Brief reports

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Histopathology 1992,21,179-181

BRIEF REPORT

Angiosarcoma complicating xeroderma pigmentosum J.LEAKE, M.P.SHEEHAN*, D.RAMPLING, P . RAMANI & D. J.ATHERTON* Departments of Histopathology and *Dermatologu, The Hospitals for Sick Children, Great Ormond Street, London, UK Date of submission 18 November 1991 Accepted for publication 5 March 1992

Keywords: Xeroderma pigmentosum, angiosarcoma

Introduction Xeroderma pigmentosum is a rare, autosomal recessive, multisystem disorder affecting approximately 1 in 2 50 000 people. It is characterized by defective repair of ultraviolet (UV) induced damage to DNA with principal clinical manifestations in the skin and eye. Cutaneous carcinomas and melanomas, as well as increased frequency of internal malignancies, are well known featured. We present a patient with cutaneous angiosarcoma complicating xeroderma pigmentosum, an association which has not previously been documented.

Case report Xeroderma pigmentosum was diagnosed in an 8-yearold female born in England to non-consanguineous Pakistani parents. Early pigmentary abnormalities developed from the age of 5 when she moved to Pakistan. Upon returning to England at the age of 8 a mottled hypo- and hyperpigmentation was present and the clinical diagnosis was confmned by fibroblast culture using germicidal W light. At the time of presentation she was also investigated for increasing lethargy and pallor and a diagnosis of aplastic anaemia was made. This responded to anabolic steroid therapy. There was no evidence of Fanconi’s anaemia and cytogenetic and skeletal studies were normal. At the age of 11 a conjunctival squamous cell carcinoma was excised and subsequently multiple basal and squamous cell carcinomas were treated with a combination of topical 5-fluorouracil, systemic retinoids and surgery. At the age of 15 a rapidly growing nodule developed on her scalp. Surgical excision with grafting Address for correspondence: Dr J. Leake. Senior Registrar, hpathnent of Morbid Anatomy. The Royal London Hospital. Londop El 1BB. UK.

was the primary treatment but this lesion recurred locally within 5 weeks and electron beam therapy was instituted. A further nodule, 2.5 cm in diameter, developed just lateral to the right eyebrow 11 months later. Biopsy of this confirmed that it was a recurrence with similar histological appearance to the original tumour. PATHOLOGICAL FINDINGS

Macroscopically, the specimen consisted of a raised nodule, 2.2 x 1.8 x 1.2 cm. The mass was haemorrhagic with cystic areas and a poorly delineated margin. Microscopic examination revealed an infiltrative tumour, much of which was poorly differentiated. In better differentiated foci plump endothelial cells lined anastomosing vascular channels (Figure la). Much of the tumour was not obviously vasoformative and was composed of pleomorphic epithelioid and spindle shaped cells with large nucleoli (Figure 1b). There was scattered phagocytosed haemosiderin pigment. Tumour involved the deep fascia and extended to the epidermis. It was incompletely excised laterally. Benign appearing telangiectatic capillary vascular spaces were seen in the adjacent dermis. The overlying epidermis was thinned and hyperkeratotic, but not dysplastic. There was no junctional activity. Immunocytochemical analysis revealed positive staining of the tumour cells for each of the four endothelial markers employed: von Willebrand factor (Figure 2a), Ulex ewropaeus agglutinin type 1, JC 702 (Figure 2b) and QBEND/103. Diffuse and strongly positive staining was observed in vasofonnativeareas, whilst in poorly differentiated areas there was focal staining. Positive results were also obtained with vimentin and protein-gene-product 9.5 (PGP 9.5). Staining for cytokeratins (LP 34 and CAM 5.2) and S-100 protein was negative. Ultrastructurally, intracytoplasmic intermediate filaments and pinocytotic vesicles, but no WeibelPalade bodies, were identified.

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Figure 1. Anglosarcoma:a well Werentlated area with anastomoslng endothelium-llned spaces with sprouting of endothellum into a vascular space (arrow);b poorly Werentlated area showing pleomorphic epithellold cells some with prominent nucleoli.

Figure. 2. Anglosarcoma:positive immunostainlng a for von Wfflebrand's factor and b with JC 70.

