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Case series: Two cases of primary retroperitoneal mucinous cystadenoma
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PATHOLOGY 2016 ABSTRACT SUPPLEMENT
the breast tissue in the axillary tail, with features identical to the core biopsy morphologically and immunologically, and confirmed the diagnosis of a primary breast carcinoma with neuroendocrine differentiation. The tumour showed a triple negative, basal-like phenotype. Due to the morphology and clinical setting the possibility of a primary elsewhere was considered, however primary lung markers and CK20 were negative, and there was no radiological evidence of other tumours. Discussion: Male breast cancer though rare remains a morphologically identifiable entity, which can also display rarer morphological patterns such as neuroendocrine differentiation. DIEULAFOY LESION OF THE GALLBLADDER Tarini Fernando, Poh-Yen Yeo Box Hill Hospital Anatomical Pathology Department, Vic, Australia We present the case of a 84-year-old female who presented with jaundice, right upper quadrant pain and melaena after a recent anterior resection for diverticular disease. Laboratory investigations showed raised ALP and GGT, low haemoglobin and hyperbilirubinemia. Endoscopy showed fresh bleeding within the third part of the duodenum, with no identifiable source. This triad of upper abdominal pain, jaundice and unknown site of upper gastrointestinal bleed, known as Quincke’s triad, is strongly suggestive of haemobilia, and a cholecystectomy was performed.1 Macroscopic examination showed a haemorrhagic and acutely inflamed gallbladder. The histological findings demonstrated multi-focal mucosal ulceration with a tortuous medium-sized calibre artery at the base of one of the ulcers, confirming the clinical suspicion of a Dieulafoy lesion. Dieulafoy lesion is a rare cause of gastrointestinal bleeding, accounting for 1–2% of all acute emergency digestive bleeds.2 The gallbladder is a very rare location for the disease to manifest; the current literature describes only 3 previous cases. The aetiology remains uncertain especially within the gallbladder with multiple hypotheses put forward in the literature. The histological diagnosis requires ample sampling, findings of a larger calibre mucosal or submucosal artery with variable disruption to its integrity protruding through an overlying mucosal defect, and close correlation with the clinical and radiological findings. References 1. Chin MW, Enns R, Hemobilia. Curr Gastroenterol Rep 2010; 12: 121–9. 2. Moszkowicz D, Houdar R. Dieulafoy’s lesion of the gallbladder. Surg Radiol Anat 2014; 36: 307–8.
A CASE OF END STAGE SARCOIDOSIS IN AN EXPLANTED HEART Tiffany Foo1, Peter Dias2, Raja Sinniah1 1 Department of Pathology, and 2Department of Cardiology, Fiona Stanley Hospital, WA, Australia Sarcoidosis is a rare granulomatous disease, with the incidence in Australia estimated to be 0.004–0.006%.1 A database search of all Pathwest records for the past 20 years yielded only one case of cardiac sarcoidosis. Cardiac sarcoidosis carries a poor prognosis, with a significant proportion developing end-stage cardiac
Pathology (2016), 48(S1)
failure, for which heart transplantation is a viable treatment modality.2 We present a case of a 63-year-old gentleman who underwent cardiac transplantation for end-stage cardiac sarcoidosis. He presented in 2013 following 2 episodes of syncope. Further investigations with PET, MRI, echocardiogram and CT showed radiological evidence of sarcoidosis. No tissue diagnosis was obtained at the time. He subsequently developed atrial fibrillation with progressive worsening of LV function despite medical treatment. Cardiac transplantation was performed in 2015. Macroscopic examination showed thickened ventricular walls with multiple patchy, grey, rubbery areas. Microscopic examination showed extensive scarring and fibrosis of the myocardium involving both ventricles and the interventricular septum. Only few poorly formed granulomas were seen despite extensive sampling. The histopathological diagnosis of sarcoidosis can be challenging due to patchy distribution of granulomas.3 Furthermore, there are many mimics which have to be considered.4 Careful and widespread sampling is required.4 References 1. Arumugam D, Brown M, Galbraith AM, et al. The incidence of undiagnosed cardiac sarcoidosis in explanted hearts following heart transplantation. Heart Lung Circ 2009; 18S: S1–286. 2. Perkel D, Czer LSC, Morrissey RP, et al. Heart transplantation for end-stage heart failure due to cardiac sarcoidosis. Transplant Proc 2013; 45: 2384–6. 3. Lagana SM, Parwani AV, Nichols LC. Cardiac sarcoidosis: a pathology-focused review. Arch Pathol Lab Med 2010; 134: 1039–46. 4. Bagwan AN, Hooper LVB, Sheppard MN. Cardiac sarcoidosis and sudden death. The heart may look normal or mimic other cardiomyopathies. Virchows Arch 2011; 458: 671–8.
