Leiomyoma

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Roukoz A. Karam, M.D.[2]; Cafer Zorkun, M.D., Ph.D. [3]; Shanshan Cen, M.D. [4]; Ammu Susheela, M.D. [5]

Synonyms and Keywords: Uterine myoma; Fibroid; Fibroids; Uterine; Fibroid Tumor; Fibroid Uterus; Uterine fibromyoma; Leiomyomata

Overview

Uterine leiomyoma was first discovered by Hippocrates in 460-375 B.C and called it “uterine stone”. Uterine leiomyoma may be classified according to their location into 3 subtypes: submucosal, subserous, and intramural. The pathogenesis of leiomyoma is characterized by benign smooth muscle neoplasm. They can occur in any organ, but the most common forms occur in the uterus, small bowel and the esophagus. Chromosome aberrations such as t(12; 14)(q14-q15;q23–24), del(7)(q22q32), rearrangements involving 6p21, 10q, trisomy 12, and deletions of 1p3q has been associated with the development of leiomyoma. Uterine leiomyoma must be differentiated from other diseases that cause uterine mass, such as: uterine adenomyoma, pregnancy, hematometra, uterine sarcoma, uterine carcinosarcoma, and metastasis. Leiomyoma is more commonly observed among patients aged 40 years and older. Common risk factors in the development of uterine leiomyoma include African-American race, early menarche, prenatal exposure to diethylstilbestrol, having one or more pregnancies extending beyond 20 weeks, obesity, significant consumption of beef and other red meats, hypertension, family history, and alcohol consumption. Physical examination may be remarkable for enlarged, mobile uterus with an irregular contour on bimanual pelvic examination. The mainstay of therapy for uterine leiomyoma is oral contraceptive pills, either combination pills or progestin-only, Gonadotropin-releasing hormone analogs. Surgery is also part of mainstay therapy for uterine leiomyoma.

Historical Perspective

  • Uterine leiomyoma was first discovered by Hippocrates, an ancient Greek physician, in 460-375 B.C and called it “uterine stone”.
  • In the second century AD, Galen described the lesion as "scleromas".
  • In 1860 and 1863, Rokitansky and Klob coined the term fibroid.
  • In 1854, Virchow, a German pathologist, demonstrated that those tumors originated from the uterine smooth muscle.
  • In 1809, the first laparotomy was conducted by Ephraim McDowell to treat leiomyoma in Danville, USA.[1]

Classification

Pathophysiology

Causes

  • Chromosome aberrations in uterine leiomyoma include:[14]
    • T(12;14)(q14-q15;q23–24)
    • Deletion of (7)(q22q32)
    • Rearrangements involving 6p21, 10q
    • Trisomy 12
    • Deletion of 1p3q have been associated with the development of leiomyoma

Differentiating Leiomyoma from other Diseases

Differentiating Leiomyoma from Other Diseases
Disease entity Etiology (Genetic or others) Histopathological findings Immunohistochemical staining Risk factors Common site of involvement Clinical manifestations Other associated features
Leiomyoma[15][16][17][18][19][20][21][22][16][19][23] Positive for:

Negative for:

_
Neurofibroma[24][25][26][27][28][29][30][27][31][32][33][34]

Can be sporadic or as a part of Neurofibromatosis 1 and 2

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

Positive for:

Negative for:

Schwannoma[35][36][37][38][39] Positive for:

Negative for:

Symptoms of schwannoma depend on the location of the tumor:

Palisaded encapsulated neuroma (PEN) /solitary circumscribed neuroma[40] Positive for:

Negative for:

90% lesions affect the face involving:

Remaining 10% can occur anywhere in body involving:

Traumatic neuroma[41][42][43][44] Positive for: Most common oral locations are:

Rarely involves:

Also known as:
Neurotized melanocytic nevus[45][46][47][48] Positive for:

Negative for:

Can occur anywhere in body, mostly involving following areas: _
Cutaneous myxoma (Superficial angiomyxoma)[49][50][51][52] Positive for:

Negative for:

Associated with Carney's complex/syndrome which includes following:

May be associated with NAME or LAMB syndrome

Nerve sheath myxoma[53][54][55][56][57][58] Positive for: _ Can occur anywhere in body:
Malignant peripheral nerve sheath tumor (MPNST)/malignant schwannoma[59][60][61][62][63][64]

Electron microscopy shows:

Positive for:

In case of glandular differentiation (malignant), positive for:

Negative for:

Associated with:

May be associated with:

Bulky deep-seated tumor usually arising from major nerves in:
Dermatofibrosarcoma protuberans (DFSP) Positive for:

Negative for:

_
Spindle cell lipoma Positive for:

Spindle cells are negative for:

_
  • Multiple well-circumscribed painless nodules involving several body parts
_
Ganglioneuroma[65][66] Genes involved in the pathogenesis of ganglioneuroma include:

Two histologic subtypes:

Positive for:

Negative for:

Ganglioneuromas may be associated with:

Located along distribution of sympathetic nervous system:

Symptoms of ganglioneuroma vary depending on the location of tumor, and include the following:

Patients with ganglioneuroma may also have paraneoplastic syndrome, which may manifest with:

Ganglioneuromas are included in the neuroblastic tumors group, which includes:

Myxoid liposarcoma[67][68][69][70][71][72][73][74][75][76]

Atypical lipomatous tumor/well differentiated liposarcoma and dedifferentiated liposarcoma are associated with:

Myxoid liposarcoma is associated with:

Pleomorphicliposarcoma is associated with:

Well-differentiated liposarcoma:

De-differentiated liposarcoma:

Atypical lipomatous tumor/well differentiated liposarcoma is positive for:

_
Leiomyoma[15][16][17][18][19][20][21][22][16][19][23]

Positive for:

Negative for:

_
Inflammatory myofibroblastic tumor(IMT)[15][16][17][18][19][20][21][22][16][19][23]

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

Mutations such as:

Positive for:

Negative for:

Also known as:

Fibroepithelial polyp/Acrochordon[77][78][79][80][81][82][83][84][85][86][87][88][89][90][91][92][93][94][95][96] Associated with: Positive for:

Negative for:

Associated with:

Also known as:

Epidemiology and Demographics

Age

Race

  • Leiomyoma usually affects African-American women.[97]
    • Incidence rates are approximately threefold greater in African-American women than in white women.

Risk Factors

Natural History, Complications and Prognosis

Diagnosis

Diagnostic Study of Choice

Symptoms

  • The majority of patients with leiomyoma are usually asymptomatic.
  • Symptoms of uterine leiomyoma may include the following:[112]

Physical Examination

Imaging Findings

Other Diagnostic Studies

Treatment

Medical Therapy

Surgery

References

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