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Infantile malignancies

Steve Taylor, Kimberly Eisenstein, Vanessa Gildenstern, Harper Price, Pooja Hingorani, Apurvi Patel, Nathan Page, Smita Bailey, David Carpentieri
Infantile choriocarcinoma (ICC) is a rare, highly malignant form of gestational trophoblastic neoplasia. Rapid diagnosis and initiation of treatment are paramount in reaching a successful outcome. Patients with these tumors typically present with a triad of anemia, hepatomegaly, and precocious puberty. Cutaneous manifestations of ICC are extraordinarily rare with few documented cases. Here, we describe a male neonate who presented to our Dermatology clinic with a rapidly growing, markedly vascular glabellar mass associated with abnormal laboratory values suggestive of Kasabach-Merritt phenomenon...
January 1, 2018: Pediatric and Developmental Pathology
Bella Shadur, Irina Zaidman, Adeeb NaserEddin, Elana Lokshin, Fatma Hussein, Hodaya Cohen Oron, Batia Avni, Sigal Grisariu, Polina Stepensky
BACKGROUND: Infantile malignant osteopetrosis (IMO) is an autosomal recessive condition characterized by defective osteoclast activity, with hematopoietic bone marrow transplant being the only available cure. Over the past several years, new conditioning regimes and donor options have emerged, thus extending the possibility of cure to a greater number of patients and improving the outcomes of bone marrow transplant. Here we detail the outcomes of bone marrow transplant in a cohort of 31 patients treated with a combination of fludarabine, treosulphan, thiotepa, and antithymocyte globulin...
February 22, 2018: Pediatric Blood & Cancer
Jennifer Lira, Duncan E Berry, Christopher L Weller, Alan D Proia, Ilya M Leyngold
A 5-year-old girl with Aicardi syndrome and microphthalmia with cyst of the OD presented with progressive enlargement of the cyst causing pain. Microophthalmia with inferior cyst (35 × 25 × 12 mm) was noted at birth, and Aicardi syndrome was diagnosed at 10 months by the presence of the classic triad of callosal agenesis, infantile spasms, and chorioretinal lacunae. She underwent enucleation with cyst resection, and subsequent reconstruction with a dermis fat graft. Histopathologic study revealed adenocarcinoma of the pigmented ciliary epithelium...
January 16, 2018: Ophthalmic Plastic and Reconstructive Surgery
Muhammad Ajmal, Asif Mir, Sughra Wahid, Chiea Chuen Khor, Jia Nee Foo, Saima Siddiqi, Mehran Kauser, Salman Akbar Malik, Muhammad Nasir
BACKGROUND: Osteopetrosis is a rare inherited bone disorder mainly described as an increased bone density caused by defective osteoclastic bone resorption. To date, genetic variants of eleven genes have been reported so far to be associated with different types of osteopetrosis. However, malignant infantile osteopetrosis, a lethal form of the disease, is mostly (50%) caused by mutation(s) in TCIRG1 gene. In this study, we investigated a consanguineous Pakistani family clinically and genetically to elucidate underlying molecular basis of the infantile osteopetrosis...
December 13, 2017: BMC Medical Genetics
Eric C Ehman, Michael S Torbenson, Michael L Wells, Brian T Welch, Scott M Thompson, Ishan Garg, Sudhakar K Venkatesh
A number of benign and malignant neoplasms may arise from the vascular elements within the liver parenchyma. Lesions discussed in this article include angiosarcoma, epithelioid hemangioendothelioma, solitary fibrous tumor (hemangiopericytoma), infantile, and cavernous hemangiomas. Despite a common theme of vascular origin, the pathologic and imaging appearance of these entities can be heterogeneous. Angiosarcomas are bizarrely enhancing, highly aggressive tumors, which often present with metastatic disease...
November 20, 2017: Abdominal Radiology
Vijay Ramaswamy, Michael D Taylor
In this issue of Cancer Cell, Pathania et al. report sporadic childhood histone K27M mutant malignant glioma mouse models that faithfully recapitulate the human tumor phenotypes. Beyond emphasizing the importance of correct timing in mouse modeling of cancer, these models will facilitate research to effectively treat this lethal childhood cancer.
November 13, 2017: Cancer Cell
Akbar Amirfiroozy, Amir A Hamidieh, Zahra Golchehre, Azim Rezamand, Mahin Yahyaei, Fatemeh Beiranvandi, Soheyla Amirfiroozy, Mohammad Keramatipour
BACKGROUND: Osteopetrosis is a group of genetically heterogonous diseases and the main feature of that is increased bone density due to osteoclast's abnormality. It has three clinical forms based on inheritance pattern, severity and age of onset: the dominant benign form (ADO), the intermediate form (IRO) and the recessive severe form (ARO). One of the recently discovered genes for ARO form is SNX10 that accounts for 4% of affected persons by this type. METHODS: In this paper, a 15 years old girl affected by osteopetrosis has been analyzed for detecting causal mutation in known osteopetrosis genes...
