been proposed to identify those cases. Although typical angiomyolipoma is a straightforward diagnosis, pathologists should be aware of the wide morphological spectrum of its variants which could be tricky in routine clinical practice and could require immunohistochemical analysis for resolution. The differential diagnosis may range from an inflammatory process (for instance xanthogranulomatous pyelonephritis) to the most common renal cancers and sarcomas. The immunoexpression of melanogenesis markers (HMB45 and Melan-A) and cathepsin K is extremely helpful in the majority of cases. Recently, a subset of epithelioid angiomyolipoma/pure epithelioid PEComa harbouring TFE3 gene fusions has been described, raising questions about its relationship with the family of perivascular epithelioid cell tumour. The activation of the mTOR pathway due to genetic alterations of tuberous sclerosis complex in TSC1 or TSC2 genes in angiomyolipoma has also been reported as well as the subsequent therapeutic implications.
Mesenchymal Neoplasms of the Genitourinary System: A Selected Review with Recent Advances in Clinical, Diagnostic, and Molecular Findings
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Atypical Epithelioid Angiomyolipoma: A Rare Variant With Malignant Potential
2018, Urology
Citation Excerpt :
Some believe that the incidence of RCC associated with the tuberous sclerosis complex is falsely elevated due to this finding.11 Pathologically, EAML can be distinguished from RCC and other renal tumors due to a uniform expression of melanocyte marker HMB-4512 (Fig. 3). Histologic characteristics that seem to confer a poor prognosis (ie, malignant potential) include >70% atypical epithelial cells, >2 mitotic figures per hpf, atypical mitotic figures, and necrosis.13
Hepatic angiomyolipomas may overexpress TFE3, but have no relevant genetic alterations
2017, Human Pathology
The fusion or amplification of TFE3 has been identified as one of the molecular events underlying tumorigenesis in perivascular epithelioid cell tumors (PEComas). TFE3 rearrangements in PEComas are related to the morphological features of the epithelioid appearance and weaker expression of immunohistochemical muscular markers. This study aimed to clarify whether these genetic alterations are involved in hepatic angiomyolipomas (AMLs), which are a member of the PEComa tumor family. We examined 28 liver specimens (15 biopsies and 13 surgical specimens) of hepatic AMLs obtained from 26 patients. Renal AMLs (n = 20), extrahepatorenal PEComas (n = 3), lymphangiomyomatosis (n = 8), and hepatocellular carcinomas (n = 40) were used as a control. A histologic comparison between hepatic and renal AMLs revealed that the epithelioid appearance was more common in hepatic tumors (38% versus 0%, P = .006). In immunohistochemistry, the expression of HMB45 and Melan-A appeared to be more widespread in hepatic AMLs than in renal AMLs, whereas smooth muscle actin and desmin were less broadly expressed in hepatic tumors (all P < .001). TFE3 also appeared to be overexpressed in 6 (21%) of 26 hepatic AMLs and 3 (100%) of 3 PEComas, but in none of the renal AMLs. In fluorescence in situ hybridization, although all PEComas harbored a TFE3 rearrangement or amplification, no genetic alterations were found in any hepatic AMLs. In conclusion, although hepatic AMLs and TFE3-rearranged PEComas share pathological features such as the epithelioid appearance and immunoreactivity to TFE3, TFE3 alterations are less likely to be a major molecular event driving tumorigenesis in hepatic AMLs.
Ang-1 and Ang-2 expression in angiomyolipoma and PEComa family tumors
2017, Journal of Orthopaedics
Citation Excerpt :
PEComas of other sites, including soft tissue and gynecologic origin have been well documented,4 while diverse sites have been described. Immunohistochemical features of PEComa family tumors are distinct, and typically show co-expression of smooth muscle markers and melanocytic markers.5 Pericytes are mesenchymal cells that closely enwrap small blood vessels, regulating and supporting the microvasculature through direct contact with the endothelium.
Perivascular epithelioid cell tumors (PEComa) are an uncommon family of soft tissue tumors. Previously, we described that the presence of pericyte antigens among PEComa family tumors differs extensively by histologic appearance.
Here, we extend our findings using the pericyte antigens Angiopoietin-1 (Ang-1) and Angiopoietin-2 (Ang-2), using immunohistochemical detection in human tumor samples.
While Ang-1 showed no expression across any PEComa family tumor, Ang-2 showed expression that like other pericyte markers was largely determined by cytologic appearance.
Pericytic marker expression in PEComa may represent a true pericytic cell of origin, or alternatively aberrant pericyte marker adoption.

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Melanocyte-marker-HMB-45 is regularly expressed in angiomyolipoma of the kidney

Summary

J Urol

J Urol

Hum Pathol

J Urol

Angiomyolipoma of kidney with lymph node involvement

Arch Pathol Lab Med

Ackerman’s Surgical Pathology

Soft tissue tumors

Uncommon histologic pattern mimicking malignancy in angiomyolipoma

Laboratory Investigation