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Joshua A Stahl - One of the best experts on this subject based on the ideXlab platform.

  • Recurrent EML4–NTRK3 fusions in infantile fibrosarcoma and congenital Mesoblastic Nephroma suggest a revised testing strategy
    Modern Pathology, 2018
    Co-Authors: Alanna J Church, Monica L Calicchio, Valentina Nardi, Alena Skalova, Andre Pinto, Deborah A Dillon, Carmen R Gomez-fernandez, Namitha Manoj, Josh D Haimes, Joshua A Stahl
    Abstract:

    Infantile fibrosarcoma and congenital Mesoblastic Nephroma are tumors of infancy traditionally associated with the ETV6–NTRK3 gene fusion. However, a number of case reports have identified variant fusions in these tumors. In order to assess the frequency of variant NTRK3 fusions, and in particular whether the recently identified EML4–NTRK3 fusion is recurrent, 63 archival cases of infantile fibrosarcoma, congenital Mesoblastic Nephroma, mammary analog secretory carcinoma and secretory breast carcinoma (tumor types that are known to carry recurrent ETV6–NTRK3 fusions) were tested with NTRK3 break-apart FISH, EML4–NTRK3 dual fusion FISH, and targeted RNA sequencing. The EML4–NTRK3 fusion was identified in two cases of infantile fibrosarcoma (one of which was previously described), and in one case of congenital Mesoblastic Nephroma, demonstrating that the EML4–NTRK3 fusion is a recurrent genetic event in these related tumors. The growing spectrum of gene fusions associated with infantile fibrosarcoma and congenital Mesoblastic Nephroma along with the recent availability of targeted therapies directed toward inhibition of NTRK signaling argue for alternate testing strategies beyond ETV6 break-apart FISH. The use of either NTRK3 FISH or next-generation sequencing will expand the number of cases in which an oncogenic fusion is identified and facilitate optimal diagnosis and treatment for patients.

Orhan Ziylan - One of the best experts on this subject based on the ideXlab platform.

  • Prenatal sonographic diagnosis of multicystic congenital Mesoblastic Nephroma.
    Journal of clinical ultrasound : JCU, 2012
    Co-Authors: Aytul Corbacioglu Esmer, Ibrahim Kalelioglu, Isin Kilicaslan, Feryal Gun, Orhan Ziylan
    Abstract:

    The authors report an unusual presentation of congenital Mesoblastic Nephroma as a multilocular cystic renal lesion. Prenatal sonography revealed a unilateral, encapsulated, multilocular cystic mass with solid components measuring 5.7 × 5.4 × 4.3 cm in the left renal fossa. There was no increase in vascularity and no signs of hydrops fetalis. On the forth postnatal day left-sided radical nephrectomy was performed and histopathological examination revealed cellular type congenital Mesoblastic Nephroma. A multicystic appearance is rare as the vast majority of prenatally diagnosed congenital Mesoblastic Nephroma cases presented in the literature are of the classic type with solid homogenous or heterogenous appearence.

  • Prenatal sonographic diagnosis of multicystic congenital Mesoblastic Nephroma
    Journal of Clinical Ultrasound, 2012
    Co-Authors: Aytul Corbacioglu Esmer, Ibrahim Kalelioglu, Isin Kilicaslan, Feryal Gun, Orhan Ziylan
    Abstract:

    The authors report an unusual presentation of congenital Mesoblastic Nephroma as a multilocular cystic renal lesion. Prenatal sonography revealed a unilateral, encapsulated, multilocular cytic mass with solid components measuring 5.7 × 5.4 × 4.3 cm in the left renal fossa. There was no increase in vascularity and no signs of hydrops fetalis. On the forth postnatal day left-sided radical nephrectomy was performed and histopathological examination revealed cellular type congenital Mesoblastic Nephroma. A multicystic appearance is rare as the vast majority of prenatally diagnosed congenital Mesoblastic Nephroma cases presented in the literature are of the classic type with solid homogenous or heterogenous appearence. © 2012 Wiley Periodicals, Inc. J Clin Ultrasound 41:59–61, 2013

Alanna J Church - One of the best experts on this subject based on the ideXlab platform.

