- Email: [email protected]
Para-adnexal choriocarcinoma in a woman previously diagnosed with complete hydatidiform mole
S80
PATHOLOGY 2013 ABSTRACT SUPPLEMENT
both the optic nerves and optic chiasma. Histopathology showed a pure germinoma. Conclusion: Central nervous system germinoma is a rare neoplasm. Pure germinoma is a highly curable tumour. It primarily affects children and teenagers; therefore, curing germinoma with minimal ongoing morbidity is an important issue.
DETECTION OF ALK RE-ARRANGEMENT IN NON-SMALL CELL LUNG CARCINOMA: CORRELATION OF RESULTS BY FISH AND D5F3 IMMUNOHISTOCHEMISTRY Min Ru Qiu1, Adrienne Morey1, Angela Chou1, Emily Stone2, Belinda Brown1, Denise Riley1, Connie Liao1, and Gary Gracie1 1Department of Tissue and Molecular Pathology, SydPATH, and 2Department of Thoracic medicine, St Vincent’s Hospital, Sydney, NSW, Australia
Pathology (2013), 45(S1)
Results: At laparotomy a bleeding mass was identified in the greater omentum and histopathology revealed trophoblastic cells implanting into omental tissue confirming a primary omental ectopic pregnancy. Discussion: This rare and serious tumour poses difficulties in differentiating primary from secondary omental ectopic pregnancies. The clinical literature suggests there is difficulty in diagnosing these pregnancies clinically and a laparotomy is normally required. Pathological diagnosis is aided by knowledge of the clinical scenario and immunocytochemistry for identification of trophoblast and other cell types in the implantation site.
HISTOLOGICAL AND ELECTRON MICR OSCOPY FINDINGS IN FABRY DISEASE CARDIOMYOPATHY: A CASE REPORT J. Renthawa1, M. Shingde1, R. Boadle1, J. Rawal2, R. Abraham2 Pathology and Diagnostic Oncology, Westmead ICPMR, and 2Department of Cardiology, Blacktown Hospital, Sydney, NSW, Australia
1Tissue
Activating mutations or translocations of the anaplastic lymphoma kinase gene (ALK) have been identified in approximately 5% of non-small cell lung cancers. To determine patients’ eligibility for crizotinib, a tyrosine kinase inhibitor therapy, accurate assessment of ALK rearrangement is required. Fluorescence in situ hybridisation (FISH) analysis is the gold standard for detection of ALK rearrangement, however it is time consuming and expensive as an initial screening method. Reliable triage by ALK immunohistochemisty (IHC) would be clinically advantageous, however there has been some concern regarding preservation of antigenicity in pre-cut slides. We compared detection of ALK rearrangment by IHC (Cell Signalling Clone D5F3) and FISH (Vysis ALK break apart probe) on 52 selected cases of non-small cell lung carcinoma. Of eight cases found to be positive by FISH, seven showed positive staining by IHC. No false positive IHC results were found (98% overall concordance). ALK reactivity was preserved in control sections prepared over 3 weeks prior to staining. ALK IHC with antibody D5F3 therefore would appear to be a reliable triage method for detecting ALK gene rearragement, although occasional cases may show discordance; if there is strong clinical suspicion of an ALK-rearranged tumour, FISH testing should not be refused.
PRIMARY OMENTAL ECTOPIC PREGNANCY: A CASE REPORT R. Rawson1, B. Vandeville2, B. Haylen2, N. Kumaradevan3, C. Loo1 1Anatomical Pathology Department, Prince of Wales Hospital, Randwick, 2Obstetrics and Gynaecology Department, St Vincent’s Hospital, Darlinghurst, 3SydPath, St Vincent’s Hospital, Darlinghurst, NSW, Australia Aims: We review a case of a rare form of ectopic pregnancy, a primary omental ectopic pregnancy. Methods: Ectopic pregnancy is the leading cause of pregnancy related death in the first trimester. Abdominal pregnancy is the least common of sites for ectopic pregnancies to occur. We review a case of a 19-year-old female who presented with severe epigastric pain who had a primary omental ectopic pregnancy diagnosed at laparotomy. We also review the various diagnostic and management difficulties that are encountered in these rare cases.
