Abstract
Background
Neuroblastoma is a rare, aggressive childhood malignancy originating from neural crest progenitor cells of the sympathetic nervous system. While primarily a pediatric tumor, adult-onset neuroblastoma poses significant diagnostic and therapeutic challenges owing to its rarity, absence of standardized treatment protocols, and poor response to therapy. This case highlights a unique presentation of refractory retroperitoneal neuroblastoma in an adult female patient, managed with limited resources in a resource-constrained setting.
Case presentation
A 41-year-old female from a Dalit community in eastern Nepal presented with a 2-month history of abdominal pain, early satiety, and bloating. Imaging revealed a large retroperitoneal mass encasing critical vascular structures. Histopathology and biopsy confirmed neuroblastoma, but cytogenetic analysis could not be performed owing to resource limitations. The tumor was classified as stage L2 per the International Neuroblastoma Risk Group Staging System. Surgical resection was deemed infeasible owing to tumor encasement of major vessels. The patient was treated with eight cycles of alternating vincristine, cisplatin, etoposide, and cyclophosphamide; and vincristine, carboplatin, etoposide, and cyclophosphamide chemotherapy regimens, resulting in minimal tumor shrinkage. Subsequent palliative chemotherapy with temozolomide and irinotecan also failed to induce significant tumor regression. Advanced therapeutic options such as chimeric antigen receptor T cell therapy were unavailable owing to resource constraints, leaving the patient with limited treatment options.
Conclusion
This case underscores the challenges in diagnosing and managing adult-onset neuroblastoma, particularly in resource-limited settings where advanced diagnostic and therapeutic options are unavailable. The absence of standardized treatment protocols for adult neuroblastoma highlights the need for focused research on context-adapted treatment algorithms, affordable molecular diagnostics, and cost-effective therapeutic approaches, particularly in resource-limited settings. This report emphasizes the importance of collaborative efforts to develop globally accessible treatment strategies for rare and aggressive malignancies such as refractory neuroblastoma, particularly in underserved regions.
Keywords: Neuroblastoma, Adult onset, Refractory, Retroperitoneal, Rare tumor
Background
Neuroblastoma (NB) is an embryonal neuroendocrine tumor originating from neural crest progenitor cells that primarily arises in the adrenal glands but can develop anywhere along the sympathetic nervous system, including the superior cervical, paraspinal, and celiac ganglia. It is the most frequently occurring extracranial childhood tumor, the most common malignancy of infancy with a median diagnosis age of 17 months, and accounts for 97% of sympathetic nervous system tumors in children [1].
Owing to the rarity of neuroblastoma in adults, there is a lack of well-standardized guidelines, as a result of which the treatment protocols for adults are often adapted from pediatric protocols [2]. Being primarily a pediatric malignancy, NB is extremely rare in adults, with only a few cases reported in literature so far [3]. This case highlights a rare case of refractory retroperitoneal NB in an adult female patient, diagnosed with limited resources and managed using pediatric chemotherapy protocols that ultimately became refractory to the treatment.
This case report has been drafted in accordance with CARE Case Report Guidelines 2013 [4].
Case presentation
A 41-year-old female patient from a Dalit community in eastern Nepal presented to the internal medicine ward via the emergency ward of a tertiary care center in February 2024 with the chief complaint of pain in the lower abdomen for 2 months, which was gradual in onset; dull, aching type; radiating toward her lower back; sometimes accompanied by early satiety and bloating; and not relieved by analgesic medications. She had a previous history of surgery for an intestinal ulcer 16 years ago without any postoperative complications. No significant family history and no history of smoking, tobacco use, and alcohol consumption was reported.
On examination, the patient’s vitals were within normal ranges with a pulse rate of 72 beats per minute, blood pressure of 120/70 mmHg, respiratory rate of 18 breaths per minute, and temperature of 96 °F. General examination revealed no pallor, icterus, lymphadenopathy, clubbing, cyanosis, edema, and dehydration. On systemic examination, no significant findings were reported. Respiratory examination revealed bilateral equal air entry with normal vesicular breath sounds and no added sounds; cardiovascular examination showed normal S1 and S2 heart sounds with no murmurs; abdominal examination revealed a nontender abdomen with no organomegaly, though she had a history of lower abdominal pain; and central nervous system examination was grossly intact. Although the patient reported persistent lower abdominal pain, which may have been due to deep-seated retroperitoneal pathology rather than superficial peritoneal irritation, abdominal examination revealed a nontender abdomen. Laboratory findings at the time of presentation are shown as tabulated (Table 1).