October 2017: Avicenna Journal of Medical Biotechnology
Diana P Rodriguez, Emily S Orscheln, Bernadette L Koch
A wide range of masses develop in the nose, nasal cavity, and nasopharynx in children. These lesions may arise from the nasal ala or other structures of the nose, including the mucosa covering any surface of the nasal cavity, the cartilaginous or osseous portion of the nasal septum, the nasal turbinates, and the nasal bones. Lesions may also arise from the nasopharynx or adjacent structures and involve the nose by way of direct extension. The causes of nasal masses in children include congenital and developmental disorders such as congenital nasolacrimal duct mucocele, dermoid cyst, cephalocele, and nasal neuroglial heterotopia; inflammatory and infectious processes such as mucocele, polyp, and pyogenic granuloma; benign neoplasms such as infantile hemangioma and juvenile nasopharyngeal angiofibroma; malignant lesions such as rhabdomyosarcoma and nasopharyngeal carcinoma; and masses related to prior trauma such as septal hematoma...
October 2017: Radiographics: a Review Publication of the Radiological Society of North America, Inc
Yuki Kawasaki, Ichiro Kuki, Eiji Ehara, Yosuke Murakami, Shin Okazaki, Hisashi Kawawaki, Munetsugu Hara, Yoriko Watanabe, Shintaro Kishimoto, Kenji Suda, Hirotomo Saitsu, Naomichi Matsumoto
KCNT1 mutations are gain-of-function mutations in potassium channels resulting in severe infantile epilepsy. Herein we describe 3 infants with malignant migrating partial seizures with KCNT1 mutations accompanied by massive systemic to pulmonary collateral arteries with life-threatening hemoptysis and heart failure.
December 2017: Journal of Pediatrics
Hashem Jarineshin, Fereydoon Fekrat, Mehdi Feiz Dowlat Abadi
Osteopetrosis is a rare genetic disorder of osteoclast dysfunction leading to anatomical and physiological disorders. We present the anesthesia management for the femur fracture of a 4-year-old girl with malignant infantile type of osteopetrosis. She had a ventriculoperitoneal shunt, impaired motion, visual disturbance, growth failure, facial deformity, heart murmur of moderate tricuspid regurgitation, and left ventricular heart failure, with splenomegaly and severe anemia.
July 2017: Anesthesia, Essays and Researches
Hua Zhu, Song Gu, Minzhi Yin, Min Shi, Chao Xin, Jianmin Zhu, Jing Wang, Siqi Huang, Chenjie Xie, Jing Ma, Ci Pan, Jingyan Tang, Min Xu, Xue-Feng Bai
BACKGROUND: Infantile fibrosarcoma (IFS) is a rare pediatric malignancy with relatively good prognosis, but the risk of progression or recurrence after therapy exists. To understand the immune microenvironment of IFS and determine if immunotherapy is a potential treatment, we analyzed T-cell responses in IFS tumors. PROCEDURE: IFS tumors were analyzed by immunohistochemistry and multicolor flow cytometry to characterize immune cell infiltration and function. Tumor infiltrating lymphocytes (TILs) were expanded in vitro and evaluated for recognition of autologous tumor cells...
September 17, 2017: Pediatric Blood & Cancer
Masayuki Tsuneki, Takao Kinjo, Taisuke Mori, Akihiko Yoshida, Kayo Kuyama, Aoi Ohira, Takuya Miyagi, Kenzo Takahashi, Akira Kawai, Hirokazu Chuman, Naoya Yamazaki, Mikio Masuzawa, Hirofumi Arakawa
Human angiosarcoma is a rare malignant vascular tumor associated with extremely poor clinical outcome and generally arising in skin of the head and neck region. However, little is known about the molecular pathogeneses and useful immunohistochemical markers of angiosarcoma. To investigate the mechanisms of angiosarcoma progression, we collected 85 cases of human angiosarcoma specimens with clinical records and analyzed ISO-HAS-B patient-derived angiosarcoma cells. As control subjects, 54 cases of hemangioma and 34 of pyogenic granuloma were collected...
November 2017: Cancer Science
Xiao-Ya Zhang, Jin-Wei He, Wen-Zhen Fu, Chun Wang, Zhen-Lin Zhang
Human autosomal recessive osteopetrosis (ARO), also known as infantile malignant osteopetrosis, is a rare genetic bone disorder that often causes death. Mutations in T-cell immune regulator 1 (TCIRG1) are a frequent cause of human ARO. Six additional genes (TNFSF11, TNFRSF11A, CLCN7, OSTM1, SNX10, PLEKHM1) were also found to be associated with human ARO. In order to expand the mutation spectrum and clinical diversity for a better understanding of the ARO phenotype and to further investigate the clinical characteristics of benign subjects with ARO, we here report five individuals with ARO from four unrelated Chinese families...
