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Adult Cardiac Cellular Rhabdomyoma

MedGen UID:
317356
•Concept ID:
C1706729
•
Neoplastic Process
Synonym: Adult Heart Cellular Rhabdomyoma

Definition

A rare cardiac rhabdomyoma occurring in adults. It is characterized by the presence of neoplastic striated muscle cells with eosinophilic granular cytoplasm and increased cellularity. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAdult Cardiac Cellular Rhabdomyoma

Recent clinical studies

Etiology

Molecular assessment of paratesticular rhabdomyomas demonstrates recurrent findings, including a novel H3C2 p.K37I mutation.
Acosta AM, McKenney JK, Sholl LM, Dickson BC, Matoso A, Lu H, Jo VY, Collins K, Ulbright TM, Fletcher CDM
Mod Pathol 2022 Dec;35(12):1921-1928. Epub 2022 Jul 16 doi: 10.1038/s41379-022-01134-3. PMID: 35842480
Fetal cardiac rhabdomyoma due to paternal mosaicism of TSC2: A case report.
Chen L, Jiang Y, Wang J
Medicine (Baltimore) 2020 Aug 28;99(35):e21949. doi: 10.1097/MD.0000000000021949. PMID: 32871942Free PMC Article
Prenatal diagnosis of giant cardiac rhabdomyoma in tuberous sclerosis complex: a new therapeutic option with everolimus.
Mlczoch E, Hanslik A, Luckner D, Kitzmüller E, Prayer D, Michel-Behnke I
Ultrasound Obstet Gynecol 2015 May;45(5):618-21. doi: 10.1002/uog.13434. PMID: 24913039

Diagnosis

Molecular assessment of paratesticular rhabdomyomas demonstrates recurrent findings, including a novel H3C2 p.K37I mutation.
Acosta AM, McKenney JK, Sholl LM, Dickson BC, Matoso A, Lu H, Jo VY, Collins K, Ulbright TM, Fletcher CDM
Mod Pathol 2022 Dec;35(12):1921-1928. Epub 2022 Jul 16 doi: 10.1038/s41379-022-01134-3. PMID: 35842480
Cardiac rhabdomyoma as a possible new prenatal sonographic feature of Prader-Willi syndrome.
Traisrisilp K, Sirikunalai P, Sirilert S, Chareonsirisuthigul T, Tongsong T
J Obstet Gynaecol Res 2022 Jan;48(1):239-243. Epub 2021 Oct 16 doi: 10.1111/jog.15073. PMID: 34655138
Fetal cardiac rhabdomyoma due to paternal mosaicism of TSC2: A case report.
Chen L, Jiang Y, Wang J
Medicine (Baltimore) 2020 Aug 28;99(35):e21949. doi: 10.1097/MD.0000000000021949. PMID: 32871942Free PMC Article
Tuberous sclerosis complex.
Islam MP, Roach ES
Handb Clin Neurol 2015;132:97-109. doi: 10.1016/B978-0-444-62702-5.00006-8. PMID: 26564073
Nevoid basal-cell carcinoma syndrome.
Gorlin RJ
Medicine (Baltimore) 1987 Mar;66(2):98-113. doi: 10.1097/00005792-198703000-00002. PMID: 3547011

Therapy

Prenatal diagnosis of giant cardiac rhabdomyoma in tuberous sclerosis complex: a new therapeutic option with everolimus.
Mlczoch E, Hanslik A, Luckner D, Kitzmüller E, Prayer D, Michel-Behnke I
Ultrasound Obstet Gynecol 2015 May;45(5):618-21. doi: 10.1002/uog.13434. PMID: 24913039
Rhabdomyoma of the soft palate. Fine structural details of a highly differentiated muscle tumor.
Böck D, Böck P
Histol Histopathol 1987 Jul;2(3):285-9. PMID: 2980731

Prognosis

Fetal cardiac rhabdomyoma due to paternal mosaicism of TSC2: A case report.
Chen L, Jiang Y, Wang J
Medicine (Baltimore) 2020 Aug 28;99(35):e21949. doi: 10.1097/MD.0000000000021949. PMID: 32871942Free PMC Article
An unusual tumour: Hamartoma of mature cardiac myocytes.
Mantilla-Hernández JC, Amaya-Mujica J, Alvarez-Ojeda OM
Rev Esp Patol 2019 Jan-Mar;52(1):50-53. Epub 2018 Oct 9 doi: 10.1016/j.patol.2018.07.004. PMID: 30583832
Prenatal diagnosis of giant cardiac rhabdomyoma in tuberous sclerosis complex: a new therapeutic option with everolimus.
Mlczoch E, Hanslik A, Luckner D, Kitzmüller E, Prayer D, Michel-Behnke I
Ultrasound Obstet Gynecol 2015 May;45(5):618-21. doi: 10.1002/uog.13434. PMID: 24913039
Leiomyosarcoma with partial rhabdomyoblastic differentiation: first case report of primary cardiac origin.
Okubo Y, Shibuya K, Namiki A, Takamura K, Kameda N, Nemoto T, Mitsuda A, Wakayama M, Shinozaki M, Hiruta N, Kitahara K, Ishiwatari T, Yamazaki J
BMC Cancer 2011 Feb 17;11:76. doi: 10.1186/1471-2407-11-76. PMID: 21329505Free PMC Article
An autopsy case of tuberous sclerosis associated with primary pericardial mesothelioma.
Naramoto A, Itoh N, Nakano M, Shigematsu H
Acta Pathol Jpn 1989 Jun;39(6):400-6. doi: 10.1111/j.1440-1827.1989.tb02453.x. PMID: 2481938

Clinical prediction guides

Cardiac rhabdomyoma as a possible new prenatal sonographic feature of Prader-Willi syndrome.
Traisrisilp K, Sirikunalai P, Sirilert S, Chareonsirisuthigul T, Tongsong T
J Obstet Gynaecol Res 2022 Jan;48(1):239-243. Epub 2021 Oct 16 doi: 10.1111/jog.15073. PMID: 34655138
Leiomyomatosis-like lymphangioleiomyomatosis: A case report of the colonic manifestation of tuberous sclerosis.
Erginoz E, Taskin HE, Cavus GH, Zengin AK
Medicine (Baltimore) 2021 Dec 17;100(50):e27723. doi: 10.1097/MD.0000000000027723. PMID: 34918628Free PMC Article
Fetal cardiac rhabdomyoma due to paternal mosaicism of TSC2: A case report.
Chen L, Jiang Y, Wang J
Medicine (Baltimore) 2020 Aug 28;99(35):e21949. doi: 10.1097/MD.0000000000021949. PMID: 32871942Free PMC Article
Cardiac rhabdomyoma and tuberous sclerosis in three fetuses: a neuropathological study.
Bordarier C, Lellouch-Tubiana A, Robain O
Brain Dev 1994 Nov-Dec;16(6):467-71. doi: 10.1016/0387-7604(94)90010-8. PMID: 7694997
Nevoid basal-cell carcinoma syndrome.
Gorlin RJ
Medicine (Baltimore) 1987 Mar;66(2):98-113. doi: 10.1097/00005792-198703000-00002. PMID: 3547011

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