Aim: To understand the features and role of histological and electron microscopy findings in a cardiac biopsy from patients with suspected Fabry disease. Methods: Report of a recent case and review of current literature on the histological and ultrastructural findings in Fabry disease cardiomyopathy. Results: Perinuclear vacuolisation of cardiac myocytes was seen on light microscopy and dense concentric lamellar bodies or myelin figures were present on electron microscopy. Discussion: The light microscopy findings are non-specific and can be seen in a range of metabolic and non-metabolic diseases. The diagnosis of Fabry disease must be complemented by electron microscopy, biochemical findings and ultimately genetic studies.
PARA-ADNEXAL CHORIOCARCINOMA IN A WOMAN PREVIOUSLY DIAGNOSED WITH COMPLETE HYDATIDIFORM MOLE J. Renthawa1, R. Sharma1, A. Brand2 1Tissue Pathology and Diagnostic Oncology, Westmead ICPMR, and 2Department of Gynaecological Oncology, Westmead Hospital, Westmead, NSW, Australia Aim: To understand the long-term sequelae of complete molar pregnancy and identify potential sites of choriocarcinoma. Methods: Case report of a recent metastatic choriocarcinoma identified within para-adnexal tissue in a patient with persistently elevated serum beta-HCG, previously diagnosed with complete molar pregnancy on endometrial curettings. Review of current literature. Results: The potential complications of complete molar pregnancy include persistent or metastatic gestational trophoblastic disease. Choriocarcinoma is a complication in 2–5% of cases and is typically identified intrauterine or as a distant metastasis. Rare sites of occurrences such as ovary and fallopian tube have been reported. Discussion: Choriocarcinoma is an uncommon outcome in complete molar pregnancy. Careful examination of hysterectomy and salpingo-oopherectomy specimens is crucial to determine the
Copyright © Royal College of pathologists of Australasia. Unauthorized reproduction of this article is prohibited.
ABSTRACTS
cause of persistently elevated serum beta-HCG levels in women diagnosed and treated for complete molar pregnancy.
LINITIS PLASTICA OF THE BOWEL SECONDARY TO DISSEMINATED TRANSITIONAL CELL CARCINOMA: POST-MORTEM CASE REPORT AND LITERATURE REVIEW TeWhiti Rogers St John of God Pathology, Geelong, Vic, Australia We present the post-mortem case of a 71-year-old female admitted with persistent nausea, vomiting and diarrhoea. Laparotomy revealed multiple small and large bowel strictures. Sigmoidoscopy demonstrated a rectal stricture with ‘cobble-stoned’ mucosa. The clinical differential diagnosis included a possible infective, inflammatory or neoplastic disease process. However rectal endoscopic biopsies showed undifferentiated carcinoma with malignant cells diffusely infiltrating submucosa and muscularis propria. Past medical history included a bladder urothelial carcinoma resection in 2010. Due to the unusual clinical presentation, a post-mortem examination was requested. The autopsy findings confirmed multiple bowel strictures apparently due to concentric fibrosis of muscularis propria, involving the distal jejunum, terminal ileum, transverse colon and rectum, with associated mucosa cobblestoning. However, histology showed a diffuse transmural infiltration of malignant tumour cells, with relative mucosal sparing. Immunohistochemically, tumour cells stained positive for CK7, CK20, HMWCK and thrombomodulin. Previous bladder histology was reviewed and showed morphologically similar malignant tumour cells. Only a few rare case reports of metastatic bladder carcinoma presenting with features of linitis plastica have been reported in the literature. Case presentation including gross and microscopic pathological findings and detailed literature review will be provided.
