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. 2026 Apr 2;17:554. doi: 10.1007/s12672-026-04879-4

Type I neurofibromatosis with a solid pseudopapillary neoplasm of the pancreas: a case report and literature review

Yaliang Yang 1, Fan Zhang 1,✉
PMCID: PMC13069042  PMID: 41927888

Abstract

Background

Neurofibromatosis type 1 (NF1) is associated with various pancreatic tumors. Pancreatic tumors in NF1 are most frequently neuroendocrine tumors (NETs) and less commonly. To date, no cases of NF1 combined with solid pseudopapillary neoplasm of the pancreas (SPN) have been reported. This case report provides the first detailed description of the diagnosis and treatment process of a patient with NF1 combined with pancreatic SPN. By presenting this case, we aim to offer clinicians practical experience and valuable insights to enhance the medical community’s recognition and understanding of this rare disease.

Case presentation

This paper reports a 13-year-old female patient who was diagnosed with NF1 by genetic testing. The pancreatic head mass was found via whole-body MRI screening and was diagnosed as SPN via endoscopic ultrasound-guided fine needle aspiration biopsy. For this patient, our center ‘s plan is : the patient ‘s unresectable facial plexiform neurofibroma is treated with the targeted drug Smetitinib, and the patient ‘s pancreatic head tumor is treated with laparoscopic pancreatic tumor resection. The postoperative recovery was smooth, and there was no disease progression during the 6-month follow-up period. Combined with this case report, we also reviewed the literature concerning NF1 combined with pancreatic tumors.

Conclusion

To our knowledge, this represents the first reported case of neurofibromatosis type 1 (NF1) associated with a solid pseudopapillary neoplasm of the pancreas (SPN). We also reviewed the characteristics of pancreatic tumors in NF1 patients reported in the literature. Combined with this case, we propose that pancreatic endocrine tumors may be one of the particularly rare clinical manifestations in patients with NF1, although further data analysis and molecular mechanism verification are needed. Nevertheless, this case provides valuable inspiration for the diagnosis and treatment of similar cases.

Keywords: Neurofibromatosis, Plexiform neurofibroma, Solid pseudopapillary neoplasm

Background

Neurofibromatosis type I (NF1) is an autosomal dominant hereditary disease. Early detection, early diagnosis and early treatment are the general principles of treatment. Imaging examination plays a vital role in the diagnosis and evaluation of neurofibromatosis. It can not only identify neurofibromas with clinical symptoms but also screen for asymptomatic tumors of other systems. Solid pseudopapillary tumor of the pancreas (SPN) is a rare malignant tumor, and the mechanism of its association with type I neurofibromatosis (NF1) is still unclear. In this paper, a rare case of NF1 combined with SPN was reported. The ‘hidden lesion’ of the pancreas was found via whole-body MRI. The malignant solid pseudopapillary tumor of the pancreas was diagnosed via puncture biopsy and completely resected via surgery, suggesting the importance of whole-body MRI screening in the diagnosis of NF1 patients, especially adolescent patients. In addition, through multidisciplinary joint diagnosis and treatment, the patient’s facial plexiform neurofibroma and malignant pancreatic tumor were successfully treated, which provided a reference for the diagnosis and treatment of such rare diseases.

Case presentation

A 13-year-old female patient was admitted to the hospital because of multiple coffee spots all over the body and a progressive mass in the left face and ear with hearing loss for 13 years. At birth, the patient was found by his parents to have bilateral cheek asymmetry, the left side was larger than the right side, and multiple coffee spots were found throughout the body. With the growth and development of the patient, the patient’s left cheek swelled and drooped, and a left ear cavity mass with a size of approximately 1 × 1 cm appeared. Four years ago, after vascular surgery at another hospital, the left facial venous malformation was diagnosed and treated with multiple sclerosing agent injections. The swelling of the left cheek was relieved after the operation, but the mass in the left ear gradually increased, and the size was approximately 3.5 × 2.5 cm (Figs. 1 and 2). Moreover, the hearing of the left ear decreased. More than one year ago, genetic examination at other hospitals suggested NF1 gene mutation, and the patient was diagnosed with neurofibromatosis type I (NF1). The patient had no history of other diseases and infections. There was no other surgical history. The parents were healthy, and there was no relevant family history.

