A Uncommon Case: Kasabach-Merritt syndrome with VACTERL Association
We present a case of a mature male neonate with Kasabach-Merritt- Syndrome as well as VACTERL association. The VACTERL association describes a group of malformations. Our patient presented with anal atresia combined with tethered cord, and left renal agenesis. The VACTERL association as well as Kasabach-Merritt syndrome were found to be independent pathologies within this patient. A common occurrence or an association with each other has not been described in the literature so far. The challenging coagulation setting due to severe thrombocytopenia complicated the surgical management so far. Finally, mTOR-inhibitor sirolimu...
Source: Zeitschrift fur Geburtshilfe und Neonatologie - March 1, 2024 Category: Perinatology & Neonatology Authors: Melanie Le Katharina Wenke Jochen Herrmann Dominique Singer Mario Lange Source Type: research
A Uncommon Case: Kasabach-Merritt syndrome with VACTERL Association
We present a case of a mature male neonate with Kasabach-Merritt- Syndrome as well as VACTERL association. The VACTERL association describes a group of malformations. Our patient presented with anal atresia combined with tethered cord, and left renal agenesis. The VACTERL association as well as Kasabach-Merritt syndrome were found to be independent pathologies within this patient. A common occurrence or an association with each other has not been described in the literature so far. The challenging coagulation setting due to severe thrombocytopenia complicated the surgical management so far. Finally, mTOR-inhibitor sirolimu...
Source: Zeitschrift fur Geburtshilfe und Neonatologie - March 1, 2024 Category: Perinatology & Neonatology Authors: Melanie Le Katharina Wenke Jochen Herrmann Dominique Singer Mario Lange Source Type: research
A Uncommon Case: Kasabach-Merritt syndrome with VACTERL Association
We present a case of a mature male neonate with Kasabach-Merritt- Syndrome as well as VACTERL association. The VACTERL association describes a group of malformations. Our patient presented with anal atresia combined with tethered cord, and left renal agenesis. The VACTERL association as well as Kasabach-Merritt syndrome were found to be independent pathologies within this patient. A common occurrence or an association with each other has not been described in the literature so far. The challenging coagulation setting due to severe thrombocytopenia complicated the surgical management so far. Finally, mTOR-inhibitor sirolimu...
Source: Zeitschrift fur Geburtshilfe und Neonatologie - March 1, 2024 Category: Perinatology & Neonatology Authors: Melanie Le Katharina Wenke Jochen Herrmann Dominique Singer Mario Lange Source Type: research
A Uncommon Case: Kasabach-Merritt syndrome with VACTERL Association
We present a case of a mature male neonate with Kasabach-Merritt- Syndrome as well as VACTERL association. The VACTERL association describes a group of malformations. Our patient presented with anal atresia combined with tethered cord, and left renal agenesis. The VACTERL association as well as Kasabach-Merritt syndrome were found to be independent pathologies within this patient. A common occurrence or an association with each other has not been described in the literature so far. The challenging coagulation setting due to severe thrombocytopenia complicated the surgical management so far. Finally, mTOR-inhibitor sirolimu...
Source: Zeitschrift fur Geburtshilfe und Neonatologie - March 1, 2024 Category: Perinatology & Neonatology Authors: Melanie Le Katharina Wenke Jochen Herrmann Dominique Singer Mario Lange Source Type: research
A Uncommon Case: Kasabach-Merritt syndrome with VACTERL Association
We present a case of a mature male neonate with Kasabach-Merritt- Syndrome as well as VACTERL association. The VACTERL association describes a group of malformations. Our patient presented with anal atresia combined with tethered cord, and left renal agenesis. The VACTERL association as well as Kasabach-Merritt syndrome were found to be independent pathologies within this patient. A common occurrence or an association with each other has not been described in the literature so far. The challenging coagulation setting due to severe thrombocytopenia complicated the surgical management so far. Finally, mTOR-inhibitor sirolimu...