MALIGNANT MELANOCYTIC LESIONS ARISING IN MATURE CYSTIC TERATOMAS Jawad Saab, Leonardo D. Santos, Katherine Nicoll Sydney South West Pathology Services, Liverpool Hospital, Liverpool, NSW, Australia Benign mature cystic teratomas (MCT) are diagnosed commonly in surgical pathology. However, malignancy arising in teratomas is uncommon and occurs in approximately 1% of cases with most being of epithelial origin. The literature contains occasional case reports describing melanocytic lesions arising in MCT. We present two such cases occurring in the Sydney South West Pathology Services, Liverpool. Within the last 10 years there have been 294 cases of MCT and of these only two have contained malignant melanocytic lesions. The most recent was reported in June 2012 in a 38-year-old female. The MCT contained a carcinoid tumour and a severely dysplastic compound melanocytic lesion resembling lentigo maligna of the skin. A retrospective search in our local area health network found a second case described in 2003 of malignant melanoma occurring in a mature cystic teratoma in a 48-year-old female who was found to have multiple lung, pleural, vertebral and mediastinal lymph node metastases and died 15 months after diagnosis. Malignant melanocytic lesions occur very rarely in mature
S81
cystic teratomas and as our retrospective case highlights, they can have serious clinical implications. COLORECTAL MIXED ADENO-NEUROENDOCRINE CARCINOMAS Jawad Saab, Leonardo D. Santos. Sydney South West Pathology Services, Liverpool Hospital, Liverpool, NSW, Australia Mixed adeno-neuroendocrine carcinomas (MANEC) are rare gastrointestinal neoplasms most commonly diagnosed in the large bowel. They contain mixed exocrine and endocrine components and for diagnosis at least 30% of either component must be identified. We present two recent cases, the first of which was a 69-yearold male who presented with anaemia and weight loss and was found to have a rectal tumour. He received combined chemoradiotherapy and subsequent surgery revealed a 15 mm MANEC invading into the perirectal tissue. The tumour showed radiationinduced changes with neuroendocrine carcinoma adjacent to adenocarcinoma. The second case was a 75-year-old male who presented with obstructive symptoms and a palpable abdominal mass. Following surgery, he was found to have a 95 mm MANEC in the ascending colon invading into the pericolic tissue. Both cases were confirmed using neuroendocrine immunohistochemical markers. Positive staining of the neuroendocrine components was seen with at least two of CD56, synaptophysin and chromogranin. The current World Health Organization (2010) classification recognises that size >20 mm, invasion of the muscularis propria, lymphatic invasion and atypical histology are significant risk factors for malignant behaviour. The two cases presented contain most, if not all of these factors. A NEEDLE IN A HAY STACK: THE IDENTIFICATION OF LE CELLS IN PLEURAL FLUID CYTOLOGY LEADING TO A DIAGNOSIS OF SYSTEMIC LUPUS ERYTHEMATOSUS Dushyanti Samarasinghe, Nanise Cuthers Waikato Hospital, Hamilton, New Zealand The diagnosis of systemic lupus erythematosus (SLE), a chronic inflammatory autoimmune disorder, is usually made by a combination of physical and laboratory findings including autoimmune serology. Pulmonary and pleural involvement in SLE is common and the finding of LE cells in pleural fluid cytology is highly specific for SLE. LE cells are neutrophils that contain phagocytosed debris from dead or injured cells that have been targeted by anti-DNA antibodies. We present a 26-year-old female with known Sjogren’s syndrome who presented with right-sided pneumonia and pleural effusion. Cytological examination revealed an exudative pleural effusion within which occasional LE cells were identified, leading to the diagnosis of SLE. This case demonstrates the importance of intense screening of cytological samples in identifying a vital clue to the diagnosis of SLE. BILATERAL VULVAR ERUPTIVE VELLUS HAIR CYSTS Sanaz Sasani, Leonardo D. Santos Department of Anatomical Pathology, Sydney South West Area Health Service, Liverpool, NSW, Australia
Copyright © Royal College of pathologists of Australasia. Unauthorized reproduction of this article is prohibited.