Table 1.
Laboratory findings at the time of presentation
| Laboratory findings | Results | Reference values |
|---|---|---|
| Glucose, random | 87.67 mg/dL | 50–130 mg/dL |
| Urea | 19.99 mg/dL | 15–40 mg/dL |
| Creatinine | 0.75 mg/dL | 0.6–1.0 mg/dL |
| Sodium | 140.17 mmol/L | 136–145 mmol/L |
| Potassium | 3.93 mmol/L | 3.5–5.1 mmol/L |
| Uric acid | 4.3 mg/dL | 2.6–6.0 mg/dL |
| Calcium | 9.17 mg/dL | 8.5–10.1 mg/dL |
| Bilirubin level | 0.32 mg/dL | 0.2–1.0 mg/dL |
| SGOT/AST | 14.26 U/L | 15–37 U/L |
| SGPT/ALT | 9.17 U/L | 14–63 U/L |
| Albumin | 4.08 gm/dL | 3.4–5.0 gm/dL |
| Hemoglobin (Hb) | 12.5 gm/dL | 12–15 gm/dL |
| Platelet count | 197,000/mm3 | 150,000–400,000/mm3 |
| Total leukocyte count | 5690/mm3 | 4000–10,000/mm3 |
| Neutrophils | 58% | 40–80% |
| Lymphocytes | 35% | 20–40% |
| Eosinophils | 2% | 1–6% |
| Monocytes | 5% | 2–10% |
| Basophils | 0% | < 1–2% |
She had previously visited a primary healthcare center (PHC) for the same symptoms in late February 2024, where ultrasonography (USG) of the abdomen was performed. USG revealed the presence of a well-defined heterogeneous mass lesion predominantly solid measuring 5 cm × 4 cm in the hepatorenal space, on the basis of which a differential diagnosis of renal or adrenal mass was made. Subsequently, she was referred to our hospital for further investigations. At our hospital, a computed tomography (CT) scan of the neck, chest, and abdomen was performed in mid-March 2024. No significant findings were reported in the neck and chest regions. However, the abdomen revealed a homogeneously enhancing, lobulated soft tissue density mass measuring 15.5 cm × 11.8 cm × 8.9 cm (craniocaudal × transverse × anteroposterior), as shown in Fig. 1, which illustrates contrast-enhanced CT images of the abdomen demonstrating a large lobulated retroperitoneal soft-tissue mass with encasement of major abdominal vessels, consistent with the imaging findings described. This mass extended from the level of the D11 vertebra above the origin of the celiac vessels to the L4 vertebra, just distal to the level of the common iliac bifurcation. It encased the celiac artery, superior mesenteric artery, bilateral renal arteries, renal veins, the infra-diaphragmatic portion of the inferior vena cava, and the abdominal aorta on both the anterior and posterior aspects, with a positive floating aorta sign. Anteriorly, the mass abutted the pancreas, distal common bile duct, gallbladder, and the superior mesenteric and portal veins, with the fat plane preserved. On the right, it abutted the caudate lobe and segment V of the right liver lobe. Posteriorly, it was in contact with the bilateral psoas muscles, bilateral upper ureters, the upper poles of both kidneys and the bodies of the L1–L4 vertebrae. On the left, it abutted small bowel loops, while superiorly it was adjacent to the gastric fundus and the left hemidiaphragm. Inferiorly, it was in contact with small bowel loops. The bilateral adrenal glands were not delineated. On the basis of CT abdomen findings, a provisional diagnosis of retroperitoneal nodal mass (likely lymphoma) was made. Biopsy of the mass was performed in late March that demonstrated the presence of tissue composed of nests of small round cells arranged uniformly with moderate-to-scant cytoplasm, small hyperchromatic nuclei, and inconspicuous nucleoli. Binucleated cells and a few atypical mitoses were also noted. This microscopic biopsy finding suggested the diagnosis of a small round cell tumor, which was confirmed to be NB by immunohistochemistry (IHC) performed in early April, as the markers synaptophysin, chromogranin, and anaplastic lymphoma kinase (ALK) were found to be immunoreactive. The detailed IHC findings have been tabulated below (Table 2). Assessment of proliferative and prognostic markers, including mitotic index and Ki-67 labeling index, could not be performed owing to limited tissue availability and resource constraints; therefore, prognostic stratification was based primarily on histomorphology, immunohistochemistry, and imaging findings. With all these investigations, the diagnosis of retroperitoneal NB was made. According to the International Neuroblastoma Risk Group Staging System (INRGSS), the tumor was classified as stage L2 on the basis of imaging findings and the presence of multiple image-defined risk factors (IDRFs). These IDRFs included encasement of major vessels such as the celiac artery, superior mesenteric artery, bilateral renal arteries, inferior vena cava, and abdominal aorta. The tumor was also found to abut and involve critical structures, including the pancreas, ureters, gastric fundus, and vertebral column. Despite the significant local extent of the tumor, there was no evidence of distant metastasis (lungs, liver, bone marrow, or bone) on imaging or biopsy, supporting the localized classification of stage L2.