Fig. 1.

Fig. 1

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Front face

Fig. 2.

Fig. 2

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Side face

Physical examination revealed multiple coffee milk spots throughout the body and bilateral asymmetry. The left side of the face was more swollen than the right side. The left ear and the left parotid gland area were palpable nodular masses that were soft, and the left ear cavity had a visible tumor size of approximately 3.5 × 2.5 cm, blocking the left external auditory canal orifice. Hearing test revealed moderate to severe conductive deafness in the left ear. The abdomen was flat, the abdominal wall vein was not dilated, the abdomen was soft, there was no tenderness or rebound pain, the whole abdomen did not touch the mass, the abdominal mobility was negative, the bowel sounds were normal, and no obvious positive signs were found in the abdominal examination.

Imaging examination: Whole-body MRI revealed that the head and face had a soft tissue mass shadow in the left ear, the boundary was not clear, the size was approximately 2.7 × 3.1 cm, and an enhanced scan revealed enhancement. The soft tissue of the left temporal and ear was thickened, the signal was increased, the enhancement was unevenly enhanced, and the signal of the left longus capitis was uneven (Fig. 3). In the abdomen, rapid abnormal signals were observed in the head of the pancreas. T1/T2 showed mixed signals with equal heights and smooth edges, and the size was approximately 36 mm×32 mm×36 mm (Fig. 4). Chest and abdominal CT examinations revealed a slightly low-density mass in the head of the pancreas, the boundary was still clear, and the boundary with the head of the pancreas was unclear. The size was approximately 36 × 31 mm, and the enhanced scan was unevenly enhanced (Fig. 5).

Fig. 3.

Fig. 3

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The head and face MR images revealed lesions located in the cheeks and ears, indicating invasive growth. a T1 image; b T1 enhanced image; c T2 image

Fig. 4.

Fig. 4

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Abdominal MRI revealed fast abnormal signals in the pancreatic head. a T1 image; b T2 image

Fig. 5.

Fig. 5

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The pancreatic head area was approximately 36 × 31 mm on enhanced CT, and the enhanced scan revealed uneven mild enhancement. a Plain CT scan; b contrast CT image

Therefore, focusing on the above problems, we propose a multidisciplinary (plastic surgery, gastroenterology, and hepatobiliary surgery) combined diagnosis and treatment strategy.

  1. Plastic surgery: Because the tumor is located in important anatomical parts of the face (external auditory canal and parotid gland area), invasive growth has caused moderate to severe deafness in the left ear, and radical resection is no longer possible. The patient is 13 years old and is in a period of rapid facial growth and development. Surgery may affect facial bone development, and reconstruction after resection is extremely difficult. To evaluate the advantages and disadvantages of the above risks, after communicating with family members, targeted therapy with selumetinib was given temporarily (body surface area, 1.456 m2; dose, 35 mg bid). Adverse reactions were monitored monthly, and facial plexiform neurofibroma was treated with drugs. After the tumor was reduced in the later stage, surgical treatment and repair and reconstruction were evaluated.

  2. Digestive medicine: To further clarify the pathological type of the pancreatic tumor, ultrasound-guided endoscopic pancreatic space-occupying biopsy was performed. Intraoperative ultrasound observation of the pancreatic head revealed a 3.6 cm × 3.6 cm spherical hypoechoic mass with clear and regular boundaries, uneven internal echoes, which were mainly hypoechoic, lower echo areas and a lack of blood supply. The echo of the remaining pancreas was uniform, and the main pancreatic duct was slender. The common bile duct does not expand. A total of 6 ml of noncoagulant liquid was extracted and sent for CEA and CA199 detection via two-needle aspiration with a Boko 19G puncture needle. The pathological examination results of the submitted tissues revealed that pancreatic head puncture tissue 1 and puncture tissue 2 were consistent with solid pseudopapillary tumors of the pancreas: CEA and CA199 within normal limits.