PATHOLOGY 2013 ABSTRACT SUPPLEMENT
both the optic nerves and optic chiasma. Histopathology showed a pure germinoma. Conclusion: Central nervous system germinoma is a rare neoplasm. Pure germinoma is a highly curable tumour. It primarily affects children and teenagers; therefore, curing germinoma with minimal ongoing morbidity is an important issue.
DETECTION OF ALK RE-ARRANGEMENT IN NON-SMALL CELL LUNG CARCINOMA: CORRELATION OF RESULTS BY FISH AND D5F3 IMMUNOHISTOCHEMISTRY Min Ru Qiu1, Adrienne Morey1, Angela Chou1, Emily Stone2, Belinda Brown1, Denise Riley1, Connie Liao1, and Gary Gracie1 1Department of Tissue and Molecular Pathology, SydPATH, and 2Department of Thoracic medicine, St Vincent’s Hospital, Sydney, NSW, Australia
Pathology (2013), 45(S1)
Results: At laparotomy a bleeding mass was identified in the greater omentum and histopathology revealed trophoblastic cells implanting into omental tissue confirming a primary omental ectopic pregnancy. Discussion: This rare and serious tumour poses difficulties in differentiating primary from secondary omental ectopic pregnancies. The clinical literature suggests there is difficulty in diagnosing these pregnancies clinically and a laparotomy is normally required. Pathological diagnosis is aided by knowledge of the clinical scenario and immunocytochemistry for identification of trophoblast and other cell types in the implantation site.
HISTOLOGICAL AND ELECTRON MICR OSCOPY FINDINGS IN FABRY DISEASE CARDIOMYOPATHY: A CASE REPORT J. Renthawa1, M. Shingde1, R. Boadle1, J. Rawal2, R. Abraham2 Pathology and Diagnostic Oncology, Westmead ICPMR, and 2Department of Cardiology, Blacktown Hospital, Sydney, NSW, Australia
1Tissue
Activating mutations or translocations of the anaplastic lymphoma kinase gene (ALK) have been identified in approximately 5% of non-small cell lung cancers. To determine patients’ eligibility for crizotinib, a tyrosine kinase inhibitor therapy, accurate assessment of ALK rearrangement is required. Fluorescence in situ hybridisation (FISH) analysis is the gold standard for detection of ALK rearrangement, however it is time consuming and expensive as an initial screening method. Reliable triage by ALK immunohistochemisty (IHC) would be clinically advantageous, however there has been some concern regarding preservation of antigenicity in pre-cut slides. We compared detection of ALK rearrangment by IHC (Cell Signalling Clone D5F3) and FISH (Vysis ALK break apart probe) on 52 selected cases of non-small cell lung carcinoma. Of eight cases found to be positive by FISH, seven showed positive staining by IHC. No false positive IHC results were found (98% overall concordance). ALK reactivity was preserved in control sections prepared over 3 weeks prior to staining. ALK IHC with antibody D5F3 therefore would appear to be a reliable triage method for detecting ALK gene rearragement, although occasional cases may show discordance; if there is strong clinical suspicion of an ALK-rearranged tumour, FISH testing should not be refused.
PRIMARY OMENTAL ECTOPIC PREGNANCY: A CASE REPORT R. Rawson1, B. Vandeville2, B. Haylen2, N. Kumaradevan3, C. Loo1 1Anatomical Pathology Department, Prince of Wales Hospital, Randwick, 2Obstetrics and Gynaecology Department, St Vincent’s Hospital, Darlinghurst, 3SydPath, St Vincent’s Hospital, Darlinghurst, NSW, Australia Aims: We review a case of a rare form of ectopic pregnancy, a primary omental ectopic pregnancy. Methods: Ectopic pregnancy is the leading cause of pregnancy related death in the first trimester. Abdominal pregnancy is the least common of sites for ectopic pregnancies to occur. We review a case of a 19-year-old female who presented with severe epigastric pain who had a primary omental ectopic pregnancy diagnosed at laparotomy. We also review the various diagnostic and management difficulties that are encountered in these rare cases.