Source: Zeitschrift fur Geburtshilfe und Neonatologie - March 1, 2024 Category: Perinatology & Neonatology Authors: Melanie Le Katharina Wenke Jochen Herrmann Dominique Singer Mario Lange Source Type: research
A Uncommon Case: Kasabach-Merritt syndrome with VACTERL Association
We present a case of a mature male neonate with Kasabach-Merritt- Syndrome as well as VACTERL association. The VACTERL association describes a group of malformations. Our patient presented with anal atresia combined with tethered cord, and left renal agenesis. The VACTERL association as well as Kasabach-Merritt syndrome were found to be independent pathologies within this patient. A common occurrence or an association with each other has not been described in the literature so far. The challenging coagulation setting due to severe thrombocytopenia complicated the surgical management so far. Finally, mTOR-inhibitor sirolimu...
Source: Zeitschrift fur Geburtshilfe und Neonatologie - March 1, 2024 Category: Perinatology & Neonatology Authors: Melanie Le Katharina Wenke Jochen Herrmann Dominique Singer Mario Lange Source Type: research
A Uncommon Case: Kasabach-Merritt syndrome with VACTERL Association
We present a case of a mature male neonate with Kasabach-Merritt- Syndrome as well as VACTERL association. The VACTERL association describes a group of malformations. Our patient presented with anal atresia combined with tethered cord, and left renal agenesis. The VACTERL association as well as Kasabach-Merritt syndrome were found to be independent pathologies within this patient. A common occurrence or an association with each other has not been described in the literature so far. The challenging coagulation setting due to severe thrombocytopenia complicated the surgical management so far. Finally, mTOR-inhibitor sirolimu...
Source: Zeitschrift fur Geburtshilfe und Neonatologie - March 1, 2024 Category: Perinatology & Neonatology Authors: Melanie Le Katharina Wenke Jochen Herrmann Dominique Singer Mario Lange Source Type: research
A Uncommon Case: Kasabach-Merritt syndrome with VACTERL Association
We present a case of a mature male neonate with Kasabach-Merritt- Syndrome as well as VACTERL association. The VACTERL association describes a group of malformations. Our patient presented with anal atresia combined with tethered cord, and left renal agenesis. The VACTERL association as well as Kasabach-Merritt syndrome were found to be independent pathologies within this patient. A common occurrence or an association with each other has not been described in the literature so far. The challenging coagulation setting due to severe thrombocytopenia complicated the surgical management so far. Finally, mTOR-inhibitor sirolimu...
Source: Zeitschrift fur Geburtshilfe und Neonatologie - March 1, 2024 Category: Perinatology & Neonatology Authors: Melanie Le Katharina Wenke Jochen Herrmann Dominique Singer Mario Lange Source Type: research
A Uncommon Case: Kasabach-Merritt syndrome with VACTERL Association
We present a case of a mature male neonate with Kasabach-Merritt- Syndrome as well as VACTERL association. The VACTERL association describes a group of malformations. Our patient presented with anal atresia combined with tethered cord, and left renal agenesis. The VACTERL association as well as Kasabach-Merritt syndrome were found to be independent pathologies within this patient. A common occurrence or an association with each other has not been described in the literature so far. The challenging coagulation setting due to severe thrombocytopenia complicated the surgical management so far. Finally, mTOR-inhibitor sirolimu...
Source: Zeitschrift fur Geburtshilfe und Neonatologie - March 1, 2024 Category: Perinatology & Neonatology Authors: Melanie Le Katharina Wenke Jochen Herrmann Dominique Singer Mario Lange Source Type: research
The patient perspective on sirolimus for epithelioid hemangioendothelioma (EHE): results of a community survey highlighting the importance of equitable access to treatments
ConclusionThe survey responses highlight the activity of sirolimus for EHE and the importance of securing a label extension for the drug delivering equitable access to this treatment for patients. (Source: Frontiers in Oncology)
Source: Frontiers in Oncology - February 26, 2024 Category: Cancer & Oncology Source Type: research
Evaluation of TRIM63 RNA in situ hybridization (RNA-ISH) as a potential biomarker for alveolar soft-part sarcoma (ASPS)
Med Oncol. 2024 Feb 23;41(3):76. doi: 10.1007/s12032-024-02305-9.ABSTRACTAlveolar soft-part sarcoma (ASPS) is a rare soft tissue tumor with a broad morphologic differential diagnosis. While histology and immunohistochemistry can be suggestive, diagnosis often requires exclusion of other entities followed by confirmatory molecular analysis for its characteristic ASPSCR1-TFE3 fusion. Current stain-based biomarkers (such as immunohistochemistry for cathepsin K and TFE3) show relatively high sensitivity but may lack specificity, often showing staining in multiple other entities under diagnostic consideration. Given the discove...