Fig. 1.

Contrast-enhanced abdominal computed tomography images demonstrating a large retroperitoneal mass. A Axial section showing a homogeneously enhancing, lobulated soft-tissue density mass measuring 15.5 cm × 11.8 cm × 8.9 cm (craniocaudal × transverse × anteroposterior) with encasement of major abdominal vessels. B Coronal section showing a giant retroperitoneal mass crossing the midline and displacing adjacent abdominal organs and vascular structures
Table 2.
Immunohistochemistry findings
| IHC markers | Immunoreactivity | Staining intensity |
|---|---|---|
| Synaptophysin | Immunoreactive | Score 4 |
| Chromogranin | Immunoreactive | Score 3 |
| ALK | Immunoreactive | Score 3 |
| CD45 | Non-immunoreactive | Score 0 |
| GFAP | Non-immunoreactive | Score 0 |
| CD99 | Non-immunoreactive | Score 0 |
| Interpretation of scores | Scored on a semi-quantitative scale from 0 to 4, where 0 indicated 0% immunoreactive cells, 1 indicated 1–25%, 2 indicated 26–50%, 3 indicated 51–75%, and 4 indicated 76–100% of cells showing positive staining | |
Owing to the extensive size and tumor encasement of major blood vessels and critical structures, surgical resection was highly risky and infeasible. Although the patient had localized (stage L2) disease, the extensive size of the retroperitoneal mass, encasement of multiple major vessels, and involvement of critical structures rendered surgical resection infeasible and placed her at high risk for treatment failure with single-modality therapy; therefore, a multiagent chemotherapy regimen typically used for metastatic neuroblastoma (vincristine, cisplatin, etoposide, and cyclophosphamide/vincristine, carboplatin, etoposide, and cyclophosphamide [OPEC/OJEC]) was chosen to maximize tumor cytoreduction and improve the likelihood of response. The patient was scheduled for alternating cycles of OPEC and OJEC chemotherapy from late April 2024 to September 2024, with each cycle lasting 3–4 days and a 3-week interval between them. The patient weighed 63 kg, had a height of 148 cm, and had an Eastern Cooperative Oncology Group (ECOG) performance status of 2, indicating that she was ambulatory and capable of self-care but limited in strenuous activity, which was considered acceptable for initiation of combination chemotherapy. Specific drug dosages and dose modifications were calculated according to body surface area, hematologic recovery, and institutional pediatric neuroblastoma protocols; however, exact dosing details could not be uniformly documented and are therefore not reported. The OPEC regimen included vincristine, cisplatin, etoposide, and cyclophosphamide, while the OJEC regimen consisted of vincristine, carboplatin, etoposide, and cyclophosphamide. The chemotherapy was administered for a total of eight cycles. A follow-up CT scan of the abdomen after eight cycles was performed in October 2024 that revealed only a partial reduction in the tumor size, with a residual mass measuring 12 cm × 7.5 cm × 14.9 cm extending from the D11–L4 vertebral levels, with vascular encasement. Compared with the pretreatment CT scan, the tumor showed only minimal shrinkage, and it remained unsuitable for surgical resection. Following limited response to chemotherapy, diagnosis of refractory retroperitoneal neuroblastoma was confirmed. Subsequently, the patient was started on palliative chemotherapy with temozolomide and irinotecan from October 2024 to December 2024. After completing three cycles of palliative treatment over approximately 3 months, the tumor showed minimal to no regression, making surgical resection unfeasible owing to the poor response to therapy. The patient and her family were counseled regarding the poor prognosis and limited treatment options available. While chimeric antigen receptor T cell (CAR-T) therapy was considered the next line of management, it was not pursued because of its unavailability in our resource-limited setting. Despite treatment, the patient died in January owing to progressive disease with clinical deterioration, without evidence of an acute treatment-related complication.