CASE SERIES: TWO CASES OF PRIMARY RETROPERITONEAL MUCINOUS CYSTADENOMA Tiffany Foo, Andrew Laycock, Michael Texler Department of Anatomical Pathology, Fiona Stanley Hospital, WA, Australia Primary retroperitoneal mucinous cystic tumours are extremely rare. To date, only 56 cases have been reported in the English literature.1,2,3 These tumours can be categorised into mucinous cystadenomas, mucinous borderline tumours/tumours of low malignant potential and mucinous carcinomas.4 Primary retroperitoneal mucinous cystadenoma (PRMC) accounts for 31 of the reported cases, with the overwhelming majority of cases occurring in females.2,4 Due to the rarity of cases, the aetiology and clinical behaviour of this entity is unclear.2 In this poster, we present 2 cases of PRMC seen in our department between 2013 and 2015. Both patients were otherwise healthy women who presented with pelvic pain. Further investigations revealed large retroperitoneal cysts with no connections to other intra-abdominal, pelvic or retroperitoneal organs. Histopathologically, the cysts were lined by bland epithelium alternating between predominantly flattened to cuboidal epithelium, with areas of columnar mucinous epithelial cells. No features of atypia or malignancy were identified. Immunoperoxidase stains showed both the mucinous and flat cuboidal cells to be CK7 positive and CK20 negative. The flat cells were also positive for calretinin, ER and PR while the cytoplasm of the mucinous cells was positive for PAS and PAS-D.
ABSTRACTS
References 1. Praskevakou H, Orfanos S, Diamantis T, et al. Primary retroperitoneal mucinous cystadenoma. A rare case with two cysts and review of literature. Hippokratia 2014; 18: 278–81. 2. Lee SE, Oh HC, Park YG, et al. Laparoscopic excision of primary retroperitoneal mucinous cystadenoma and malignant predicting factors derived from literature review. Int J Case Rep 2015; 9: 130–3. 3. Heelan Gladden AA, Wohlauer M, McManus MC, et al. A primary retroperitoneal mucinous tumour. Case Rep Surg 2015; 2015: 157613. 4. Barka M, Mallat Faouzi, Mabrouk MB, et al. Primary retroperitoneal benign mucinous cystadenoma in a male. Int J Case Rep Images 2015; 6: 198–202.