  3. Hepatobiliary surgery: Improving perioperative preparation, first by endoscopic retrograde cholangiopancreatography (ERCP)-guided pancreatic duct stent implantation (prevention of postoperative pancreatic leakage). Laparoscopic resection of the pancreatic tumor was performed again: a soft tissue mass with a size of approximately 3.0 cm×3.5 cm×2.0 cm was found in the retroperitoneal area in front of the head of the pancreas. The mass was located on the right side of the superior mesenteric vein (SMV). Part of the pancreatic tissue was cut along the capsule until the mass was completely free and the mass was completely removed. No pancreatic duct stent was observed throughout the process. The wound was bipolarly electrocoagulated, and a 5–0 Prolene suture was used to close the broken end of the blood vessel and stop bleeding. Intraoperative ultrasound examination revealed that the main pancreatic duct and the pancreatic duct stent were in place and complete without injury. Postoperative pathological examination revealed a solid pseudopapillary tumor of the pancreatic head, and no tumor tissue was found in the resection margin of the pancreas.

Through multidisciplinary diagnosis and treatment, the patient was treated with oral administration of drugs targeted by selumetinib. The tumor and drug side effects were followed up monthly in the outpatient department. The facial plexiform neurofibroma was stable, and no progressive increase was observed. The patient recovered well after resection of the pancreatic tumor, and no tumor recurrence was found at the half-year follow-up after the operation (Fig. 6).

Fig. 6.

Fig. 6

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Six months after the operation, CT reexamination showed no obvious progression of pancreatic tumors. a CT before the operation; b CT half a year after the operation

Discussion

NF1 is an autosomal dominant genetic disease that is caused mainly by mutations, microdeletions or other structural variations in the NF1 gene on chromosome 17 [1]. The typical clinical features of the disease include coffee milk spots, freckle-like pigmentation in the armpit or groin area, Lisch nodules (hamartomas) in the iris, and neurofibromas. Among them, neurofibroma is the main clinical manifestation of NF1, which can manifest as cutaneous neurofibroma and plexiform neurofibroma (PNF). Patients with NF1 often have other systemic tumors. Therefore, preoperative systemic imaging examinations, especially systemic MRI examinations, are particularly important for patients with NF1. It can not only clearly diagnose neurofibromas with clinical symptoms but also screen and monitor asymptomatic PNF or other systemic tumors. The Chinese expert consensus for the full-course management of plexiform neurofibroma (2025 edition) also clearly proposed a comprehensive assessment of patients, which can help clinicians better determine the diagnosis and treatment plan for lesions in NF1 patients. MRI is the first-line choice of imaging in PNF. If the tumor has infiltrated the bone structure, a CT examination can be selected for evaluation. Ultrasonography can also be used as an auxiliary diagnostic tool (Evidence B, strongly recommended) [2]. In this case, the patient had no abdominal symptoms or positive signs. If whole-body MRI screening is not performed, the pancreatic tumor can be easily missed. Therefore, we recommend that all NF1 patients, especially adolescent NF1 patients, should be routinely examined via whole-body MRI if there is no contraindication.

A solid pseudopapillary neoplasm of the pancreas (SPN) is a low-grade malignant epithelial exocrine tumor of the pancreas. Pathology is characterized by solid nests and pseudopapillary structures, often accompanied by bleeding and cystic changes [3]. SPNSPNs in children account for approximately 60% of primary pancreatic tumors [4]. According to the Chinese expert consensus for the clinical diagnosis and therapy of solid pseudopapillary neoplasms of the pancreas in children (2023 edition), surgical resection is the preferred treatment for SPN in children. SPN is less invasive, and surgical methods can be selected according to the tumor site, surrounding organs, vascular adjacency and intraoperative conditions. It includes open surgery and laparoscopic surgery. Under the premise of radical resection of the tumor, the function of the pancreas and surrounding organs is preserved to the maximum extent possible. The overall prognosis of patients with SPN is good, and long-term survival can be achieved after surgical resection [5]. In this case, multidisciplinary joint diagnosis and treatment, minimally invasive intervention, and laparoscopic surgery were used to treat SPN accurately. After 6 months of follow-up, there was no disease progression. But the follow-up time is relatively short. Close monitoring of the tumor should be continued at 6, 12, 18, and 24 months after surgery. In patients with NF1, the tumor suppressor gene protein is inactivated after gene mutation, which leads to uncontrolled cell proliferation, resulting in a significant increase in the incidence of benign and malignant tumors in patients with NF1 [6].

