Neurofibroma differential diagnosis: Difference between revisions

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| style="background:#DCDCDC;" align="center" + |'''Leiomyoma'''
| style="background:#DCDCDC;" align="center" + |'''Leiomyoma'''
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* Loss of normal [[chromosome]] 1q ([[hereditary]][[leiomyomatosis]])
* [[Renal cell cancer]](HLRCC) [[gene mutation]]
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* Prominent [[cellular]][[atypia]]
* [[Nuclear]] [[atypia]], including [[nuclear]][[pleomorphism]], hyperchromatism, irregularity in [[nuclear]]<nowiki/>membranes, high [[nuclear]] size, and prominent [[nucleoli]]
* Abundant [[mitoses]], [[mitotic index]] higher than 10 or more per 10 high-power fields
* [[Area]]<nowiki/>s of [[coagulative necrosis]] ([[tumor cell]][[necrosis]]), always accompanied by [[Cytological|cytologic]] [[atypia]] and brisk [[mitotic]] [[Activity (chemistry)|activity]]
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Positive for:
* HHF35 (90%)
* Alpha-[[smooth muscle]] [[actin]] (90%)
* [[Vimentin]]
* [[Desmin]] (75%)
* H-[[caldesmon]]
* [[Phosphotungstic acid hematoxylin|PTAH]] ([[Stain|stains]][[myofibrils]])
* [[Keratin]] (30%)
* [[ER]] (usually in [[uterine]] and [[female]][[retroperitoneal]][[tumors]])
* [[S100A1|S100]] (occasionally weak [[staining]])
* EMA (may be focal)
* [[CD34]]
Negative for:
* [[CD117]]
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* Immundeficiency ([[HIV]])
* [[Dioxin|Digoxin]] [[Exposure assessment|exposure]]
* [[HHV-8|Human herpes virus type-8 (HHV-8)]]
* [[Epstein barr virus mononucleosis|Epstein barr virus]]
* Long term [[tamoxifen]] use
* [[History and Physical examination|History]] of [[pelvic]][[Radiation|radiations]]
* [[Hereditary]] [[breast carcinoma]] with [[BRCA1]][[mutation]]
* [[Hereditary nonpolyposis colorectal cancer|Hereditary nonpolyposis colorectal carcinoma]] with [[MSH2]] [[mutation]]
* [[Li-Fraumeni syndrome]]
* [[Malignant]] [[melanoma]]
* [[Retinoblastoma]]
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* [[Uterus]]
* [[Abdomen]]
* [[Esophagus]]
* [[Rectum]]
* [[Skin]] / [[subcutis]]
* [[Retroperitoneum]]
* [[Extremities]]
* Large [[vessels]]([[inferior vena cava]], [[saphenous vein]], [[femoral vein]], [[pulmonary artery]], [[femoral artery]])
* [[Superficial]] or deep [[Soft tissue|soft tissues]]
* [[Bone]]
* [[Breast]]
* [[Colon]]
* [[Epididymis]]
* [[Mediastinum]]
* [[Lungs]]
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* [[Asymptomatic]]
* [[Uterine|(uterine]] [[leiomyosarcoma]]<nowiki/>may be associated with:
** Irregular [[vaginal bleeding]](intermenstrual or [[postmenopausal]])
** New [[lump]] or a [[mass]]<nowiki/>protruding into [[vagina]]<nowiki/>or growing [[mass]] in [[abdomen]] or [[pelvis]]
** [[Abdominal pain]]
** [[Abdominal distension]]
** [[Pelvic pain]]
** [[Urinary system|Urinary]] [[symptoms]]
* [[Esophageal]][[leiomyosarcoma]] may cause:
** [[Dysphagia]]
** [[Hematemesis]]
* [[rectal]] [[leiomyosarcoma]]<nowiki/>may cause:
** [[Black]], [[tarry stools]]
** [[Rectal bleeding]]
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| style="background:#DCDCDC;" align="center" + |'''[[Inflammatory]] myofibroblastic [[tumor]](IMT)'''
| style="background:#DCDCDC;" align="center" + |'''[[Inflammatory]] myofibroblastic [[tumor]](IMT)'''
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Unknown underlying [[etiology]], may be due to [[inflammatory]] reaction to:
Unknown underlying [[etiology]], may be due to [[inflammatory]] reaction to:
* [[Infection]]
* [[Infection]]
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* Absent hyperchromasia and atypical [[mitoses]]
* Absent hyperchromasia and atypical [[mitoses]]
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Positive for:
Positive for:
* IG+ ([[plasma cells]])
* IG+ ([[plasma cells]])
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** [[Seizures]]
** [[Seizures]]
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Also known as:
Also known as:
* Pseudo-[[inflammatory]][[tumors]]
* Pseudo-[[inflammatory]][[tumors]]