Discussion and review of literature
Neuroblastoma is an embryonal tumor of the autonomic nervous system, arising from incompletely committed precursor cells of neural crest origin, typically presenting as mass lesions in the sympathetic nervous system, such as the adrenal medulla or paraspinal ganglia, and may even present in the neck, chest, abdomen, or pelvis [5]. NB is the fourth most common extracranial malignant tumors in childhood, with approximately 90% of cases diagnosed before the age of 5 years. They are exceedingly rare in adulthood, particularly beyond the third decade of life, with an incidence of just 0.12 cases per million with < 100 cases reported in the medical literature so far [3, 6]. In a study carried out for cases of NB reported between 1968 and 1995, NB presented a significantly poor prognosis, with survival rates of 75% at 2 years, 44% at 5 years, and only 10% at 20 years post-diagnosis. Most patients were diagnosed with advanced disease, particularly stage IV, and treatment approaches, including surgery, chemotherapy, and radiation, did not lead to improved outcomes [7].
Diagnosis becomes challenging when a disease presents uniquely in a very unusual age group, such as the one reported in our case. CT is the primary diagnostic tool for evaluating abdominal masses, including retroperitoneal tumors. On CT images, the tumor presents as divided lobes or round soft tissue masses with a characteristic large number of plaques with sand-like calcification [8]. As CT confirms the presence of a solid tumor in the retroperitoneum, a histopathological examination of tumor mass is performed. Histopathology reveals small, round blue cells, with clustering of cells in connective tissue with typical Homer–Wright pseudo rosette, though these pseudo rosettes are seen in only 10–15% of total cases. Along with NB, these pseudo rosettes can also be well appreciated in Wilm’s tumor and Ewing sarcoma, leading to their common group categorization as small blue-cell tumors [1].
NB can be diagnosed through immunohistochemistry by analyzing specific markers characteristic of the tumor. Key markers include chromogranin and synaptophysin, which show focal and punctate staining in NB, contrasting with the diffuse staining in pheochromocytoma. Additionally, neurofilament and microtubule-associated protein-2 (MAP2) highlight the fibrillary background typical of NB. The presence of peanut agglutinin (PNA) binding can indicate ganglion cell differentiation, while glial fibrillary acidic protein (GFAP) may also be present in certain cases. By examining these immunohistochemical patterns, pathologists can effectively differentiate NB from other tumors [9]. Cytogenetic tests confirm the diagnosis of NB by identifying specific genetic abnormalities associated with the disease, such as N-MYC gene amplification and chromosomal aberrations such as gains of chromosome 17q or deletions on chromosome 1p. Techniques such as fluorescence in situ hybridization (FISH) allow for the detection of these markers in tumor cells, providing crucial prognostic information regarding tumor aggressiveness. Additionally, FISH can be performed on small samples obtained through fine-needle aspiration cytology (FNAC), making it a rapid and less invasive diagnostic option [10]. In our case, owing to resource limitations, cytogenetic testing could not be performed. As a result, the final diagnosis of retroperitoneal NB was based entirely on immunohistochemistry.
The International Neuroblastoma Risk Group Staging System (INRGSS) is a preoperative staging framework developed to enhance the classification and treatment of NB, which we have used in our case (Table 3). Unlike the previous International Neuroblastoma Staging System (INSS), which was a postoperative staging framework and relied on surgical findings, the INRGSS is based on imaging and the presence of image-defined risk factors (IDRFs) at the time of diagnosis. The INRGSS categorizes tumors into locoregional stages (L1 or L2) and metastatic stages (M or MS), thereby providing a clearer understanding of disease progression and potential outcomes [11].
Table 3.