NF1-associated abdominal tumors reported in the literature can be classified into five categories: neurogenic tumors, neuroendocrine tumors, nonneurogenic tumors, embryonic tumors, and other tumors [7, 8]. The neurogenic tumors associated with NF1 include plexiform neurofibroma and malignant schwannoma occurring in the abdomen. The predilection sites are paravertebral, mesenteric, etc., and are usually asymptomatic. When the tumor gradually grows, it compresses the surrounding tissue, causing gastrointestinal obstruction, bleeding, pain and other symptoms [9, 10]. Neuroendocrine tumors associated with NF1 include carcinoid and pheochromocytoma, and their clinical manifestations are not significantly different from those of single neuroendocrine tumors [11–13]. NF1 combined with nonneurogenic tumors, namely, gastrointestinal stromal tumors, is different from single gastrointestinal stromal tumors in phenotype and genotype. NF1 combined with gastrointestinal stromal tumors are more likely to be multifocal, common in the small intestine, usually lacking PDGFRA and KIT gene mutations, and less responsive to tyrosine kinase inhibitors [6, 14]. NF1-associated embryonic tumors include nephroblastoma and other adenocarcinomas of the gastrointestinal tract, which are rare and have been reported only in individual cases [15, 16].

Moreover, we reviewed 26 cases of pancreatic tumors associated with NF1 in the literature (including this case) (Table 1). The types included insulinoma, adenocarcinoma, gastrinoma, somatostatinoma, pheochromocytoma, pheochromocytoma, schwannoma, cystadenoma, nonfunctional neuroendocrine tumors, etc. Among them, neuroendocrine tumors (NETs) accounted for 61.5% (16/26) of all tumors, and the proportions of male and female patients were basically the same: 53.8% (14/26) male: 42.3% (11/26) female, 73.1% (19/26) tumors occurred in the pancreatic head. Cases of NF1 combined with SPN are very rare. This case is the first complete report, and this case has unique warning significance.

Table 1.