Source: Ann Oncol - February 23, 2024 Category: Cancer & Oncology Authors: Alexander S Taylor Rahul Mannan Liron Pantanowitz Arul M Chinnaiyan Saravana M Dhanasekaran Steven Hrycaj Xuhong Cao May P Chan David Lucas Xiao-Ming Wang Rohit Mehra Source Type: research
Evaluation of TRIM63 RNA in situ hybridization (RNA-ISH) as a potential biomarker for alveolar soft-part sarcoma (ASPS)
Med Oncol. 2024 Feb 23;41(3):76. doi: 10.1007/s12032-024-02305-9.ABSTRACTAlveolar soft-part sarcoma (ASPS) is a rare soft tissue tumor with a broad morphologic differential diagnosis. While histology and immunohistochemistry can be suggestive, diagnosis often requires exclusion of other entities followed by confirmatory molecular analysis for its characteristic ASPSCR1-TFE3 fusion. Current stain-based biomarkers (such as immunohistochemistry for cathepsin K and TFE3) show relatively high sensitivity but may lack specificity, often showing staining in multiple other entities under diagnostic consideration. Given the discove...
Source: Ann Oncol - February 23, 2024 Category: Cancer & Oncology Authors: Alexander S Taylor Rahul Mannan Liron Pantanowitz Arul M Chinnaiyan Saravana M Dhanasekaran Steven Hrycaj Xuhong Cao May P Chan David Lucas Xiao-Ming Wang Rohit Mehra Source Type: research
Evaluation of TRIM63 RNA in situ hybridization (RNA-ISH) as a potential biomarker for alveolar soft-part sarcoma (ASPS)
AbstractAlveolar soft-part sarcoma (ASPS) is a rare soft tissue tumor with a broad morphologic differential diagnosis. While histology and immunohistochemistry can be suggestive, diagnosis often requires exclusion of other entities followed by confirmatory molecular analysis for its characteristicASPSCR1-TFE3 fusion. Current stain-based biomarkers (such as immunohistochemistry for cathepsin K and TFE3) show relatively high sensitivity but may lack specificity, often showing staining in multiple other entities under diagnostic consideration. Given the discovery of RNA in situ hybridization (RNA-ISH) forTRIM63 as a sensitive...
Source: Medical Oncology - February 23, 2024 Category: Cancer & Oncology Source Type: research
Adult-onset multifocal kaposiform hemangioendothelioma in the bone marrow, lung, liver, and brain: a case report
Kaposiform hemangioendothelioma (KHE), a rare form of vascular neoplasm, is typically seen in children. In this paper, we report a unique case of KHE replacing bone marrow tissue mimicking myeloproliferative neoplasm with additional involvement in the lung, liver, and brain in a 60-year-old Caucasian woman. The patient was initially seen in the hematology department for the chief complaint of epigastric pain and anemia. Abdominal magnetic resonance imaging (MRI) revealed mild splenomegaly with iron deposition secondary to extramedullary hematopoiesis. Additional workup was inconclusive. Subsequent bone marrow and lung biop...
Source: Frontiers in Oncology - February 22, 2024 Category: Cancer & Oncology Source Type: research
Intravascular Papillary Endothelial Hyperplasia of the Mandible in a 66 Year-Old Woman
AbstractIntravascular papillary endothelial hyperplasia (IPEH) is a rare benign vascular non-neoplastic lesion that is characterized by papillary proliferation of vascular endothelial cells. Masson first described this lesion in 1923, and since then, it has been named Masson ’s tumor, intravascular angiomatosis, Masson’s lesion, Masson’s pseudoangiosarcoma, Masson’s hemangioma, and vegetant intravascular hemangioendothelioma. The term IPEH is currently the most illustrative and the most frequently used in the literature. This lesion seems to occur in any blood v essel in the body, but it is more likely to be observ...
Source: Journal of Maxillofacial and Oral Surgery - January 28, 2024 Category: ENT & OMF Source Type: research
