Chondroblastoma-like mass of the temporal bone, secondary aneurysmal bone cyst, and intracerebral hemorrhage in a patient with cardiofaciocutaneous syndrome: case report

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Cardiofaciocutaneous syndrome (CFCS) is a rare developmental disorder that is phenotypically similar to Noonan syndrome and is associated with mutations in BRAF, MEK1, MEK2, and KRAS. The relationship between malignancy risk and CFCS is unclear with few cases published in the literature. The purpose of this paper is to describe the case of a patient with CFCS presenting in extremis as a result of a large intracerebral hemorrhage arising from a temporal bone mass with histopathology most consistent with chondroblastoma and secondary aneurysmal bone cyst. This is the first case to document an association between CFCS and chondroblastoma.

ABBREVIATIONS ABC = aneurysmal bone cyst; CBT = chondroblastoma; CFCS = cardiofaciocutaneous syndrome; MAPK = mitogen-activated protein kinase; MGCLS = multiple giant cell lesion syndrome.

Article Information

Correspondence Lauren E. Rotman: University of Alabama at Birmingham, AL. lerotman@uabmc.edu.

INCLUDE WHEN CITING Published online May 24, 2019; DOI: 10.3171/2019.3.PEDS18607.

Disclosures The authors report no conflict of interest concerning the materials or methods used in this study or the findings specified in this paper.

© AANS, except where prohibited by US copyright law.

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Figures

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    Preoperative head CT images (obtained without administration of a contrast agent) demonstrating a 103-cm3 mixed-density hemorrhagic mass within the left parietal and temporal lobes (axial views, A and B; coronal view, C) with lytic destruction of the mastoid bone evident with CT bone windowing (D).

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    A and B: Axial T1-weighted contrast-enhanced (A) and T2-weighted FLAIR (B) MR images obtained 2 years prior to hemorrhage displaying no visible pathology within the mastoid bone. C and D: Noncontrast head CT completed 2 years prior to hemorrhage does not demonstrate a mass lesion (C) or bony destruction of the mastoid upon windowing for bone (D).

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    Postoperative axial MR images demonstrating a residual contrast-enhancing mass within the left temporal bone measuring 3.2 cm × 2.6 cm. A: T1-weighted image obtained without gadolinium administration. B: T1-weighted image obtained after gadolinium administration. C: T2-weighted FLAIR image.

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    Photomicrographs of H & E–stained specimens. A: Low-power (100×) image of a section from the initial tumor resection revealing focal cystic blood-filled areas lined by fibrous septae containing fibroblasts, myofibroblasts, inflammatory cells, and occasional osteoclast-like giant cells. B: Higher-power (400×) visualization of osteoclast-like giant cells within the initial tumor. C and D: Low-power (C, 40×) and medium-power (D, 200×) images of sections from the second tumor resection demonstrating mononuclear cells with many small vessels, prominent enlarged nuclei, and prominent nucleoli on a blue-gray “chondroid” or “myxoid” matrix. E and F: Medium-power (E, 200×) and high-power (F, 400×) representations of a giant cell cluster, frequently seen throughout the mass. Figure is available in color online only.

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    Axial MR and CT images obtained after definitive tumor resection. A: Immediate postoperative T1-weighted MR image (obtained without a contrast agent) demonstrating tumor resection and fat graft placement. B: Immediate postoperative head CT demonstrating postoperative findings as seen on MRI. C and D: One-year follow-up contrast-enhanced T1- (C) and T2-weighted FLAIR (D) MR images.

References

  • 1

    Behjati STarpey PSPresneau NScheipl SPillay NVan Loo P: Distinct H3F3A and H3F3B driver mutations define chondroblastoma and giant cell tumor of bone. Nat Genet 45:147914822013 (Erratum in Nat Genet 46:316 2014)

    • Crossref
    • PubMed
    • Search Google Scholar
    • Export Citation
  • 2

    Bertoni FUnni KKBeabout JWHarner SGDahlin DC: Chondroblastoma of the skull and facial bones. Am J Clin Pathol 88:191987

  • 3

    Bian LGSun QFZhao WGShen JKTirakotai WBertalanffy H: Temporal bone chondroblastoma: a review. Neuropathology 25:1591642005

  • 4

    Chen WDiFrancesco LM: Chondroblastoma: an update. Arch Pathol Lab Med 141:8678712017

  • 5

    Cohen MM JrGorlin RJ: Noonan-like/multiple giant cell lesion syndrome. Am J Med Genet 40:1591661991