International Neuroblastoma Risk Group Staging System (INRGSS)
| Stage | Description |
|---|---|
| L1 | Localized tumor not involving vital structures as defined by the list of image-defined risk factors and confined to one body compartment |
| L2 | Locoregional tumor with presence of one or more image-defined risk factors |
| M | Distant metastatic disease (except stage MS) |
| MS | Metastatic disease in children younger than 18 months with metastases confined to skin, liver, and/or bone marrow |
Treatment protocols for adult NB are often adapted from pediatric protocols owing to the rarity of the disease in adults and the absence of standardized guidelines. Adult NB differs from pediatric cases, often being more indolent but less responsive to traditional therapies. Genetic differences include higher ALK and ATRX mutation rates and lower MYCN amplification. Despite these distinctions, treatment options such as chemotherapy, surgery, radiation, and targeted therapies (for example, ALK inhibitors) have shown promise, particularly in resistant cases, though research and clinical trials for adults remain limited [2]. In the tumor where surgical resection is not possible or the metastasis has occurred, the OPEC/OJEC chemotherapy regimen is utilized, which is a multiagent treatment specifically designed for children over 1 year of age diagnosed with stage 4 NB. It consists of alternating courses of vincristine, cisplatin, etoposide, cyclophosphamide, and carboplatin, administered every 21 days on the basis of hematological recovery. This regimen aims to achieve rapid tumor cytoreduction and improve long-term survival rates [12].
The palliative therapy combining irinotecan and temozolomide is primarily used for patients with relapsed or refractory NB, particularly in cases where the disease has persisted or recurred after extensive prior treatments as in our case. It is considered in challenging clinical scenarios, such as when patients have poor hematologic status or impaired function of major organs owing to previous therapies. The regimen is designed to provide an effective treatment option while minimizing toxicity and preserving quality of life, making it suitable for patients who may not tolerate more aggressive treatments [13]. In case of poor patient response to palliative therapy, salvage chemotherapy regimens incorporating arsenic trioxide (ATO) have shown promise in stabilizing disease in patients with relapsed or refractory high-risk neuroblastoma (HR-NB), offering favorable efficacy and a reduced toxicity profile compared with more aggressive treatments [14]. Additionally, CAR T-cell therapy, a ground-breaking immunotherapy, is increasingly explored in treating NB, especially for relapsed or refractory cases. This therapy involves genetically engineering a patient’s T cells to express chimeric antigen receptors (CARs) that target specific proteins in cancer cells. In NB, CARs are often designed to target the GD2 protein, abundant in NB cells [15].
We present a comprehensive literature review of cases of relapsed or refractory NB, summarized in the table below (Table 4). Among all the cases, Federico S. et al. [17], Garrovillo K. et al. [19], and Mukherji A. et al. [23] presented cases of refractory NB, while others presented cases with relapsed NB. Federico S. et al. [17] presented the first successful treatment of a pediatric patient with refractory NB and a germline pathogenic mutation in BARD1 using a PARP inhibitor in combination with chemotherapy and radiation therapy. Garrovillo K. et al. [19] reported that the use of dinutuximab in high-risk NB showed very promising results in the case of the pediatric population, but evidence of its efficacy in adult-onset NB is still lacking. The use of apatinib plus retinoic acid has an effective role as maintenance therapy in the course of NB treatment, with good tolerability and few side effects [22]. Among a handful of refractory and relapsed NB cases in the literature, only Garrovillo K. et al. [19] presented an adult-onset refractory NB similar to the one we present in our case.
Table 4.
