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Disseminated CMV – a case report and study
ABSTRACTS
Discussion: The criteria for ALK IHC positivity needs to be reviewed in our institution to reduce the number of false positive cases. Mutational analysis of the false positive cases should be considered for further evaluation. References
Soda M, Choi YL, Enomoto M, et al. Identification of the transforming EML4-ALK fusion gene in non-small cell lung cancer. Nature 2007; 448: 561–6. Choi YL, Takeuchi K, Soda M, et al. Identification of novel isoforms of EML4-ALK transforming gene in non-small cell lung cancer. Cancer Res 2008; 68: 4971.
SUPERFICIAL CUTANEOUS LEIOMYOSARCOMA – CASE REPORTS Katerina Politis, Simon Nazaretian Anatomical Pathology Department, Australian Clinical Labs, Clayton Melbourne, Vic, Australia Primary cutaneous leiomyosarcomas are uncommon malignant soft tissue sarcomas that account for 5–10% of all soft tissue sarcomas. They are subdivided into two types: superficial cutaneous and deep subcutaneous types. Superficial cutaneous leiomyosarcoma (SCL) is a rare subtype and accounts for 2–3% of all soft tissue sarcomas and has a favourable prognosis due to the lack of involvement of the subcutaneous tissue. This case study reports two cases of SCLs arising in the right ear of a 76year-old male and in the presternal region of a 67-year-old female. RHABDOID GLIOBLASTOMA: A RARE IDH-WILDTYPE EPITHELIOID GLIOBLASTOMA Alison Potter, Amir Hadji-Ashrafy Department of Anatomical Pathology, Nepean Hospital, NSW Health Pathology, NSW, Australia Many tumours are known to demonstrate a rhabdoid phenotype, including those of renal, liver, skin, neural, soft tissue and pelvic origin. Within the central nervous system, atypical teratoid/ rhabdoid tumours (AT/RT), and less commonly, meningioma and glioblastoma, are seen to display rhabdoid differentiation. Rhabdoid glioblastoma has been reported in approximately 30 cases, the majority of which are in young patients. The entity has been recently classified by the World Health Organization, under the IDH-wildtype epithelioid variant. This case report presents the distinct morphologic variant of rhabdoid glioblastoma in an elderly man. The high-grade lesion demonstrates a mostly necrotic tumour, comprised of large cells with pleomorphic eccentric nuclei, prominent central nucleoli and abundant eosinophilic cytoplasm. The tumour cells are GFAP positive, INH1/2 mutation negative, and show retained INI-1 expression, distinguishing the rare rhabdoid glioblastoma from the more common AT/RT. DISSEMINATED CMV – A CASE REPORT AND STUDY Stacey Prystupa, Jessica Ng Anatomical Pathology Department, Royal Women’s Hospital, Melbourne, Vic, Australia
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This is a case study of a perinatal autopsy performed at 22 weeks gestation. The foetus was terminated due to a poor prognosis that was given due to multiple abnormalities seen on MRI at 21 weeks gestation. A full autopsy confirmed the MRI findings. Histologically the placenta and multiple foetal organs had viral inclusions that were confirmed to be cytomegalovirus (CMV) by immunohistochemistry. On review of the mother’s antenatal records, the CMV results indicated past exposure with a negative IgM and positive IgG. The treating team did not expect CMV due to the antenatal results and a review was conducted, which indicated the mother likely contracted CMV within the 3 months prior to conceiving. Research shows that preconceptual, periconceptual, and 1st trimester CMV infections are likely to confer worse perinatal outcomes including perinatal death and severe congenital defects. Reference Picone O, Vauloup-Fellous C, Cordier AG, et al. A series of 238 cytomegalovirus primary infections during pregnancy: description and outcome. Prenatal Diagn 2013; 33: 751–8.
MESENCHYMAL DYSPLASIA – A CASE REPORT AND STUDY Stacey Prystupa, Virginia Billson Anatomical Pathology Department, Royal Women’s Hospital, Melbourne, Vic, Australia This is a case report of a placenta referred due to an antenatal diagnosis of possible mesenchymal dysplasia. At macroscopic examination, the placenta had a wedge shaped pale area consisting of multiple cystic lesions and vesicles occupying 25% of the placental volume. Histologically the placenta showed enlarged stem vessels with overgrowth of the fibroblastic stroma, myxoid and cystic appearance, with dilated vessels, and calcifications. The non-lesional placenta showed normal 3rd trimester development. Mesenchymal dysplasia is a rare condition of placentomegaly and up to 80% of infants are of female gender. It is associated with Beckwith-Wiedemann syndrome (BWS), IUGR and perinatal death. Multiple pathogenic and genetic theories have been proposed but the cause is unclear. References
Pham T, Steele J, Stayboldt C, et al. Placental mesenchymal dysplasia is associated with high rates of intrauterine growth restriction and fetal demise: a report of 11 new cases and a review of the literature. Am J Clin Pathol 2006; 126: 67–8. Woo GW1, Rocha FG, Gaspar-Oishi M, et al. Placental mesenchymal dysplasia. Am J Obstet Gynecol 2011; 205: e3–5.
