|Ahead of print
Diagnosis of pseudomyogenic hemangioendothelioma of scapula on limited biopsy: A rare and challenging entity
Sahithi Shilpa Arya1, Sudha S Murthy1, Murali Krishna Puppala2, Rajeev B Reddy3, A Krishnam Raju4
1 Department of Pathology, Basavatarakam Indo American Cancer Hospital and Research Institute, Hyderabad, Telangana, India
2 Department of Orthopaedics, Sai Sanjeevani Hospital, Tadepalligudem, Andhra Pradesh, India
3 Department of Orthopaedics, Apollo Hospitals, Jubilee Hills, Hyderabad, Telangana, India
4 Department of Radiation Oncology, Basavatarakam Indo American Cancer Hospital and Research Institute, Hyderabad, Telangana, India
|Date of Submission||01-May-2020|
|Date of Decision||01-May-2020|
|Date of Acceptance||14-Dec-2020|
|Date of Web Publication||16-Jul-2021|
Sudha S Murthy,
Department of Pathology, Basavatarakam Indo American Cancer Hospital and Research Institute, Hyderabad, Telangana
Source of Support: None, Conflict of Interest: None
Pseudomyogenic hemangioendothelioma (PHE) is a soft-tissue tumor of intermediate malignant potential, recognized as a separate entity in the WHO (World Health Organization) classification of tumors of soft tissue and bone, in 2013. This is a case report of a 33-year-old man with intraosseous scapular PHE reported on small biopsy and immunohistochemistry. The patient presented with local recurrence and metastases even after wide local excision and adjuvant radiotherapy after 14 months. The rarity of this lesion at this site and morphologic clues to diagnosis are important for optimizing the treatment protocol.
Keywords: Epithelioid sarcoma-like hemangioendothelioma, immunohistochemistry, pseudomyogenic hemangioendothelioma
|How to cite this URL:|
Arya SS, Murthy SS, Puppala MK, Reddy RB, Raju A K. Diagnosis of pseudomyogenic hemangioendothelioma of scapula on limited biopsy: A rare and challenging entity. Indian J Cancer [Epub ahead of print] [cited 2021 Jul 27]. Available from: https://www.indianjcancer.com/preprintarticle.asp?id=321671
| » Introduction|| |
Pseudomyogenic hemangioendothelioma (PHE) was previously named as epithelioid sarcoma like hemangioendothelioma in 2003., Later, in 2011, Hornick and Fletcher introduced the term PHE based on its clinical features and morphology showing myoid like areas., Now it is considered as mesenchymal tumor of intermediate malignant potential in WHO (World Health Organization) classification of tumors of soft tissue and bone, 2013. Median age is 31 years and with predilection for men.,, It usually involves soft tissues of extremities and rarely bone. Multifocal involvement may also be seen. Twenty-five percent of cases show concurrent bone involvement; however different series show variable involvement.
| » Case Report|| |
A rare case of intraosseous PHE is herewith reported. The patient's consent has been taken for publication and the case report has been approved by the institutional ethics committee.
A 33-year-old man presented to outpatient department with vague pain in the right shoulder of three months duration. Computed tomography (CT) chest showed an expansile lytic lesion with soft-tissue component involving right acromion process, extending up to the base of coracoid [Figure 1]. The clinical diagnosis was plasma cell neoplasm or primary bone tumor. Serum-free light chain assay was normal with no M-band. A core needle biopsy from the lesion showed linear cores of trabecular bone variably cellular lesion comprising of spindle cells with moderate amounts of cytoplasm and elongated nucleus. The stroma was edematous to myxoid with scattered neutrophils, plasma cells, and lymphocytes. A solitary focus showed sheets of oval cells having an abundant amount of cytoplasm with central to peripherally placed hyperchromatic nucleus resembling rhabdomyoblasts. A few cells exhibited intranuclear inclusions. The differential diagnoses considered were epithelioid sarcoma (ES) and rhabdomyosarcoma (RMS). Immunohistochemistry (IHC) was performed [Table 1] and interpreted accordingly. IHC [Figure 2] showed positivity for FL1-1 (friend leukemia integration 1 transcription factor), CD31 (cluster differentiation), cytokeratin and was negative for CD34, desmin, SMA (smooth muscle actin), TLE1 (transducin-like enhancer of split 1), HepPar1 (hepatocyte paraffin 1). INI1 (integrase interactor 1) expression was intact. The morphology in correlation with radiology and IHC was diagnostic of PHE (intermediate grade lesion). The patient later underwent wide excision of lateral clavicle, acromioclavicular joint, acromion process, and histopathologic examination elsewhere.