Discussion Angiosarcoma of the face and scalp is a distinct clinicopathological entity occurring mainly in the elderly and

affecting men more than women4. The prognosis is generally poor and does not correlatewell with histological grade, possibly reflecting the variability of the latter in different areas of the tumour. Histogenetically, it is

Brief reports

uncertain whether the tumour is derived from vascular or lymphatic endothelium and it is frequently negative for von Willebrand’s factor. Histologically, angiosarcoma of the face and scalp is indistinguishable from those lymphangiosarcomasthat arise as a complication of preceding chronic lymphoedema4.Telangiectasia is a feature of xeroderma pigmentosum and was present in our case. It is possible that endothelial cells lining such abnormal ectatic vascular spaces might have given rise to this tumour. Angiomas are a recognized, although uncommon, feature of xeroderma pigmentosum’. The immunocytochemical findings in this case confirmed the histological diagnosis of angiosarcoma and facilitated the exclusion of sarcomatoid carcinoma and melanoma. Our finding of positive immunostaining with PGP 9.5 is in keeping with the previously reported expression of this in vascular tumours of the liver5. The developmentof angiosarcoma in association with xeroderma pigmentosum raises the possibility that UV induced damage might be implicated in the pathogenesis of the tumour. However, angiosarcoma of the face and scalp is described in Negro patients and also develops in patients with a full head of hair, affording good protection from sunlight. Angiosarcoma is known to arise in areas of previous radiotherapy but in vitro repair of X-ray damaged cells from patients having xeroderma pigmentosum is normal in contrast with the considerably reduced repair following UV irradiation, suggesting that

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different enzyme pathways are involved in the repair processes6.On the other hand, the increased incidence of malignancy at sites not exposed to UV radiation suggest increased susceptibility to non-UV induced damage to DNA, perhaps mediated through dietary and environmental chemical carcinogens. It is, therefore, of further interest that our patient also developed bone marrow aplasia, possibly indicating that the haemopoietic stem cells were also abnormally sensitive to mutagens.

References 1. Kraemer KH. Lee MM. Scott0 J. Xeroderma pigmentosum. Cutaneous. ocular and neurological abnormalities in 830 published cases. Arch. Dermatol. 1987;123;241-250. 2. Parums DV. Cordell JL, Micklem K. Heryet AR. Gatter KC, Mason DY. JC70: a new monoclonal antibody that detects vascular endothelium associated antigen on routinely processed tissue sections. 1. Clin. Pathol. 1990 43;752-757. 3. Ramani P. Bradley NJ. Fletcher CDM. QBEND/lO. a new monoclonal antibody to endothelium: assessment of its diagnostic utility in paraffln sections. Histopatholog# 1990: 17;237-242. 4. Holden CA. Spittle M, Wilson-JonesE.Angiosarcoma of the face and scalp. prognosis and treatment. Cancer 1987: 59;1046-1057. 5. Wang J. DhUlon AP. Sankey EA. Wightman AK. Lewin JF. Scheuer PJ. ‘Neuroendocrine’ differentiation in primary neoplasms of the liver. 1. Pathol. 1991: 163; 61-67. 6. Kleijer WJ, Lohman PHM. Mulder ME’.Bootsma D. Repair of X-ray damage in DNA of cultivated cells from patients having Xeroderma pigmentosum. Mutation Res. 1970 9;517-523.

H i s t o p t h o b # 1992.21,181-184

BRIEF REPORT

Sebaceous differentiation in a breast carcinoma with ductal, myoepithelial and squamous elements R.J.PRESCOTT, B.P.EYDEN & N.L.REEVE* Departments of Histopathology, Christie Hospital National Health Service Trust, Manchester and “Stepping Hill Hospital. Stockport, UK Date of submission 2 September 1991 Accepted for publication 6 March 1992

Keywords: breast, carcinoma, sebaceous differentiation, squamous differentiation, myoepithelial cells Address for correspondence: Dr R.J.Prescott. Senior Registrar, Department of Histopathology. Christie Hospital National Health Service Trust, Manchester M2O 9BX. UK.

Introduction Breast and sweat glands share some similarities including possible derivation from a putative common progenitor structure. Eccrine differentiation in breast neoplasms

Angiosarcoma complicating xeroderma pigmentosum.

Brief reports 179 Histopathology 1992,21,179-181 BRIEF REPORT Angiosarcoma complicating xeroderma pigmentosum J.LEAKE, M.P.SHEEHAN*, D.RAMPLING, P...
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