Aim: To understand the features and role of histological and electron microscopy findings in a cardiac biopsy from patients with suspected Fabry disease. Methods: Report of a recent case and review of current literature on the histological and ultrastructural findings in Fabry disease cardiomyopathy. Results: Perinuclear vacuolisation of cardiac myocytes was seen on light microscopy and dense concentric lamellar bodies or myelin figures were present on electron microscopy. Discussion: The light microscopy findings are non-specific and can be seen in a range of metabolic and non-metabolic diseases. The diagnosis of Fabry disease must be complemented by electron microscopy, biochemical findings and ultimately genetic studies.
PARA-ADNEXAL CHORIOCARCINOMA IN A WOMAN PREVIOUSLY DIAGNOSED WITH COMPLETE HYDATIDIFORM MOLE J. Renthawa1, R. Sharma1, A. Brand2 1Tissue Pathology and Diagnostic Oncology, Westmead ICPMR, and 2Department of Gynaecological Oncology, Westmead Hospital, Westmead, NSW, Australia Aim: To understand the long-term sequelae of complete molar pregnancy and identify potential sites of choriocarcinoma. Methods: Case report of a recent metastatic choriocarcinoma identified within para-adnexal tissue in a patient with persistently elevated serum beta-HCG, previously diagnosed with complete molar pregnancy on endometrial curettings. Review of current literature. Results: The potential complications of complete molar pregnancy include persistent or metastatic gestational trophoblastic disease. Choriocarcinoma is a complication in 2–5% of cases and is typically identified intrauterine or as a distant metastasis. Rare sites of occurrences such as ovary and fallopian tube have been reported. Discussion: Choriocarcinoma is an uncommon outcome in complete molar pregnancy. Careful examination of hysterectomy and salpingo-oopherectomy specimens is crucial to determine the
Copyright © Royal College of pathologists of Australasia. Unauthorized reproduction of this article is prohibited.
ABSTRACTS
cause of persistently elevated serum beta-HCG levels in women diagnosed and treated for complete molar pregnancy.
LINITIS PLASTICA OF THE BOWEL SECONDARY TO DISSEMINATED TRANSITIONAL CELL CARCINOMA: POST-MORTEM CASE REPORT AND LITERATURE REVIEW TeWhiti Rogers St John of God Pathology, Geelong, Vic, Australia We present the post-mortem case of a 71-year-old female admitted with persistent nausea, vomiting and diarrhoea. Laparotomy revealed multiple small and large bowel strictures. Sigmoidoscopy demonstrated a rectal stricture with ‘cobble-stoned’ mucosa. The clinical differential diagnosis included a possible infective, inflammatory or neoplastic disease process. However rectal endoscopic biopsies showed undifferentiated carcinoma with malignant cells diffusely infiltrating submucosa and muscularis propria. Past medical history included a bladder urothelial carcinoma resection in 2010. Due to the unusual clinical presentation, a post-mortem examination was requested. The autopsy findings confirmed multiple bowel strictures apparently due to concentric fibrosis of muscularis propria, involving the distal jejunum, terminal ileum, transverse colon and rectum, with associated mucosa cobblestoning. However, histology showed a diffuse transmural infiltration of malignant tumour cells, with relative mucosal sparing. Immunohistochemically, tumour cells stained positive for CK7, CK20, HMWCK and thrombomodulin. Previous bladder histology was reviewed and showed morphologically similar malignant tumour cells. Only a few rare case reports of metastatic bladder carcinoma presenting with features of linitis plastica have been reported in the literature. Case presentation including gross and microscopic pathological findings and detailed literature review will be provided.