CHONDROBLASTOMA OF THE LEFT PUBIC TUBERCLE: A CASE REPORT Jipson Quah, Kesavan Sittampalam Department of Pathology, Histopathology Section, Singapore General Hospital, Singapore We report a case of chondroblastoma, which occurred in a skeletally mature female, as an incidental radiological finding of left pubic tubercle bony lesion. The initial biopsy showed interspersed giant cells, intervening epithelioid cells with grooved nuclei and small amounts of eosinophilic stromal chondroid. The resection however, showed sheets of epithelioid
Discussion: The criteria for ALK IHC positivity needs to be reviewed in our institution to reduce the number of false positive cases. Mutational analysis of the false positive cases should be considered for further evaluation. References
Soda M, Choi YL, Enomoto M, et al. Identification of the transforming EML4-ALK fusion gene in non-small cell lung cancer. Nature 2007; 448: 561–6. Choi YL, Takeuchi K, Soda M, et al. Identification of novel isoforms of EML4-ALK transforming gene in non-small cell lung cancer. Cancer Res 2008; 68: 4971.
SUPERFICIAL CUTANEOUS LEIOMYOSARCOMA – CASE REPORTS Katerina Politis, Simon Nazaretian Anatomical Pathology Department, Australian Clinical Labs, Clayton Melbourne, Vic, Australia Primary cutaneous leiomyosarcomas are uncommon malignant soft tissue sarcomas that account for 5–10% of all soft tissue sarcomas. They are subdivided into two types: superficial cutaneous and deep subcutaneous types. Superficial cutaneous leiomyosarcoma (SCL) is a rare subtype and accounts for 2–3% of all soft tissue sarcomas and has a favourable prognosis due to the lack of involvement of the subcutaneous tissue. This case study reports two cases of SCLs arising in the right ear of a 76year-old male and in the presternal region of a 67-year-old female. RHABDOID GLIOBLASTOMA: A RARE IDH-WILDTYPE EPITHELIOID GLIOBLASTOMA Alison Potter, Amir Hadji-Ashrafy Department of Anatomical Pathology, Nepean Hospital, NSW Health Pathology, NSW, Australia Many tumours are known to demonstrate a rhabdoid phenotype, including those of renal, liver, skin, neural, soft tissue and pelvic origin. Within the central nervous system, atypical teratoid/ rhabdoid tumours (AT/RT), and less commonly, meningioma and glioblastoma, are seen to display rhabdoid differentiation. Rhabdoid glioblastoma has been reported in approximately 30 cases, the majority of which are in young patients. The entity has been recently classified by the World Health Organization, under the IDH-wildtype epithelioid variant. This case report presents the distinct morphologic variant of rhabdoid glioblastoma in an elderly man. The high-grade lesion demonstrates a mostly necrotic tumour, comprised of large cells with pleomorphic eccentric nuclei, prominent central nucleoli and abundant eosinophilic cytoplasm. The tumour cells are GFAP positive, INH1/2 mutation negative, and show retained INI-1 expression, distinguishing the rare rhabdoid glioblastoma from the more common AT/RT. DISSEMINATED CMV – A CASE REPORT AND STUDY Stacey Prystupa, Jessica Ng Anatomical Pathology Department, Royal Women’s Hospital, Melbourne, Vic, Australia
S83
This is a case study of a perinatal autopsy performed at 22 weeks gestation. The foetus was terminated due to a poor prognosis that was given due to multiple abnormalities seen on MRI at 21 weeks gestation. A full autopsy confirmed the MRI findings. Histologically the placenta and multiple foetal organs had viral inclusions that were confirmed to be cytomegalovirus (CMV) by immunohistochemistry. On review of the mother’s antenatal records, the CMV results indicated past exposure with a negative IgM and positive IgG. The treating team did not expect CMV due to the antenatal results and a review was conducted, which indicated the mother likely contracted CMV within the 3 months prior to conceiving. Research shows that preconceptual, periconceptual, and 1st trimester CMV infections are likely to confer worse perinatal outcomes including perinatal death and severe congenital defects. Reference Picone O, Vauloup-Fellous C, Cordier AG, et al. A series of 238 cytomegalovirus primary infections during pregnancy: description and outcome. Prenatal Diagn 2013; 33: 751–8.
MESENCHYMAL DYSPLASIA – A CASE REPORT AND STUDY Stacey Prystupa, Virginia Billson Anatomical Pathology Department, Royal Women’s Hospital, Melbourne, Vic, Australia This is a case report of a placenta referred due to an antenatal diagnosis of possible mesenchymal dysplasia. At macroscopic examination, the placenta had a wedge shaped pale area consisting of multiple cystic lesions and vesicles occupying 25% of the placental volume. Histologically the placenta showed enlarged stem vessels with overgrowth of the fibroblastic stroma, myxoid and cystic appearance, with dilated vessels, and calcifications. The non-lesional placenta showed normal 3rd trimester development. Mesenchymal dysplasia is a rare condition of placentomegaly and up to 80% of infants are of female gender. It is associated with Beckwith-Wiedemann syndrome (BWS), IUGR and perinatal death. Multiple pathogenic and genetic theories have been proposed but the cause is unclear. References
Pham T, Steele J, Stayboldt C, et al. Placental mesenchymal dysplasia is associated with high rates of intrauterine growth restriction and fetal demise: a report of 11 new cases and a review of the literature. Am J Clin Pathol 2006; 126: 67–8. Woo GW1, Rocha FG, Gaspar-Oishi M, et al. Placental mesenchymal dysplasia. Am J Obstet Gynecol 2011; 205: e3–5.
CHONDROBLASTOMA OF THE LEFT PUBIC TUBERCLE: A CASE REPORT Jipson Quah, Kesavan Sittampalam Department of Pathology, Histopathology Section, Singapore General Hospital, Singapore We report a case of chondroblastoma, which occurred in a skeletally mature female, as an incidental radiological finding of left pubic tubercle bony lesion. The initial biopsy showed interspersed giant cells, intervening epithelioid cells with grooved nuclei and small amounts of eosinophilic stromal chondroid. The resection however, showed sheets of epithelioid