Literature review of relapsed and refractory neuroblastoma cases
| SN | Author | Year of publication | Age | Sex | Type of case | Case details | Treatment received | Outcomes |
|---|---|---|---|---|---|---|---|---|
| 1 | Barcikowski J. et al. [16] | 2016 | 12 years | F | Relapsed | Transverse myelitis as a side effect of dinutuximab therapy | GD2-based immunotherapy (irinotecan, temodar, and dinutuximab) | Responded to treatment |
| 2 | Federico S. et al. [17] | 2023 | 22 months | F | Refractory | BARD1-mutated refractory neuroblastoma | PARP inhibitor in combination with chemotherapy and radiation therapy | Responded to treatment |
| 3 | Donfrancesco A. et al. [18] | 2007 | 4 years | F | Relapsed | Prolonged progression-free survival of 27 months | Treatment regimen combining gefitinib, topotecan, and cyclophosphamide | Responded to treatment |
| 4 | Garrovillo K. et al. [19] | 2020 | 41 years | F | Refractory | Neuroblastoma refractory to high-dose cyclophosphamide, topotecan, cisplatin, and etoposide | GD2-based immunotherapy (irinotecan, temozolomide, and dinutuximab) | Responded to treatment |
| 5 | Hanada R. et al. [20] | 1990 | 7 years | F | Relapsed | Local recurrence with bone metastasis post chemotherapy | Allogeneic bone marrow transplantation from a human leukocyte antigen (HLA)-identical brother | Responded to treatment |
| 6 | Hirano N. et al. [21] | 2019 | 10 years | F | Relapsed | Diffuse-type gastric carcinoma after 21 years from completion of treatment to high-risk neuroblastoma | Chemotherapy with tegafur–gimeracil–oteracil potassium (S-1), cis-diamminedichloroplatinum(II) (CDDP), and paclitaxel | Poor response resulting in death |
| 7 | Jin M. et al. [22] | 2020 | 34 months | M | Relapsed | Recurrence of the celiac tumor post complete response to chemotherapy | Second-line chemotherapy using the topotecan and cyclophosphamide (TC) regimen, cyclophosphamide, vincristine, and doxorubicin (CADO) regimen, and carboplatin and etoposide (CBVP) regimen, along with maintenance therapy using apatinib and retinoic acid | Responded to treatment |
| 41 months | M | Relapsed | Recurrence of the tumor in right pelvic cavity post complete response to chemotherapy | Responded to treatment | ||||
| 8 | Mukherji A. et al. [23] | 2014 | 8 years | M | Refractory | Recurrence of olfactory neuroblastoma refractory to chemotherapy | Chemotherapy with no response followed by multiple surgeries and ultimately conformal three-dimensional conformal radiotherapy (3D-CRT) | Responded to treatment |
Refractory disease was defined as lack of response or progression during initial therapy, while relapsed disease referred to recurrence or progression after an initial response or remission
This case report has several important limitations. Owing to resource constraints, cytogenetic and molecular analyses, including MYCN amplification status and other prognostically significant genetic markers, could not be performed, limiting comprehensive risk stratification and prognostic interpretation. Exact chemotherapy dosing details and cumulative dose intensities could not be uniformly documented across treatment cycles, which restricts the report’s utility for precise clinical replication and therapeutic guidance. Furthermore, the lack of access to advanced therapeutic modalities such as targeted therapies, immunotherapy, and CAR T-cell therapy substantially limited treatment options and may have influenced clinical outcomes. These constraints highlight a significant gap in both available therapeutic alternatives and existing medical literature for adult-onset refractory neuroblastoma, particularly in low- and middle-income countries. Notably, this is the first reported case of refractory neuroblastoma from Nepal managed in a resource-limited setting.
Conclusion
This case highlights the significant challenges in diagnosing and managing adult-onset NB, a rare and aggressive malignancy. The rarity of this condition complicates the development of universally accepted treatment protocols, often leaving clinicians to adapt pediatric guidelines for adult patients. This challenge is further magnified in resource-constrained settings, where access to advanced diagnostic tools such as cytogenetic testing and cutting-edge therapies such as CAR-T cell therapy is limited. These constraints hinder accurate disease assessment, treatment customization, and exploration of genetic factors, leaving patients without viable options when standard treatments fail. This report highlights the urgent need for globally accessible, standardized protocols and the development of cost-effective therapies to address the challenges of managing rare malignancies such as refractory NB. In resource-limited settings, management of adult-onset neuroblastoma could be improved through early telemedicine consultations, affordable molecular testing for ALK and MYCN, use of generic targeted therapies when available, and participation in regional or international collaborative networks to optimize treatment planning and outcomes. Prioritizing research and collaborative efforts will pave the way toward better understanding and treatment of this rare but severe condition.
Acknowledgments
The authors acknowledge the contributions of the pathology and radiology departments for their support in the diagnostic evaluation of this case.