  • Recurrent EML4–NTRK3 fusions in infantile fibrosarcoma and congenital Mesoblastic Nephroma suggest a revised testing strategy
    Modern Pathology, 2018
    Co-Authors: Alanna J Church, Monica L Calicchio, Valentina Nardi, Alena Skalova, Andre Pinto, Deborah A Dillon, Carmen R Gomez-fernandez, Namitha Manoj, Josh D Haimes, Joshua A Stahl
    Abstract:

    Infantile fibrosarcoma and congenital Mesoblastic Nephroma are tumors of infancy traditionally associated with the ETV6–NTRK3 gene fusion. However, a number of case reports have identified variant fusions in these tumors. In order to assess the frequency of variant NTRK3 fusions, and in particular whether the recently identified EML4–NTRK3 fusion is recurrent, 63 archival cases of infantile fibrosarcoma, congenital Mesoblastic Nephroma, mammary analog secretory carcinoma and secretory breast carcinoma (tumor types that are known to carry recurrent ETV6–NTRK3 fusions) were tested with NTRK3 break-apart FISH, EML4–NTRK3 dual fusion FISH, and targeted RNA sequencing. The EML4–NTRK3 fusion was identified in two cases of infantile fibrosarcoma (one of which was previously described), and in one case of congenital Mesoblastic Nephroma, demonstrating that the EML4–NTRK3 fusion is a recurrent genetic event in these related tumors. The growing spectrum of gene fusions associated with infantile fibrosarcoma and congenital Mesoblastic Nephroma along with the recent availability of targeted therapies directed toward inhibition of NTRK signaling argue for alternate testing strategies beyond ETV6 break-apart FISH. The use of either NTRK3 FISH or next-generation sequencing will expand the number of cases in which an oncogenic fusion is identified and facilitate optimal diagnosis and treatment for patients.

A Trillo - One of the best experts on this subject based on the ideXlab platform.

  • adult variant of congenital Mesoblastic Nephroma
    Archives of Pathology & Laboratory Medicine, 1990
    Co-Authors: A Trillo
    Abstract:

    Congenital Mesoblastic Nephroma is a relatively rare tumor predominantly of childhood. Occurrence in adults is exceedingly rare and, to my knowledge, only two cases have been reported to date. This article pertains to a Mesoblastic Nephroma in a 41-year-old woman. The tumor was composed mainly of compact fibrocollagenous elements interspersed with areas containing immature tubules and occasionally glomeruloid structures. There was no evidence of capsular or renal invasion or cytological malignant features. It has been postulated that this neoplasm may represent a form of mature Wilms' tumor with a benign clinical course.

Serdar Tekgul - One of the best experts on this subject based on the ideXlab platform.

  • Cellular congenital Mesoblastic Nephroma with contralateral medullary nephrocalcinosis
    The British Journal of Radiology, 2004
    Co-Authors: Arzu Ozturk, Mithat Haliloglu, Erhan Akpinar, Serdar Tekgul
    Abstract:

    Congenital Mesoblastic Nephroma is the most common renal mass in the newborn period and can present with atypical findings. Certain associated conditions such as hypercalcaemia, hypertension and reninism have been described. We report a cellular variant of congenital Mesoblastic Nephroma with hypercalcaemia and contralateral medullary nephrocalcinosis.

  • Case report Cellular congenital Mesoblastic Nephroma with contralateral medullary nephrocalcinosis
    2004
    Co-Authors: Arzu Ozturk, Mithat Haliloglu, Erhan Akpinar, Serdar Tekgul
    Abstract:

    Congenital Mesoblastic Nephroma is the most common renal mass in the newborn period and can present with atypical findings. Certain associated conditions such as hypercalcaemia, hypertension and reninism have been described. We report a cellular variant of congenital Mesoblastic Nephroma with hypercalcaemia and contralateral medullary nephrocalcinosis. Congenital Mesoblastic Nephroma (CMN) is a rare benign congenital renal tumour in children but is the most common renal tumour under the age of 6 months, accounting for almost half of renal tumours in this age group. CMN was first described by Bolande as a unique renal tumour distinct from Wilms tumour (1). A patho- logical spectrum, which ranges from the benign typical CMN to the malignant spindle cell variety, has been previously described. The cellular variant of CMN has a less favourable prognosis, primarily occurring in infants over 3 months of age. CMN has been reported to be associated with hypercalcaemia, hypertension, reninism and other examples of ectopic hormone production (2-4). We report a case of congenital Mesoblastic Nephroma associated with hypercalcaemia and contralateral medul- lary nephrocalcinosis.