LYMPHOEPITHELIOMA-LIKE CARCINOMA OF THE BREAST – A CASE REPORT AND BRIEF REVIEW OF THE LITERATURE Kate Francis1, Angeline Teo1, David Palmer2 1 Western Diagnostic Pathology, Myaree, and 2Clinipath Pathology, Osborne Park, WA, Australia Introduction: Lymphoepithelioma-like carcinoma (LELC) of the breast is a rare entity, with less than 25 cases reported in the literature. It differs from many other lymphoepithelioma-like lesions in that it lacks an association with Epstein–Barr virus (EBV). Case Report: A 67-year-old female underwent an excisional biopsy for a firm left breast mass, favoured clinically to represent fat necrosis. Pathological examination revealed a dense mixed lymphoplasmacytic population partially obscuring small groups and discohesive sheets of larger atypical cells, initially prompting suspicion of a lymphoma. Immunohistochemistry demonstrated cytokeratin positivity (AE1/3, EMA, CK7) in this atypical population whilst lymphoid markers were restricted to background inflammatory cells. EBER-ISH was negative. ER, PR and HER2 were negative. As the lesion extended to biopsy margins re-excision of margins in addition to sentinel node biopsy were performed. This demonstrated focal residual disease with no evidence of nodal metastasis. The patient remains well at the time of this report. Discussion: LELC may pose a diagnostic challenge, particularly in small biopsies. We report the clinicopathological findings in this case in conjunction with a brief review of the relevant literature. CASE REPORT: MALIGNANT GERM CELL TUMOUR WITH PREDOMINANT EMBRYONAL CARCINOMA COMPONENT IN A DYSGENETIC GONAD Michelle Galido-Mabagos, Anita Mani Pathology North Tamworth, NSW, Australia Case summary: The patient is a 24-year-old male without preexisting medical condition who presented with left testicular swelling. Histopathologic examination of the testis revealed a malignant germ cell tumour with a predominant embryonal carcinoma component (80–90%), focal immature teratoma (less than 1%) and possible yolk sac and seminoma component. At the background are extensive intratubular germ cell neoplasia (ITGCN) and gonadoblastoma-like area suggestive of a dysgenetic gonad. The embryonal carcinoma component is OCT4, CK AE1/AE3, PLAP, CD30 and AFP positive.
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Discussion: Testicular tumour is attributed to various aetiologies including disorders of sex development including testis specific protein Y encoded gonadal dysgenesis. Presence of gonadoblastoma is an indicator for gonadal dysgenesis as evident in the case being presented. Testicular germ cell tumours are morphologically heterogenous and it is not uncommon to encounter difficulties in classifying them due to overlap in cytologic features. In tumours with an embryonal carcinoma component prompt diagnosis is essential, since these tumours have a tendency for early haematogenous spread and thus often present with metastasis at first diagnosis. Conclusion: Gonadal dysgenesis increases the risk for development of testicular germ cell tumours. Confirmation of presence of embryonal carcinoma component in a malignant germ cell tumour is essential to render prompt and appropriate treatment. PARATESTICULAR DEDIFFERENTIATED LIPOSARCOMA WITH RHABDOMYOBLASTIC DIFFERENTIATION AND HCG PRODUCTION: CASE STUDY AND LITERATURE REVIEW David Guard, Benjamin Shepherd Department of Anatomical Pathology, Pathology Queensland, Princess Alexandra Hospital, Qld, Australia Liposarcoma is among the more common soft tissue sarcomas, although its occurrence in a paratesticular location is quite rare, with only relatively small numbers of reported case series to date. We present a case of an 83-year-old male with an unusual paratesticular liposarcoma which demonstrated extensive dedifferentiation with heterologous elements including skeletal muscle differentiation, as well as possible osteosarcomatous and chondrosarcomatous elements. The patient was also noted to have a raised serum hCG, and subsequent immunohistochemistry confirmed the presence of hCG-positive mononuclear and giant cells within the tumour. CASE REPORT: CRIBRIFORM MORULAR VARIANT OF PAPILLARY CARCINOMA D. Horadagoda, W. Varikatt Anatomical Pathology, ICPMR, Westmead Hospital, Westmead, NSW, Australia Cribriform morular variant is a rare subtype of papillary thyroid carcinoma which is associated with familial adenomatous polyposis (FAP). We report a case of a 23-year-old female with a history of FAP who had undergone complete colectomy, now presenting with a thyroid tumour. Histology of the lobulated fleshy nodule involving most of the left thyroid showed an encapsulated tumour with a reasonably thick fibrous capsule showing a distinct cribriform architecture composed of fused follicles lined by tall columnar cells with moderate cytoplasm and enlarged crowded nuclei. Small morular proliferation of spindle cells lacking keratinisation was also a feature. The lumens of the follicles were devoid of colloid. In some areas focal full thickness capsular penetration was seen. No lymphovascular invasion was seen. The tumour was positive for keratin7, keratin19, high molecular weight keratin and TTF-1 but was negative for thyroglobulin.