Abbreviations
- ALK
Anaplastic lymphoma kinase
- ATO
Arsenic trioxide
- CARs
Chimeric antigen receptors
- CAR-T
Chimeric antigen receptor T cell therapy
- CT
Computed tomography
- FISH
Fluorescence in situ hybridization
- FNAC
Fine-needle aspiration cytology
- GFAP
Glial fibrillary acidic protein
- HR-NB
High-risk neuroblastoma
- IHC
Immunohistochemistry
- INRGSS
International Neuroblastoma Risk Group Staging System
- INSS
International Neuroblastoma Staging System
- MAP2
Microtubule-associated protein-2
- NB
Neuroblastoma
- PARP
Poly(ADP-ribose) polymerase
- PHC
Primary healthcare center
- PNA
Peanut agglutinin
- USG
Ultrasonography
Author contributions
NKK: worked up the case, collected material, and prepared the draft manuscript. GP: helped with literature search and draft manuscript preparation. AO: assisted in manuscript drafting and data collection. NN: contributed to literature review and manuscript editing. PP: assisted in manuscript revision and formatting. KB: provided critical insights and contributed to discussion refinement. RR: assisted in data interpretation and manuscript structuring. SK: conceived and designed the study and edited the manuscript for final content. RS: conceived and designed the study and edited the manuscript for final content. SD: conceived and designed the study and edited the manuscript for final content. All authors read and approved the final manuscript.
Funding
No specific funding was received for this study.
Data availability
All data supporting the findings of this case report are included in the manuscript. Additional data can be made available upon reasonable request from the corresponding author.
Declarations
Ethics approval and consent to participate
Ethical approval was not required for this case report as per institutional guidelines.
Consent for publication
Written informed consent was obtained from the patient for publication of this case report and any accompanying images. A copy of the written consent is available for review by the Editor-in-Chief of this journal.
Competing interests
The authors declare no competing interests.
Footnotes
Publisher’s Note
Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.
References
- 1.Mahapatra S, Challagundla KB (2023) Neuroblastoma. In: nih.gov. https://www.ncbi.nlm.nih.gov/sites/books/NBK448111/.
- 2.Suzuki M, Kushner BH, Kramer K, Basu EM, Roberts SS, Hammond WJ, LaQuaglia MP, Wolden SL, Cheung N-KV, Modak S. Treatment and outcome of adult-onset neuroblastoma. Int J Cancer. 2018;143:1249–58. [DOI] [PMC free article] [PubMed] [Google Scholar]
- 3.Reyna-Blanco I, Navarro-Ruesga I, Chávez-Pedraya R, Arenas-Manjarrez E, Santa FJ, Fernández-Noyola G, Pacheco-Gahbler C. Neuroblastoma in adults: differential diagnosis of giant retroperitoneal mass. Revista Médica Del Hospital General De México. 2021. 10.2487/hgmx.200000811. [Google Scholar]
- 4.Riley DS, Barber MS, Kienle GS, et al. CARE guidelines for case reports: explanation and elaboration document. J Clin Epidemiol. 2017;89:218–35. [DOI] [PubMed] [Google Scholar]
- 5.Maris JM. Recent advances in neuroblastoma. N Engl J Med. 2010;362:2202–11. [DOI] [PMC free article] [PubMed] [Google Scholar]
- 6.Godkhindi VM. Adult neuroblastoma-case report and literature review. J Clin Diagn Res. 2016. 10.7860/jcdr/2016/20237.9080. [DOI] [PMC free article] [PubMed] [Google Scholar]
- 7.Rogowitz E, Babiker HM, Kanaan M, Millius R, Ringenberg QS, Bishop MC. Neuroblastoma of the elderly, an oncologist’s nightmare: case presentation, literature review and SEER database analysis. Exp Hematol Oncol. 2014. 10.1186/2162-3619-3-20. [DOI] [PMC free article] [PubMed] [Google Scholar]
- 8.Wu X-L, Dai Y-J, Sun G-Y, Wang L-K, Han L, Qu M, Liu B, Xue J. Adult neuroblastoma in the retroperitoneum. Medicine. 2018;97: e13750. [DOI] [PMC free article] [PubMed] [Google Scholar]
