Rhabdomyosarcoma differential diagnosis

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

Overview

Rhabdomyosarcoma must be differentiated from wilms tumor, ewing sarcoma, neuroblastoma, pheochromocytoma, liposarcoma, osteosarcoma, acute myelocystic leukemia, acute lymphoblastic leukemia, and non-hodgkin lymphoma. They mostly differentiated by their signs, symptoms, and imaging findings. The gold standard of diagnosis is usually tissue biopsy.

Differential Diagnosis

Disease History/demography Symptoms Physical examination Diagnosis
Palpable mass Pain Others Mass tenderness Others Genetics Imaging Histology
Rhabdomyosarcoma[1][2][3][4]
  • 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[5][6][7][8][9] + + +/- Present mutations of: Ultrasound:

CT scan:

Ewing sarcoma[10][11][12][13] + + + Radiographic of region:

CT scan:

MRI:

Pediatric neuroblastoma [14][15][16][17]

Age distribution:

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

+ (Abdominal)

+

+(Abdominal)

CT scan:

MRI:

Pediatric pheochromocytoma[18][19][20][21] - +/- - 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[22][23][24] + + + Radiography:

CT scan:

MRI:

Pediatric liposarcoma[25][26][27][28] Considered as a nonrhabdomyosarcoma soft tissue sarcomas

One of the least frequent tumors during childhood

Rarely seen in adolescents and age of < 8 years old

Average age is 50 years among adults

Occur mostly in lower extremities, retroperitoneal region, and shoulder

+ +/-
  • Weight loss
  • Fatigue
-
  • N/A
  • Amplification of 12q13–15 region in MDM2 and CDK4 genes
  • Translocation of t(12;16)(q13;p11.2) in myxoid liposarcoma
CT scan:
  • Inhomogenous fatty structure
  • Tumor mineralization
  • Cortical bone erosion
  • Calcification
  • Infiltration to medistinum

MRI:

  • Adipose content mass
  • Thin irregular septa
  • Hemorrhage
  • Necrosis areas
Divided into following subtypes:
  • Well-differentiated
  • Dedifferentiated, Myxoid/roundcell
  • Pleomorphic

Common findings:

  • Lipoblasts presence
  • Cytoplasmic lipid vacuoles
  • Chromatin spikes
Pediatric acute myelocystic leukemia[29][30][31][32]
  • Replacement of normal bone marrow cells with abnormal cells
  • Myeloblast is malignant cell
  • Wide distribution among childhood to adults
  • Survival rate of 60%
  • Common in down syndrome
+/- ( Abdominal mass, mediastinal mass) + (bone pain, joint pain)
  • Bleeding
  • Infectious
+/-
  • Lymphadenopathy
  • Hepatosplenomegaly
  • Bruising
  • Petechiae
  • Pallor face
  • Anemia
  • Fever
Genetic translocations include:
  • t(8;21)
  • t(3;21)
  • t(15;17)
Radiography:
  • Chest radiography:
    • Diagnosis of mediastinal mass
  • Extremities radiography:
    • Metaphyseal bands
    • Lytic lesions
    • New periosteal bone formation
    • Pathologic fractures

CT scan/ MRI:

  • Thickening/ edema of the bowel wall in presence of abdominal pain or bowl infection
  • Detection of early sinusitis
  • Intracranial hemorrhage in presence of neurological symptoms

Radionuclide imaging:

  • Detection of occult infection
  • Hyperplastic bone marrow with leukemia cells replacement
  • Megaloblastic feature
  • decrease in normal hematopoietic cell
Pediatric acute lymphoblastic leukemia[33][34]
  • The most common malignancy among children
  • Few cases may associated with down syndrome, wiskott-aldrich syndrome, andataxia-telangiectasia
  • Peak age of 2-5 years old
  • Previous history of cancer/ drug exposure
  • Bone marrow replaced with malognant lymphoblasts

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

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

Chest x ray:

  • Nodular masses
  • Central lymphadenopathy

Bone x ray:

  • Radiolucent metaphyseal bands
  • Coarse trabeculation
  • Periosteal reactions
  • Osteopenia

Brain MRI:

  • Leukoencephalopathy
  • Glial cell hyperplasia
  • Meningitis
Divided into 3 subgroups:

L1:

  • Small lymphoblast cells
  • Scant cytoplasm
  • Invisible nucleoli

L2:

  • Larger lymphoblast cells
  • Abundant cytoplasm
  • Prominent nucleoli

L3:

  • Large lymphoblast cells
  • Deep cytoplasmic basophilia
  • Similar to Burkitt lymphoma
Pediatric non-hodgkin lymphoma[35][36][37]
  • Cancer derives from lymphocytes
  • diverse age of incidence
  • Associated with autoimmune disorders, previous cancer therapy, and infection
+ -
  • Lymph node swelling
  • Weight loss
  • Anorexia
  • Abdominal pain
  • Nausea/ vomitting
+ (Chest tenderness) Fever

Hepatosplenomegaly Lymphadenopathy Seizure Petechiae

Radiography:
  • Chest x ray:
    • Central lymphadenopathy
    • Pleural effusion
    • Pericardial effusion

CT scan:

  • Presence of enlarged lymph node in chest, abdomen, and pelvis

Ultrasound:

  • Hepatosplenomegaly
Histology findings of non-hodgkin lymphoma depend on:
  • Cell differentiation
  • Cell lineage
  • Location of cell origin

References

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