PATHOLOGY 2016 ABSTRACT SUPPLEMENT
the breast tissue in the axillary tail, with features identical to the core biopsy morphologically and immunologically, and confirmed the diagnosis of a primary breast carcinoma with neuroendocrine differentiation. The tumour showed a triple negative, basal-like phenotype. Due to the morphology and clinical setting the possibility of a primary elsewhere was considered, however primary lung markers and CK20 were negative, and there was no radiological evidence of other tumours. Discussion: Male breast cancer though rare remains a morphologically identifiable entity, which can also display rarer morphological patterns such as neuroendocrine differentiation. DIEULAFOY LESION OF THE GALLBLADDER Tarini Fernando, Poh-Yen Yeo Box Hill Hospital Anatomical Pathology Department, Vic, Australia We present the case of a 84-year-old female who presented with jaundice, right upper quadrant pain and melaena after a recent anterior resection for diverticular disease. Laboratory investigations showed raised ALP and GGT, low haemoglobin and hyperbilirubinemia. Endoscopy showed fresh bleeding within the third part of the duodenum, with no identifiable source. This triad of upper abdominal pain, jaundice and unknown site of upper gastrointestinal bleed, known as Quincke’s triad, is strongly suggestive of haemobilia, and a cholecystectomy was performed.1 Macroscopic examination showed a haemorrhagic and acutely inflamed gallbladder. The histological findings demonstrated multi-focal mucosal ulceration with a tortuous medium-sized calibre artery at the base of one of the ulcers, confirming the clinical suspicion of a Dieulafoy lesion. Dieulafoy lesion is a rare cause of gastrointestinal bleeding, accounting for 1–2% of all acute emergency digestive bleeds.2 The gallbladder is a very rare location for the disease to manifest; the current literature describes only 3 previous cases. The aetiology remains uncertain especially within the gallbladder with multiple hypotheses put forward in the literature. The histological diagnosis requires ample sampling, findings of a larger calibre mucosal or submucosal artery with variable disruption to its integrity protruding through an overlying mucosal defect, and close correlation with the clinical and radiological findings. References 1. Chin MW, Enns R, Hemobilia. Curr Gastroenterol Rep 2010; 12: 121–9. 2. Moszkowicz D, Houdar R. Dieulafoy’s lesion of the gallbladder. Surg Radiol Anat 2014; 36: 307–8.
A CASE OF END STAGE SARCOIDOSIS IN AN EXPLANTED HEART Tiffany Foo1, Peter Dias2, Raja Sinniah1 1 Department of Pathology, and 2Department of Cardiology, Fiona Stanley Hospital, WA, Australia Sarcoidosis is a rare granulomatous disease, with the incidence in Australia estimated to be 0.004–0.006%.1 A database search of all Pathwest records for the past 20 years yielded only one case of cardiac sarcoidosis. Cardiac sarcoidosis carries a poor prognosis, with a significant proportion developing end-stage cardiac
Pathology (2016), 48(S1)
failure, for which heart transplantation is a viable treatment modality.2 We present a case of a 63-year-old gentleman who underwent cardiac transplantation for end-stage cardiac sarcoidosis. He presented in 2013 following 2 episodes of syncope. Further investigations with PET, MRI, echocardiogram and CT showed radiological evidence of sarcoidosis. No tissue diagnosis was obtained at the time. He subsequently developed atrial fibrillation with progressive worsening of LV function despite medical treatment. Cardiac transplantation was performed in 2015. Macroscopic examination showed thickened ventricular walls with multiple patchy, grey, rubbery areas. Microscopic examination showed extensive scarring and fibrosis of the myocardium involving both ventricles and the interventricular septum. Only few poorly formed granulomas were seen despite extensive sampling. The histopathological diagnosis of sarcoidosis can be challenging due to patchy distribution of granulomas.3 Furthermore, there are many mimics which have to be considered.4 Careful and widespread sampling is required.4 References 1. Arumugam D, Brown M, Galbraith AM, et al. The incidence of undiagnosed cardiac sarcoidosis in explanted hearts following heart transplantation. Heart Lung Circ 2009; 18S: S1–286. 2. Perkel D, Czer LSC, Morrissey RP, et al. Heart transplantation for end-stage heart failure due to cardiac sarcoidosis. Transplant Proc 2013; 45: 2384–6. 3. Lagana SM, Parwani AV, Nichols LC. Cardiac sarcoidosis: a pathology-focused review. Arch Pathol Lab Med 2010; 134: 1039–46. 4. Bagwan AN, Hooper LVB, Sheppard MN. Cardiac sarcoidosis and sudden death. The heart may look normal or mimic other cardiomyopathies. Virchows Arch 2011; 458: 671–8.
