Browse
Submit Data
Databases
API
Help

Dataset Information

5 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

5' ALK Amplification in Neuroblastoma: A Case Report.

ABSTRACT: Neuroblastoma is the most common cancer in infants younger than 12 months of age, occurring with an incidence of 1 in 100,000 children. The clinical outcome of neuroblastoma ranges from spontaneous regression to treatment-resistant progression and/or metastasis, and accounts for 8-10% of childhood cancer deaths. Segmental chromosomal aberrations, as well as MYCN and ALK amplification, are among factors contributing to an unfavorable genomic profile and high-risk disease classification. Here, we describe a 5-year-old male who presented with a large right renal neuroblastoma tumor having lung and liver metastases. Fluorescence in situ hybridization analysis indicated the presence of >20 copies of the 5' region of the ALK gene in 26% of cells examined. Subsequent copy number assessment did not confirm ALK amplification, but revealed a gain of exons 2-5 of ALK, consistent with increased copy number for the 5' region of the ALK gene. Subsequent array analysis showed the presence of other unfavorable prognostic genomic features, including segmental gain of the 17q region and amplification of the long arm of chromosome 12 harboring CDK4 and MDM2, both reported to be poor prognostic indicators in patients with atypical clinical features in neuroblastoma. Taken together, this report illustrates the importance of careful interpretation of aberrant FISH findings and subsequent use of orthogonal methods to clarify the presence of genomic alterations to successfully determine potential treatment targets.

SUBMITTER: Akhavanfard S

PROVIDER: S-EPMC8077488 | biostudies-literature |

REPOSITORIES: biostudies-literature

ACCESS DATA

Json Xml

Similar Datasets

Aspergillus case report

Project description:Aspergillary rhinopharyngitis in an equine patient

| PRJEB46193 | ENA

The absence of a novel intron 19-retaining ALK transcript (ALK-I19) and MYCN amplification correlates with an excellent clinical outcome in neuroblastoma patients.

Project description:ALK missense mutations are detected in 8% of neuroblastoma (NB) tumors at diagnosis and confer gain-of-function oncogenic effects. The mechanisms by which the expression of wild-type or mutant ALK, which is detectable in the majority of cases, is regulated are not well understood. We have identified a novel ALK transcript characterized by the retention of intron 19 (ALK-I19). ALK-I19 was detected in 4/4 NB cell lines, but not other non-NB cells with ALK aberrations. The functional significance of ALK-I19 was determined by specific siRNA knockdown of this transcript, which resulted in substantially decreased expression of the fully-spliced ALK transcripts (FS-ALK) and a significant reduction in cell growth. We also demonstrate that ALK-I19 is a precursor of FS-ALK. ALK-I19 was detected in 14/37 (38%) tumors from patients with newly diagnosed NB. ALK-I19 expression correlated with undifferentiated histology and strong ALK protein expression detectable by immunohistochemistry. Importantly, patients with tumors that did not express ALK-I19 and lacked MYCN amplification had an excellent clinical outcome, with 19/19 patients survived at 5-years. In conclusion, ALK-I19 is a novel ALK transcript that likely represents a marker of undifferentiated NB cells. The absence of ALK-I19 and MYCN amplification is a useful prognostic marker for NB patients.

| S-EPMC5828214 | biostudies-other

Emerging importance of ALK in neuroblastoma.

Project description:Since the original descriptions of gain-of function mutations in anaplastic lymphoma kinase (ALK), interest in the role of this receptor tyrosine kinase in neuroblastoma development and as a potential therapeutic target has escalated. As a group, the activating point mutations in full-length ALK, found in approximately 8% of all neuroblastoma tumors, are distributed evenly across different clinical stages. However, the most frequent somatic mutation, F1174L, is associated with amplification of the MYCN oncogene. This combination of features appears to confer a worse prognosis than MYCN amplification alone, suggesting a cooperative effect on neuroblastoma formation by these two proteins. Indeed, F1174L has shown more potent transforming activity in vivo than the second most common activating mutation, R1275Q, and is responsible for innate and acquired resistance to crizotinib, a clinically relevant ALK inhibitor that will soon be commercially available. These advances cast ALK as a bona fide oncoprotein in neuroblastoma and emphasize the need to understand ALK-mediated signaling in this tumor. This review addresses many of the current issues surrounding the role of ALK in normal development and neuroblastoma pathogenesis, and discusses the prospects for clinically effective targeted treatments based on ALK inhibition.

| S-EPMC3242371 | biostudies-literature

Adult neuroblastoma in the retroperitoneum: A case report.

Project description:RATIONALE:Neuroblastoma is the most common extracranial malignant solid tumor that occurs during childhood. It arises from primitive cells and is found in the adrenal medulla and sympathetic ganglia of the sympathetic nervous system. Huge neuroblastoma in the retroperitoneum, especially adult involvement is extremely rare. PATIENT CONCERNS:A 20-year-old female patient with complaints of left abdominal discomfort for 1 week was reported. DIAGNOSIS:Multi-detector computed tomography (MD-CT) of the abdomen revealed a huge enhanced mass in the retroperitoneum. Histopathological findings showed neuroblastoma and immunohistochemical results were as follows: actin(-), CD34(-), CD99(-), CK(-), CgA(+), desmin(-), EMA(-), Ki-67(+, approximately 1%), NSE(+), S-100(+), Syn(+), and vimentin(-). INTERVENTIONS:We performed a total surgical resection. The CYVADIC (cyclophosphamide, vincristine, adriamycin, and dimethyl triazeno imidazole carboxamide) and James (cyclophosphamide and vincristine) regimens had been administered to this patient. OUTCOMES:Postoperatively, the patient's symptoms were partially relieved and the patient experienced recurrence after 3 months. The patient did not respond to treatment and died 6 months after the operation. LESSONS:Besides surgical resection, the treatment also included chemotherapy and radiotherapy. However, the optimal treatment remains controversial. Therefore, we should exert all our energies on the exploration of etiology and targeted drugs for this disease.