Revision as of 19:30, 22 April 2019

Neurofibroma Microchapters

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Sara Mohsin, M.D.[2] Shanshan Cen, M.D. [3]

Overview

Neurofibroma must be differentiated from schwannoma, dermatofibrosarcoma protuberans (DFSP), ganglioneuroma, and melanocytic nevus.

Differential Diagnosis

Neurofibroma must be differentiated from:[1][2][3]

Differentiating neurofibroma from other diseases
Disease entity Etiology (Genetic or others) Histopathological findings Immunohistochemical staining Risk factors Common site of involvement Clinical manifestations Other associated features
Neurofibroma
  • Uniphasic, low to moderate cellularity
  • Non-encapsulated
  • Random pattern, only rare palisading
  • No well formed verocy bodies
  • Cells separated by collagen bundles
  • Hypocellular with abundant mucinous matrix
  • No peripheral perineural capsule
  • Frequent mast cells
  • Contains neural fibroblasts and fibrillary collagen
  • Random proliferation of Schwann cells and scattered admixed axons
  • No nevoid cells
  • No epithelial component
  • Diffuse growth pattern
  • Scant cytoplasm
  • Wavy cells with buckled nuclei
  • Pseudomeissnerian bodies representing specific differentiation may be present
  • Lacks storiform pattern

Neurofibroma with degenerative atypia ("ancient change") has following microscopic features:

  • Localized cells with large pleomorphic nuclei, cytoplasmic nuclear inclusions, smudgy chromatin, and inconspicuous nuclei
  • Absent or very low mitotic activity
  • Low to moderate cellularity
Positive for:
  • NF-1 associated
  • Can occur anywhere
  • Nerve often not identified, incorporates nerve, axons often present in lesion
  • Seldom cystic
  • Frequently multiple
  • Widespread soft tissue infiltration
  • Tends to displace adnexa
  • <2cm in diameter
  • Lacks distinct lobulation
  • Lacks fat
Schwannoma
  • Encapsulated
  • Biphasic (majority entirely hypercellular Antoni A & hypocellular Antoni B)
  • Palisading
  • Verocay bodies
  • Infrequent extracellular collagen
Positive for:
  • NF-2 associated
  • Nerve often identifiable
  • Eccentric to nerve, axons generally absent within lesion
  • Occasionally cystic
Palisaded encapsulated neuroma Positive for:
  • EMA

Negative for:

  • 90% lesions affect the face
  • No known familial association
Traumatic neuroma
  • Numerous well formed small nerve twigs
  • Limited soft tissue infiltration
  • Contains axons in haphazardly arranged nerves
  • History of trauma or surgery
Neurotized Melanocytic Nevus
  • Superficial classic nevoid melanocytes
  • Congenital and nested growth patterns
  • More abundant cytoplasm
  • Tends to surround adnexa
Positive for:

Negative for:

  • Factor XIIIa
Cutaneous Myxoma (Superficial angiomyxoma)
  • Spindle to stellate cells with oval nuclei
  • 1-5cm in diameter
Positive for:
  • Associated with Carney complex
Nerve sheath myxoma Positive for:
Malignant peripheral nerve sheath tumor
  • Generalized atypia
  • Increased mitotic activity
  • Diffuse hypercellularity
Positive for:
Dermatofibrosarcoma protuberans (DFSP)
  • More cellular
  • Distinct storiform pattern
  • Usually forms a mass
Strongly positive for:

Negative for:

  • Deep soft tissue of posterior neck
Spindle cell lipoma
  • Delicate encapsulation
  • Mostly cases contain fat
  • Floret cell formation
  • No degenerative atypia
Positive for:
  • CD34 (strongly)
  • S-100(stains only fat cells)
Ganglioneuroma
Myxoid liposarcoma
Leiomyoma

Positive for:

Negative for:

_
Inflammatory myofibroblastic tumor(IMT)

Unknown underlying etiology, may be due to inflammatory reaction to:

Mutations such as:

Positive for:

Negative for:

Also known as:

Acrochorda

References


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