CASE SERIES: TWO CASES OF PRIMARY RETROPERITONEAL MUCINOUS CYSTADENOMA Tiffany Foo, Andrew Laycock, Michael Texler Department of Anatomical Pathology, Fiona Stanley Hospital, WA, Australia Primary retroperitoneal mucinous cystic tumours are extremely rare. To date, only 56 cases have been reported in the English literature.1,2,3 These tumours can be categorised into mucinous cystadenomas, mucinous borderline tumours/tumours of low malignant potential and mucinous carcinomas.4 Primary retroperitoneal mucinous cystadenoma (PRMC) accounts for 31 of the reported cases, with the overwhelming majority of cases occurring in females.2,4 Due to the rarity of cases, the aetiology and clinical behaviour of this entity is unclear.2 In this poster, we present 2 cases of PRMC seen in our department between 2013 and 2015. Both patients were otherwise healthy women who presented with pelvic pain. Further investigations revealed large retroperitoneal cysts with no connections to other intra-abdominal, pelvic or retroperitoneal organs. Histopathologically, the cysts were lined by bland epithelium alternating between predominantly flattened to cuboidal epithelium, with areas of columnar mucinous epithelial cells. No features of atypia or malignancy were identified. Immunoperoxidase stains showed both the mucinous and flat cuboidal cells to be CK7 positive and CK20 negative. The flat cells were also positive for calretinin, ER and PR while the cytoplasm of the mucinous cells was positive for PAS and PAS-D.
ABSTRACTS
References 1. Praskevakou H, Orfanos S, Diamantis T, et al. Primary retroperitoneal mucinous cystadenoma. A rare case with two cysts and review of literature. Hippokratia 2014; 18: 278–81. 2. Lee SE, Oh HC, Park YG, et al. Laparoscopic excision of primary retroperitoneal mucinous cystadenoma and malignant predicting factors derived from literature review. Int J Case Rep 2015; 9: 130–3. 3. Heelan Gladden AA, Wohlauer M, McManus MC, et al. A primary retroperitoneal mucinous tumour. Case Rep Surg 2015; 2015: 157613. 4. Barka M, Mallat Faouzi, Mabrouk MB, et al. Primary retroperitoneal benign mucinous cystadenoma in a male. Int J Case Rep Images 2015; 6: 198–202.
