DERMATOPATHOLOGY CASES: Self-Assessment Cases: Editor - Dr Sampurna Roy MD

Digital Images of interesting cases that will include the full spectrum of Dermatopathology, presented in the form of quiz.

The answer of the cases include related links and recent abstracts of articles.

Sunday, December 20, 2009

Answer of Dermatopathology Case 19

Spiradenocarcinoma (Malignant Eccrine Spiradenoma)

Visit: Pathology of Spiradenocarcinoma Visit: Dermatopathology site


Spiradenocarcinoma arising from a spiradenocylindroma: unusual case withlymphoepithelioma-like areas. J Cutan Med Surg. 2009 Jul-Aug;13(4):215-20.
BACKGROUND: Hybrid skin adnexal tumors are common, and spiradenocylindroma is well described. OBJECTIVE: However, malignant transformation in this setting isinfrequent, especially resemblance to lymphoepithelioma-like carcinoma of skin,which is not associated with Epstein-Barr virus. METHODS: A 65-year-old female presented with ataxia and a skin nodule composed of a hybrid adnexal tumor(spiradenoma and cylindroma) that transitioned into an undifferentiated carcinoma with attendant lymphocytes and plasma cells. There was widespread disseminationof the undifferentiated component to regional neck lymph nodes. RESULTS: The undifferentiated component resembled a lymphoepithelioma-like carcinoma and showed focal evidence of tubular and squamous differentiation. The tumor was Epstein-Barr encoded RNAs (EBER) negative by in situ hybridization. No evidence of neuroendocrine differentiation was seen in the tumor, despite the patient having symptoms of paraneoplastic ataxia that improved after surgery. CONCLUSION:This case highlights the transition of a benign hybrid tumor(spiradenocylindroma) into a spiradenocarcinoma that resembled lymphoepithelioma-like carcinoma of skin. It also highlights two unusual features: widespread lymph node dissemination and presentation with paraneoplastic syndrome-associated ataxia.

Spiradenocylindrocarcinoma. Report of a case with a low-grade component of spiradenocarcinoma and an immunohistochemical study. Am J Dermatopathol. 2009 Aug;31(6):594-8.
Spiradenocylindrocarcinoma is a very rare malignant cutaneous neoplasm of the folliculosebaceous-apocrine unit. We report a case of this hybrid tumor in a 42-year-old woman. The tumor consisted of 2 circumscribed nodules with areas of cylindrocarcinoma and low-grade spiradenocarcinoma. In the overlapping areas, both spiradenomatous and cylindromatous features were observed. Expansion of the tumor beyond the fibrous pseudocapsule into the adjacent tissue was present. Furthermore, tumor cells were demonstrating mild to moderate pleomorphism and an increased mitotic index. p53 and ki-67 were among the positive immunohistochemical markers. A relatively small number of tumor cells expressed estrogen receptors. The aim of this study was to investigate the nature of thisrare tumor of the skin appendages.

Morphologic diversity of malignant neoplasms arising in preexisting spiradenoma, cylindroma, and spiradenocylindroma based on the study of 24 cases, sporadic oroccurring in the setting of Brooke-Spiegler syndrome. Am J Surg Pathol. 2009 May;33(5):705-19.
The authors present a series of 24 malignant neoplasms arising in preexistingbenign spiradenoma (20), cylindroma (2), and spiradenocylindroma (2). Nineteen patients (12 females, 7 males; age range, 41 to 92 y) had a solitary neoplasm (size range, 2.2 to 17.5 cm; median 4 cm), whereas the remaining 5 (4 females, 1 male; age range, 66 to 72 y) manifested clinical features of Brooke-Spiegler syndrome (BSS), an autosomal dominantly inherited disease characterized by widespread, small, benign neoplasms on which background larger malignant lesions appeared. Microscopically, all cases showed the residuum of a preexisting benign neoplasm. The malignant components of the lesions were variable and could be classified into 4 main patterns, occurring alone or in combination: 1) salivary gland type basal cell adenocarcinoma-like pattern, low-grade (BCAC-LG); 2) salivary gland type basal cell adenocarcinoma-like pattern, high-grade (BCAC-HG); 3) invasive adenocarcinoma, not otherwise specified (IAC-NOS); and 4) sarcomatoid(metaplastic) carcinoma. In 1 case of IAC-NOS, an in situ adenocarcinoma was also found, presumed to have evolved from an adjacent adenomatous and atypical adenomatous component. Cases harboring a sarcomatoid carcinoma featured amalignant epithelial component composed of varying combinations of BCAC-HG,BCAC-LG, IAC-NOS, or squamous cell carcinoma, whereas the sarcomatoid component appeared as either a pleomorphic or spindle-cell sarcoma. Additionally, in 2 cases there were foci of heterologous chondrosarcomatous differentiation and in 1case there was rhabomyosarcomatous differentiation. Of the 21 patients with available follow-up (range, 3 mo-15 y; average 4.8 y; median 3.5 y), 10 were without evidence of disease, 1 was alive with metastatic disease, 1 was alive with BSS, 3 developed local recurrences, 4 had died of disease, and 2 were dead of other causes. The histologic pattern of the malignant neoplasm correlated to some extent with the clinical course. BCAC-LG neoplasms showed a less aggressive course, with local recurrences but no distant metastases, whereas the BCAC-HG neoplasms typically followed a highly aggressive course resulting in the death 3 of 6 patients with BCAC-HG. Patients with sarcomatoid carcinoma had a relatively good survival. Molecular genetic investigations revealed no mutations in the CYLD gene in the 4 sporadic cases investigated. One patient with BSS revealed a novel missense germline mutation in exon 14 (c. 1961T>A, p. V654E), whereas a living descendant of another deceased patient demonstrated a recurrent nonsense germline mutation in exon 20 (c. 2806C>T, p. R936X). Given the morphologic diversity and complexity of the neoplasms in question, we propose using a more specific terminology with the precise description of the neoplasm components, rather than generic and less informative terms such as "spiradenocarcinoma" or "carcinoma ex cylindroma."