| S-EPMC6320202 | biostudies-other

Multiple chromoanasynthesis in a rare case of sporadic renal leiomyosarcoma: case report

Project description:Renal leiomyosarcomas (LMS) are extremely rare neoplasms with aggressive behaviour and poor survival prognosis. The most frequent somatic events in leiomyosarcomas are mutations in TP53, RB1, ATRX and PTEN genes, chromosomal instability and chromoanagenesis. By using chromosomal microarray analysis we identified monosomy of chromosomes 3 and 11, gain of Xp (ATRX) arm and three chromoanasynthesis regions (6q21-q27, 7p22.3-p12.1 and 12q13.11-q21.2), with MDM2 and CDK4 oncogenes copy number gains, whereas no CNVs or tumor specific SNVs in TP53, RB1 and PTEN genes were observed.

2020-06-04 | GSE151766 | GEO

Adult renal neuroblastoma: A case report and literature review.

Project description:Adult renal neuroblastoma (NB) is extremely rare, and there have been only a few cases previously described in the literature. We report a case of adult renal NB and summarize the clinical and imaging features of the reported cases.A 41-year-old female was admitted to our hospital with a chief complaint of gross hematuria that had persisted for a month. Nonenhanced computed tomography (CT) revealed a hypodense right renal mass without calcification. Enhanced CT showed an infiltrative, heterogeneously enhancing right renal mass with retrocaval lymphadenopathy and right renal vein thrombus. Magnetic resonance imaging (MRI) revealed that the right renal mass was isointense relative to the renal parenchyma on nonenhanced T1-weighted images; it showed mixed hypointensity and hyperintensity on T2-weighted images, and heterogeneous enhancement with a hyperintense rim on fat-saturated, enhanced T1W images. The initial impression was renal cell carcinoma (RCC).Adult renal neuroblastoma.Right nephroureterectomy with lymph node dissection was performed. The pathology and immunohistochemistry confirmed the diagnosis of renal NB with retrocaval lymphadenopathy and retroperitoneal metastasis.After surgery, the patient received 6 courses of chemotherapy, and no recurrence was observed during a 24-month follow-up period.The clinical picture of adult renal NB is that of a 44-year-old woman, presenting with an abdominal or renal mass about 13cm in size, accompanied by hypertension, hematuria, or pain. In contrast to CT features described in previous literature, no tumor calcification is mentioned in these adult renal NB cases. It is difficult to differentiate renal NB from RCC based on CT or MRI. However, biopsy, urinary catecholamine levels, and metaiodobenzylguanidine (MIBG) scan may aid in presurgical diagnosis.

| S-EPMC5902279 | biostudies-literature

Neonatal neuroblastoma presented with respiratory distress, a case report.

Project description:BackgroundThe most common neonatal tumor is neuroblastoma and adrenal gland is the most common site of involvement. 11-26% of this tumor is seen in the thorax of neonates. Due to a similar appearance of the mediastinal tumor with pneumonia, a high index of suspicion is necessary for early diagnosis of this disorder.Case reportA 17-day -old female and term neonate delivered by caesarian section was reported in the study. The mother had a normal pregnancy without any reported complications. The newborn admitted to a neonatal intensive care unit (NICU) in her hometown, because of respiratory distress, stridor, and tachypnea which was started from 7 days of life and due to lack of recovery and persistent respiratory symptoms, the patient referred to our hospital. In chest X-ray, opacity in the right upper lobe of the lung was seen. In barium study, a mass like lesion in the size of 35.34?mm adjacent to upper intra-thoracic esophagus with mild mass effect was observed and in CTS a posterior mediastinal mass with severe compression on the trachea and extension to the spinal canal was reported. Due to severe obstruction on the airway, the baby underwent emergency surgery and a mediastinal mass with adhesion and involvement of the ribs and spinal cord was resected. The final diagnosis of poorly differentiated neuroblastoma was confirmed by biopsy.ConclusionIn every neonate with persistent respiratory distress, stridor and abnormal chest X-ray, diagnosis of neonatal neuroblastoma should be considered.

| S-EPMC6557750 | biostudies-literature

ALK Rearrangement-Positive Pancreatic Cancer with Brain Metastasis Has Remarkable Response to ALK Inhibitors: A Case Report.

Project description:Patients with metastatic pancreatic cancer typically have poor prognosis due to the limited effectiveness of existing treatment options. ALK rearrangement-positive is rare in pancreatic cancer, but may occur in those with KRAS-wild type. We present a 34-year-old young man with ALK rearrangement-positive and KRAS-wild pancreatic cancer who had a remarkable response to crizotinib after resistance to prior chemotherapy and re-response to alectinib after brain metastases developed. This clinical observation suggests that comprehensive molecular profiling to guide targeted therapies is not only feasible, but also significantly improves survival outcomes for a subgroup of patients with pancreatic cancer.

| S-EPMC8456297 | biostudies-literature

Capnocytophaga canimorsus case report

Project description:Septic shock and meningitis caused by Capnocytophaga canimorsus (serovar B) in an immunocompetent patient: case report

| PRJEB83582 | ENA

Lawsonella clevelandensis Case Report

Project description:Labium majus abscess in the presence of the novel anaerobic Lawsonella clevelandensis: a first report

| PRJEB40325 | ENA