LYMPHOEPITHELIOMA-LIKE CARCINOMA OF THE BREAST – A CASE REPORT AND BRIEF REVIEW OF THE LITERATURE Kate Francis1, Angeline Teo1, David Palmer2 1 Western Diagnostic Pathology, Myaree, and 2Clinipath Pathology, Osborne Park, WA, Australia Introduction: Lymphoepithelioma-like carcinoma (LELC) of the breast is a rare entity, with less than 25 cases reported in the literature. It differs from many other lymphoepithelioma-like lesions in that it lacks an association with Epstein–Barr virus (EBV). Case Report: A 67-year-old female underwent an excisional biopsy for a firm left breast mass, favoured clinically to represent fat necrosis. Pathological examination revealed a dense mixed lymphoplasmacytic population partially obscuring small groups and discohesive sheets of larger atypical cells, initially prompting suspicion of a lymphoma. Immunohistochemistry demonstrated cytokeratin positivity (AE1/3, EMA, CK7) in this atypical population whilst lymphoid markers were restricted to background inflammatory cells. EBER-ISH was negative. ER, PR and HER2 were negative. As the lesion extended to biopsy margins re-excision of margins in addition to sentinel node biopsy were performed. This demonstrated focal residual disease with no evidence of nodal metastasis. The patient remains well at the time of this report. Discussion: LELC may pose a diagnostic challenge, particularly in small biopsies. We report the clinicopathological findings in this case in conjunction with a brief review of the relevant literature. CASE REPORT: MALIGNANT GERM CELL TUMOUR WITH PREDOMINANT EMBRYONAL CARCINOMA COMPONENT IN A DYSGENETIC GONAD Michelle Galido-Mabagos, Anita Mani Pathology North Tamworth, NSW, Australia Case summary: The patient is a 24-year-old male without preexisting medical condition who presented with left testicular swelling. Histopathologic examination of the testis revealed a malignant germ cell tumour with a predominant embryonal carcinoma component (80–90%), focal immature teratoma (less than 1%) and possible yolk sac and seminoma component. At the background are extensive intratubular germ cell neoplasia (ITGCN) and gonadoblastoma-like area suggestive of a dysgenetic gonad. The embryonal carcinoma component is OCT4, CK AE1/AE3, PLAP, CD30 and AFP positive.
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Discussion: Testicular tumour is attributed to various aetiologies including disorders of sex development including testis specific protein Y encoded gonadal dysgenesis. Presence of gonadoblastoma is an indicator for gonadal dysgenesis as evident in the case being presented. Testicular germ cell tumours are morphologically heterogenous and it is not uncommon to encounter difficulties in classifying them due to overlap in cytologic features. In tumours with an embryonal carcinoma component prompt diagnosis is essential, since these tumours have a tendency for early haematogenous spread and thus often present with metastasis at first diagnosis. Conclusion: Gonadal dysgenesis increases the risk for development of testicular germ cell tumours. Confirmation of presence of embryonal carcinoma component in a malignant germ cell tumour is essential to render prompt and appropriate treatment. PARATESTICULAR DEDIFFERENTIATED LIPOSARCOMA WITH RHABDOMYOBLASTIC DIFFERENTIATION AND HCG PRODUCTION: CASE STUDY AND LITERATURE REVIEW David Guard, Benjamin Shepherd Department of Anatomical Pathology, Pathology Queensland, Princess Alexandra Hospital, Qld, Australia Liposarcoma is among the more common soft tissue sarcomas, although its occurrence in a paratesticular location is quite rare, with only relatively small numbers of reported case series to date. We present a case of an 83-year-old male with an unusual paratesticular liposarcoma which demonstrated extensive dedifferentiation with heterologous elements including skeletal muscle differentiation, as well as possible osteosarcomatous and chondrosarcomatous elements. The patient was also noted to have a raised serum hCG, and subsequent immunohistochemistry confirmed the presence of hCG-positive mononuclear and giant cells within the tumour. CASE REPORT: CRIBRIFORM MORULAR VARIANT OF PAPILLARY CARCINOMA D. Horadagoda, W. Varikatt Anatomical Pathology, ICPMR, Westmead Hospital, Westmead, NSW, Australia Cribriform morular variant is a rare subtype of papillary thyroid carcinoma which is associated with familial adenomatous polyposis (FAP). We report a case of a 23-year-old female with a history of FAP who had undergone complete colectomy, now presenting with a thyroid tumour. Histology of the lobulated fleshy nodule involving most of the left thyroid showed an encapsulated tumour with a reasonably thick fibrous capsule showing a distinct cribriform architecture composed of fused follicles lined by tall columnar cells with moderate cytoplasm and enlarged crowded nuclei. Small morular proliferation of spindle cells lacking keratinisation was also a feature. The lumens of the follicles were devoid of colloid. In some areas focal full thickness capsular penetration was seen. No lymphovascular invasion was seen. The tumour was positive for keratin7, keratin19, high molecular weight keratin and TTF-1 but was negative for thyroglobulin.