|Figure 1: (a) Computed tomography (CT) scan demonstrating an expansile lytic lesion with thinning of posterior cortex involving acromion process; (b) Excised specimen with tumor involving the acromion; Photomicrographs showing (c) interlacing spindle cells with extravasated red blood cells, H&E x100; (d) sheets of rhabdoid cells, H&E x400|
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|Figure 2: Photomicrographs of immunohistochemistry demonstrating cytoplasmic positivity in tumor cells, (a) vimentin x100; (b) cytokeratin x100; (c) CD31 x100; nuclear positivity (d) FLI-1 x100; (e) intact, INI1 x100; negative (f) desmin x100, (g) CD34 x40; (h) SMA x100|
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The slides of the specimen were submitted for review which predominantly revealed sheets of atypical large cells with abundant cytoplasm and pleomorphic nucleus. Also seen were fascicles and bundles of spindle cells with blunt ends and elongated hyperchromatic nucleus. The IHC profile was similar to that done on small biopsy. IHC for ERG done on the excised specimen elsewhere was positive in the tumor cells. The final diagnosis was concordant with the diagnosis on core biopsy. There was infiltration into adjoining soft tissue and focally involved the soft-tissue margin; however, the acromioclavicular joint and acromion cut margins were free of tumor. The patient received adjuvant radiotherapy 50Gy over five weeks. After 14 months, the patient was found to have local recurrence and metastases to lung and is on further adjuvant therapy.
| » Discussion|| |
The entity PHE is a rare intermediate grade malignancy classified under vascular tumors. The lesion lacks the morphology of endothelial differentiation and the term pseudomyogenic is attributed to the striking resemblance of tumor cells with rhabdomyoblasts. It is a rare tumor and around 141 cases were reported in the literature till date., As per the literature, it is seen predominantly in men (male to female ratio is 4:1) with a mean and median age of 32 and 27 years, respectively (range: 5–82 years).,,, PHE most commonly occurs in the skin and soft tissues. Nearly one-fourth of the cases presented as primary bone lesions with over half in the lower extremities and 17% occurred in the upper extremities; 15% in the trunk; 6% in the head and neck region; and exceedingly unusual site like the penis and vulva. The site of tumor in the present study is rare, presenting as primary intraosseous lesion of scapula and the diagnosis was rendered on limited biopsy.
The clinical manifestation of PHE is usually as cutaneous painless or painful nodules. The primary osseous lesion presents as lytic lesions. Radiological examination shows a well delineated expansile lytic lesion with or without bone cortex involvement. The histological features of PHE include spindle cells with elongated nucleus and nodules of epithelioid cells resembling rhabdomyoblasts. On IHC, expression of vascular markers like CD31 (60–65%), ERG (erythroblast transformation specific related gene) and FLI-1 were seen. However, CD34 was consistently negative. The cells also showed strong expression for cytokeratin in almost all the studies. Desmin negativity and cytokeratin positivity rules out the possibility of rhabdomyosarcoma. The tumor cells show intact INI1, unlike in epithelioid sarcoma where there is loss of INI1 and CD34 is positive.,
A new novel adjunct diagnostic IHC marker for PHE discovered in recent times is FOSB. The nuclear expression of FOSB is seen in 96% cases of PHE but is also seen with its histologic mimics (54% of epithelioid hemangioma, 54% of proliferative fasciitis, 55% of nodular fasciitis, 40% of epithelioid angiosarcoma, rarely in epithelioid hemangioma and spindle cell angiosarcoma). IHC expression of FOS and FOSB are reported in osteoid osteoma and osteoblastoma as well, therefore making the diagnosis challenging. At molecular level, a balanced t(7;19)(q22;q13) has been found. Studies have shown SERPINE1-FOSB gene fusion and ACTB-FOSB gene fusion in PHE. ACTB-FOSB fusion is associated with a solid growth pattern.
PHE is an intermediate grade, rarely metastasizing tumor, with an indolent course. The tumor metastasizes in 20% cases mostly to lung, regional lymph nodes, groin, sub-pleural region, ribs, and vertebra. Recent studies have shown that mTOR inhibitors are effective in reducing the expression of SERPINE1-FOSB fusion protein., Local resection is therapy of choice for localized disease
| » Summary|| |
We report a rare case of primary intraosseous PHE in a young man which recurred and metastasized after excision and radiotherapy. The rarity of the site, initial diagnosis on limited biopsy with IHC and aggressive behavior are highlighted.
Declaration of patient consent
The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed
We wish to acknowledge Dr Mishil Parekh for providing the photograph and operative findings.
Financial support and sponsorship
Conflicts of interest
There are no conflicts of interest.
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[Figure 1], [Figure 2]