- 9.Franquemont DW, Mills SE, Lack EE. Immunohistochemical detection of neuroblastomatous foci in composite adrenal pheochromocytoma-neuroblastoma. Am J Clin Pathol. 1994;102:163–70. [DOI] [PubMed] [Google Scholar]
- 10.Mandelia A, Agarwala S, Sharma A, Iyer VK, Bhatnagar V. Assessment of fine needle aspiration cytology samples for molecular genetic analysis in neuroblastoma. Pediatr Surg Int. 2013;29:1131–8. [DOI] [PubMed] [Google Scholar]
- 11.Monclair T, Brodeur GM, Ambros PF, et al. The International Neuroblastoma Risk Group (INRG) staging system: an INRG Task Force report. J Clin Oncol. 2009;27:298–303. [DOI] [PMC free article] [PubMed] [Google Scholar]
- 12.Tweddle DA, Pinkerton CR, Lewis IJ, Ellershaw C, Cole M, Pearson AD. OPEC/OJEC for stage 4 neuroblastoma in children over 1 year of age. Med Pediatr Oncol. 2001;36:239–42. [DOI] [PubMed] [Google Scholar]
- 13.Kushner BH, Kramer K, Modak S, Cheung N-KV. Irinotecan plus temozolomide for relapsed or refractory neuroblastoma. J Clin Oncol. 2006;24:5271–6. [DOI] [PubMed] [Google Scholar]
- 14.Liu X, Peng X, Yang S, et al. Salvage chemotherapy regimens with arsenic trioxide for relapsed or refractory neuroblastoma: a promising approach. BMC Cancer. 2024. 10.1186/s12885-024-12884-5. [DOI] [PMC free article] [PubMed] [Google Scholar]
- 15.National Cancer Institute (2019) Neuroblastoma Treatment (PDQ®)–Patient Version. In: National Cancer Institute. https://www.cancer.gov/types/neuroblastoma/patient/neuroblastoma-treatment-pdq.
- 16.Barcikowski J, Fitzgerald MP, Jaffe AM, Mowery D. Unexpected transverse myelitis after dinutuximab therapy for relapsed neuroblastoma: a case report. PM&R. 2016;8: S311. [DOI] [PubMed] [Google Scholar]
- 17.Federico S, Cupit-Link M, Hagiwara K, Zhang J. Clinical response to a PARP inhibitor and chemotherapy in a child with BARD1-mutated refractory neuroblastoma: a case report. Res Square. 2023. 10.2120/rs.3.rs-3250117/v1. [Google Scholar]
- 18.Donfrancesco A, Jenkner A, De Ioris MA, Ilari I, Castellano A, De Laurentis C, Garganese MC, Milano GM, Dominici C. Prolonged response to oral gefitinib, cyclophophamide, and topotecan in heavily pretreated relapsed stage 4 neuroblastoma. J Pediatr Hematol Oncol. 2007;29:799–803. [DOI] [PubMed] [Google Scholar]
- 19.Garrovillo K, Garrett J, Bollin K, Nasraty F, Sikand H. Dinutuximab in adult-onset chemotherapy refractory high-risk neuroblastoma. J Oncol Pharm Pract. 2020;26:2058–65. [DOI] [PubMed] [Google Scholar]
- 20.Hanada R, Yaginuma A, Hayashi Y, Inaba T, Yamamoto K, Imaizumi S, Hirata A, Sugawara T, Aihara T, Miyakawa T. Relapsed stage I neuroblastoma successfully treated by allogeneic bone marrow transplantation in second remission: case report of a 7-year-old girl. Gan To Kagaku Ryoho. 1990;17:1937–9. [PubMed] [Google Scholar]
- 21.Hirano N, Nishikawa K, Hiratsuka T, Suenobu S, Ihara K. Gastric carcinoma as second malignant neoplasm in a survivor from high-risk neuroblastoma. J Pediatr Hematol Oncol. 2019;42:160–2. [DOI] [PubMed] [Google Scholar]
- 22.Jin M, Zhang D, Zhao Q, Zhao W, Huang C, Wang X, Duan C, Su Y, Ma X. Apatinib plus retinoic acid as maintenance for children with relapsed stage 4 high-risk neuroblastoma. Medicine. 2020;99:e20896–e20896. [DOI] [PMC free article] [PubMed] [Google Scholar]
- 23.Mukherji A, Reddy KS, Vivekanandham S. Case report: recurrent olfactory neuroblastoma nasal cavity in young boy refractory to chemotherapy with remission after radiotherapy and sparing of left eye. Gulf J Oncol. 2014;1:89–93. [PubMed] [Google Scholar]
Associated Data
This section collects any data citations, data availability statements, or supplementary materials included in this article.
Data Availability Statement
All data supporting the findings of this case report are included in the manuscript. Additional data can be made available upon reasonable request from the corresponding author.