MALIGNANT MELANOCYTIC LESIONS ARISING IN MATURE CYSTIC TERATOMAS Jawad Saab, Leonardo D. Santos, Katherine Nicoll Sydney South West Pathology Services, Liverpool Hospital, Liverpool, NSW, Australia Benign mature cystic teratomas (MCT) are diagnosed commonly in surgical pathology. However, malignancy arising in teratomas is uncommon and occurs in approximately 1% of cases with most being of epithelial origin. The literature contains occasional case reports describing melanocytic lesions arising in MCT. We present two such cases occurring in the Sydney South West Pathology Services, Liverpool. Within the last 10 years there have been 294 cases of MCT and of these only two have contained malignant melanocytic lesions. The most recent was reported in June 2012 in a 38-year-old female. The MCT contained a carcinoid tumour and a severely dysplastic compound melanocytic lesion resembling lentigo maligna of the skin. A retrospective search in our local area health network found a second case described in 2003 of malignant melanoma occurring in a mature cystic teratoma in a 48-year-old female who was found to have multiple lung, pleural, vertebral and mediastinal lymph node metastases and died 15 months after diagnosis. Malignant melanocytic lesions occur very rarely in mature
S81
cystic teratomas and as our retrospective case highlights, they can have serious clinical implications. COLORECTAL MIXED ADENO-NEUROENDOCRINE CARCINOMAS Jawad Saab, Leonardo D. Santos. Sydney South West Pathology Services, Liverpool Hospital, Liverpool, NSW, Australia Mixed adeno-neuroendocrine carcinomas (MANEC) are rare gastrointestinal neoplasms most commonly diagnosed in the large bowel. They contain mixed exocrine and endocrine components and for diagnosis at least 30% of either component must be identified. We present two recent cases, the first of which was a 69-yearold male who presented with anaemia and weight loss and was found to have a rectal tumour. He received combined chemoradiotherapy and subsequent surgery revealed a 15 mm MANEC invading into the perirectal tissue. The tumour showed radiationinduced changes with neuroendocrine carcinoma adjacent to adenocarcinoma. The second case was a 75-year-old male who presented with obstructive symptoms and a palpable abdominal mass. Following surgery, he was found to have a 95 mm MANEC in the ascending colon invading into the pericolic tissue. Both cases were confirmed using neuroendocrine immunohistochemical markers. Positive staining of the neuroendocrine components was seen with at least two of CD56, synaptophysin and chromogranin. The current World Health Organization (2010) classification recognises that size >20 mm, invasion of the muscularis propria, lymphatic invasion and atypical histology are significant risk factors for malignant behaviour. The two cases presented contain most, if not all of these factors. A NEEDLE IN A HAY STACK: THE IDENTIFICATION OF LE CELLS IN PLEURAL FLUID CYTOLOGY LEADING TO A DIAGNOSIS OF SYSTEMIC LUPUS ERYTHEMATOSUS Dushyanti Samarasinghe, Nanise Cuthers Waikato Hospital, Hamilton, New Zealand The diagnosis of systemic lupus erythematosus (SLE), a chronic inflammatory autoimmune disorder, is usually made by a combination of physical and laboratory findings including autoimmune serology. Pulmonary and pleural involvement in SLE is common and the finding of LE cells in pleural fluid cytology is highly specific for SLE. LE cells are neutrophils that contain phagocytosed debris from dead or injured cells that have been targeted by anti-DNA antibodies. We present a 26-year-old female with known Sjogren’s syndrome who presented with right-sided pneumonia and pleural effusion. Cytological examination revealed an exudative pleural effusion within which occasional LE cells were identified, leading to the diagnosis of SLE. This case demonstrates the importance of intense screening of cytological samples in identifying a vital clue to the diagnosis of SLE. BILATERAL VULVAR ERUPTIVE VELLUS HAIR CYSTS Sanaz Sasani, Leonardo D. Santos Department of Anatomical Pathology, Sydney South West Area Health Service, Liverpool, NSW, Australia
Copyright © Royal College of pathologists of Australasia. Unauthorized reproduction of this article is prohibited.