Pancreatic tumors in NF1 patients

Investigator Age/sex Year Site Pathology
Coskey and Tranquanda [17]. 66/F 1964 Head and tail Insulinoma
Knight et al. [18]. 73/M 1973 unknown Adenocarcinoma
Keller and Logan [19]. 27/F 1977 Head Adenocarcinoma
Niv et al. [20]. 47/M 1987 Head Adenocarcinoma
Saurenmann et al. [21]. 62/M 1987 Head Somatostatinoma
Swinburn et al. [22]. 62/M 1988 Head Somatostatinoma
Walsh and Brandspigel [23]. 35/M 1989 Head Neurilemmoma
Coombs [24]. 74/F 1900 Head Neurilemmoma
Sood et al. [25]. ?/? 1991 unknown Cystadenoma
Fung and Lam [26]. 45/M 1995 Head Insulinoma
Yamamoto et al. [27]. 44/M 1996 Head and tail Adenocarcinoma
Kretzschmar et al. [28]. 58/? 2001 Tail Cystadenoma
Thannberger et al. [29]. 28/M 2001 unknown Somatostatinoma
Fujisawa et al. [30]. 66/F 2002 Head Neuroendocrine neoplasm
Perren et al. [31]. ?/? 2006 pancreas Insulinoma
Barahona-Garrido et al. [32]. 47/F 2009 ectopia Somatostatinoma
Takai et al. [33]. 48/M 2009 Head Somatostatinoma
Bukkems et al. [34]. 49/M 2010 Head Somatostatinoma
Wilsher [35]. 52/F 2011 Head Cystadenoma
Majumder et.al. [36]. 34/F 2012 Head Pheochromocytoma
Nishi et al. [37]. 62/M 2012 Head Neuroendocrine neoplasm
Moletta et al. [38]. 25/M 2012 Head Neuroendocrine neoplasm
Rogers et al. [39]. 75/F 2015 Head Insulinoma
SUN X et al. [40]. 38/F 2017 Head Neuroendocrine neoplasm
Arif, Arif A et al. [41]. 67/F 2021 Head Gastrinoma
Present study 13/F 2025 Head Solid Pseudopapillary Neoplasm of the Pancreas
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From this case, we can conclude that NF1 patients often have superficial lesions as the first clinical manifestation, and whether they are complicated with other systemic lesions needs to be determined, whereas patients with abdominal tumors or other systemic tumors do not have any clinical symptoms or signs at the initial stage, which requires a full and comprehensive evaluation of the patient’s condition, and preoperative routine systemic MRI screening is particularly important; in terms of treatment, PNF is essentially a benign tumor. The choice of surgery and conservative treatment should fully consider the risks and benefits of patients and make a comprehensive judgment. For example, paravertebral PNF may compress the spinal cord, but a common consensus in spinal surgery is that there is no need for surgical treatment in patients without neurological symptoms [42]. The market application of the new MEK inhibitor selumetinib also provides the possibility for drug control of tumor growth. In a phase I clinical study of selumetinib in the treatment of PNF in Chinese children, the objective remission rate was 63% [43]. In this case, NF1 patients who are temporarily unable to undergo complete surgical resection can be treated with oral selumetinib to reduce the volume of the tumor, creating better conditions for possible plastic repair surgery in the future. Through a literature review, we observed that the majority of pancreatic tumors associated with NF1 are endocrine tumors. Whether these findings indicate that pancreatic endocrine tumors might represent an extremely rare clinical manifestation of NF1 requires further extensive data analysis and validation of the associated molecular mechanisms. SPN are typically characterized by mutations in the CTNNB1 gene. A limitation of this study lies in the lack of tumor genetic testing analysis. For such rare associated cases in the future, it is recommended to conduct analyses including CTNNB1 sequencing and whole‑genome sequencing to uncover their potential synergistic carcinogenic mechanisms. This finding also alerts clinicians to remain vigilant for potential pancreatic tumor comorbidities when diagnosing and treating NF1 patients.

Conclusions

In summary, we report for the first time a rare case of neurofibromatosis type 1 (NF1) associated with a solid pseudopapillary neoplasm (SPN) of the pancreas. In this case, whole-body MRI revealed an occult malignant SPN, which was completely resected surgically, underscoring the importance of whole-body MRI screening in NF1 patients, particularly adolescents. Additionally, our review of previously reported pancreatic tumors in NF1 patients suggests that pancreatic endocrine tumors may represent an exceptionally rare clinical manifestation in this population. However, this observation warrants further validation through more extensive data analysis and molecular mechanistic investigations.

Acknowledgements

The authors thank the patients’ families for their cooperation.

Abbreviations

NF1

Neurofibromatosis type 1

SPN

Solid pseudopapillary neoplasm

CT

Computed tomography

MRI

Magnetic resonance imaging

CEA

Carcinoembryonic antigen

NETs

Neuroendocrine tumors

Author contributions

Yaliang Yang collected the clinical data, image data, and pathology data. Fan Zhang was responsible for the revision of the article. The authors read and approved the final manuscript.

Funding

This work was supported by research grants from Chongqing Science and Technology Communication and Popularization Project, China(No. cstc2024kpzx-kphdAX0011).

Data availability

Research data are available from the corresponding author upon reasonable request.

Declarations

Ethics approval and consent to participate

This study was performed in line with the principles of the Declaration of Helsinki. Approval was granted by the First Affiliated Hospital of Army Medical University ETHICAL REVIEW COMMITTEE. Written informed consent for publication has been obtained from the patient’s parents for this case report.

Consent for publication

Written informed consent was obtained from the their parents for the publication of this case report and any accompanying images and data.

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.

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Data Availability Statement

Research data are available from the corresponding author upon reasonable request.

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