Esthesioneuroblastoma differential diagnosis

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]Associate Editor(s)-in-Chief: Simrat Sarai, M.D. [2]

Overview

Esthesioneuroblastoma must be differentiated from other tumors with similar histological appearance, such as lymphoma, Ewing sarcoma, melanoma, rhabdomyosarcoma or Merkel cell carcinoma, and small cell carcinoma. Distinguishing esthesioneuroblastomas from the other tumors is of paramount importance because the tumors respond differently to various treatment modalities.[1][2]

Differential Diagnosis

The differential diagnosis of esthesioneuroblastoma includes the following:[1][2]


The outcome of following diseases with various immunohistochemical tests is shown below in a tabular form:

Disease Immunohistochemical Tests
Esthesioneuroblastoma
  • Esthesioneuroblastomas stain positive for neuron-specific enolase and/or S-100 protein,
  • The stain is negative for desmin, cytokeratin, vimentin, actin, glial fibrillary acidic protein, UMB 45, and the common leukocytic antigen.
  • For difficult cases, electron microscopy can be useful.
  • Common features are small, round neuroepithelial cells arranged in rosette or pseudorosette patterns, separated by fibrous elements. The rosettes consist of a central space ringed by columnar cells with radially oriented nuclei.
Lymphoma
  • Lymphoma can be excluded when the majority of tumor cells are negative for CD45 (the remaining positive cells demonstrate no atypical immunophenotype).
Ewing sarcoma
  • Ewing sarcoma is positive for MIC2/CD99 gene products that result from an 11;22 translocation.
Melanoma
  • Melanoma can be identified using a combination of immunohistochemical markers: HMB-45, MART-1/Melan-A, and S-100.
  • S-100 is expressed in more than 95% of melanomas.
Rhabdomyosarcoma
  • Rhabdomyosarcoma displays a loss of chromosome 11 and stains positive for desmin (expressed in 95%), muscle-specific actin, and myoglobin.
Merkel cell carcinoma
  • Merkel cell carcinoma stains positively for low-molecular-weight cytokeratin 20 and NSE.
Neuroblastoma
  • Neuroblastoma often stains positive for NSE, synaptophysin, Leu7, and neurofilament protein.
  • Elevated serum catecholamines are also suggestive of neuroblastoma.
Small cell carcinomas
  • Small cell carcinomas stain positively for chromogranin, NSE, and synaptophysin (presynaptic nerve cell vesicles). Most small cell carcinomas are positive for TTF-1.
Disease History/demography Symptoms Physical examination Diagnosis
Palpable mass Pain Others Mass tenderness Others Genetics Imaging Histology
Rhabdomyosarcoma[3][4][5][6]
  • Most common soft tissue cancer among children and adolescents
  • The third most common extracranial solid tumors
  • Two-third of all cases happen under 6 years old
+ + +/-

Mutations in:

CT scan:

Ultrasound:

MRI:

Wilms tumor[7][8][9][10][11] + + +/- Present mutations of: Ultrasound:

CT scan:

Ewing sarcoma[12][13][14][15] + + + Radiographic of region:

CT scan:

MRI:

Pediatric neuroblastoma [16][17][18][19]

Age distribution:

  • < 1 years old ( 40%)
  • 1-2 years old (35%)
  • > 2 years old (25%)

+ (Abdominal)

+

+(Abdominal)

CT scan:

MRI:

Pediatric pheochromocytoma[20][21][22][23] - +/- - Genetic mutation in: Ultrasound:

CT scan:

MRI (in extra adrenal tumors):

  • T1:
    • Heterogenous enhancement
    • Hypointense
  • T2:
    • Hyperintense
  • T1 C+ (Gd):
    • Heterogenous enhancement

Positive stains for:

Pediatric osteosarcoma[24][25][26] + + + Radiography:

CT scan:

MRI:

Pediatric liposarcoma[27][28][29][30] + +/- -
  • N/A
CT scan:

MRI:

Divided into following subtypes:

Common findings:

Pediatric acute myelocytic leukemia[31][32][33][34] +/- ( Abdominal mass, mediastinal mass) + (bone pain, joint pain) +/- Genetic translocations include:
  • t (8;21)
  • t (3;21)
  • t (15;17)
Radiography:

CT scan/ MRI:

Radionuclide imaging:

Pediatric acute lymphoblastic leukemia[35][36]

+/-( Extramedullary mass in abdomen/ head/ neck)

+/- (Musculoskeletal pain) - Chromosomal translocations:
  • t (9;22)
  • t (12;21)
  • t (5;14)
  • t (1;19)
Radiography:

Chest x ray:

Bone x ray:

Brain MRI:

Divided into 3 subgroups:

L1:

L2:

L3:

Pediatric non-hodgkin lymphoma[37][38][39] + - + (Chest tenderness) Radiography:

CT scan:

Ultrasound:

Histology findings of non-hodgkin lymphoma depend on:

References

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