November 2017: Acta Pharmacologica Sinica
Sohaib Tariq, Hussain Shallwani, Muhammad Waqas, Muhammad Ehsan Bari
Congenital and infantile malignant melanomas are rare and typically carry poor prognosis. The purpose of this article was to review the data on congenital and infantile malignant melanomas of the scalp in order to understand its presentation, diagnosis, management, and outcomes of congenital melanoma of scalp. We searched PubMed, CINAHL and Cochrane databases. Ten cases of congenital and 3 cases of infantile malignant melanoma of scalp were identified. The diagnosis was confirmed by biopsy and histological analysis for confirmation...
September 2017: Annals of Medicine and Surgery
Ilana Moscatelli, Henrik Löfvall, Christian Schneider Thudium, Michael Rothe, Carmen Montano, Zsuzsanna Kertész, Mehtap Sirin, Ansgar Schulz, Axel Schambach, Kim Henriksen, Johan Richter
Infantile malignant osteopetrosis (IMO) is a rare, lethal, autosomal recessive disorder characterized by nonfunctional osteoclasts. More than 50% of the patients have mutations in the TCIRG1 gene, encoding for a subunit of the osteoclast proton pump. The aim of this study was to develop a clinically applicable lentiviral vector expressing TCIRG1 to correct osteoclast function in IMO. Two mammalian promoters were compared: elongation factor 1α short (EFS) promoter and chimeric myeloid promoter (ChimP). EFS promoter was chosen for continued experiments, as it performed better...
October 3, 2017: Human Gene Therapy
Saima Gillani, Zaheer Abbas
Two main forms of osteopetrosis are recognized, a severe autosomal recessive form (MIM 259700) with an incidence of approximately 1 in 250,000 births and a mild autosomal dominant form (MIM166600) with an incidence of 1 in 20,000 births. Intrinsic disturbances of osteoclastic function due to mutations in genes encoding osteoclast-specific subunits of the vacuolar proton pump (TCIRG1, CLCN7) are found in most patients with recessive form. Mutations of CLCN7 are observed in dominant form of osteopetrosis .The recessive form of ostreopetrosis, i...
April 2017: Journal of Ayub Medical College, Abbottabad: JAMC
Margarita Kaiser, Bernadette Liegl-Atzwanger, Eszter Nagy, Daniela Sperl, Georg Singer, Holger Till
Congenital infantile fibrosarcoma (CIF) is a rare malignant mesenchymal tumor and only 14 cases have been reported with gastrointestinal manifestation. We report about a female newborn delivered per emergency cesarean section at 34 weeks of gestation. Postnatally, she rapidly developed an acute abdomen and sonographic evidence of intestinal perforation requiring laparotomy on the first day of life. A perforated 2 × 3 cm sized spherical tumorous structure of the jejunum was identified. Due to unknown histopathology at this point and unclear resectional margins, she received a temporary ileostomy, which was closed two months later...
2017: Case Reports in Pediatrics
Diran Herebian, Bader Alhaddad, Annette Seibt, Thomas Schwarzmayr, Katharina Danhauser, Dirk Klee, Stefani Harmsen, Thomas Meitinger, Tim M Strom, Ansgar Schulz, Ertan Mayatepek, Tobias B Haack, Felix Distelmaier
Coexistence of different hereditary diseases is a known phenomenon in populations with a high consanguinity rate. The resulting clinical phenotypes are extremely challenging for physicians involved in the care of these patients. Here we describe a 6-year-old boy with co-occurrence of a homozygous splice defect in OSTM1, causing infantile malignant osteopetrosis, and a loss-of-function variant in MANEAL, which has not been associated with human disease so far. The child suffered from severe infantile-onset neurodegeneration that could not be stopped by bone marrow transplantation...
September 2017: European Journal of Human Genetics: EJHG
Min Wang, Tianping Chen, Ling Jin, Lijun Qu, Jian Wang, Yan Li, Jie Cheng, Zhe Xu, Chengjun Wang, Shan Gao
OBJECTIVE: To detect potential mutation of the TCIRG1 gene in a boy with infantile malignant osteopetrosis. METHODS: Target sequence capture and next-generation sequencing were applied for the proband and his parents to identify the causative mutation, and Sanger sequencing was used to verify the suspected mutation. RESULTS: The proband manifested at 4 months of age with symptoms including anemia, thrombocytopenia, hepatosplenomegaly, and cephalus quadratus...
June 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
V Dasarwar Nagesh, D Ramkrishnan Santosh, N Datla Sravya
Adrenocortical tumor is a rare malignancy (1-2/million) in children with a heterogenous presentation and generally poor prognosis. We report two cases of adrenocortical carcinoma who presented primarily with virilization along with cushingoid features and hypertension. Both children were managed with surgical resection of tumor, steroid replacement, and antihypertensives.
June 2017: Indian Journal of Surgical Oncology
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