  • 6

    Demirhan HAcioğlu EDurna YMYiğit ÖBozkurt ERKaragöz Y: Temporal bone localized chondroblastoma. J Craniofac Surg 26:e689e6902015

    • Crossref
    • Search Google Scholar
    • Export Citation
  • 7

    Gaudet EL JrNuss DWJohnson DH JrMiranne LS Jr: Chondroblastoma of the temporal bone involving the temporomandibular joint, mandibular condyle, and middle cranial fossa: case report and review of the literature. Cranio 22:1601682004

    • Crossref
    • PubMed
    • Search Google Scholar
    • Export Citation
  • 8

    Ghekiere JGeusens ELateur LSamson ISciot RBaert AL: Chondroblastoma of the patella with a secondary aneurysmal bone cyst. Eur Radiol 8:9929951998

  • 9

    Hiraumi HArakawa YYamamoto NSakamoto TIto J: Temporal bone chondroblastoma totally invisible on MRI. Auris Nasus Larynx 43:4684712016

  • 10

    Horn KLHankinson HNagel BErasmus M: Surgical management of chondroblastoma of the temporal bone. Otolaryngol Head Neck Surg 102:2642691990

  • 11

    Karbach JCoerdt WWagner WBartsch O: Case report: Noonan syndrome with multiple giant cell lesions and review of the literature. Am J Med Genet A 158A:228322892012

    • Crossref
    • PubMed
    • Search Google Scholar
    • Export Citation
  • 12

    Kim SMHong SWRyu DJHuh JK: Chondroblastoma of the temporomandibular joint lateral capsule: a case report. Cranio 33:3063112015

  • 13

    Kubota YMitsukawa NArikawa RAkita SSatoh K: Fronto-parietal osteoblastoma with secondary aneurysmal bone cyst: a case report. J Plast Reconstr Aesthet Surg 66:2702732013

    • Crossref
    • PubMed
    • Search Google Scholar
    • Export Citation
  • 14

    Kurokawa RUchida KKawase T: Surgical treatment of temporal bone chondroblastoma. Surg Neurol 63:2652682005

  • 15

    Kurt AMUnni KKSim FHMcLeod RA: Chondroblastoma of bone. Hum Pathol 20:9659761989

  • 16

    Moon ISKim JLee HKLee WS: Surgical treatment and outcomes of temporal bone chondroblastoma. Eur Arch Otorhinolaryngol 265:144714542008

  • 17

    Narita YMorimoto TNishikawa RSasaki TTakakura KMizuno M: [Chondroblastoma of the temporal bone—report of a case and a review of the literature of 54 cases.] No To Shinkei 44:1431481992 (Japanese)

    • Search Google Scholar
    • Export Citation
  • 18

    Narumi YAoki YNiihori TNeri GCavé HVerloes A: Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: overlapping clinical manifestations with Costello syndrome. Am J Med Genet A 143A:7998072007

    • Crossref
    • PubMed
    • Search Google Scholar
    • Export Citation
  • 19

    Nava CHanna NMichot CPereira SPouvreau NNiihori T: Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome. J Med Genet 44:7637712007

    • Crossref
    • PubMed
    • Search Google Scholar
    • Export Citation
  • 20

    Neumann TEAllanson JKavamura IKerr BNeri GNoonan J: Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndrome. Eur J Hum Genet 17:4204252009

    • Crossref
    • PubMed
    • Search Google Scholar
    • Export Citation
  • 21

    Niihori TAoki YNarumi YNeri GCavé HVerloes A: Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome. Nat Genet 38:2942962006

  • 22

    Ohnishi TOku YYamamoto KMorimura YUshio Y: Benign chondroblastoma of the occipital bone. Surg Neurol 24:52561985

  • 23

    Oliveira AMPerez-Atayde ARInwards CYMedeiros FDerr VHsi BL: USP6 and CDH11 oncogenes identify the neoplastic cell in primary aneurysmal bone cysts and are absent in so-called secondary aneurysmal bone cysts. Am J Pathol 165:177317802004

    • Crossref
    • PubMed
    • Search Google Scholar
    • Export Citation
  • 24

    Rauen KA: The RASopathies. Annu Rev Genomics Hum Genet 14:3553692013

  • 25

    Reynolds JFNeri GHerrmann JPBlumberg BColdwell JGMiles PV: New multiple congenital anomalies/mental retardation syndrome with cardio-facio-cutaneous involvement—the CFC syndrome. Am J Med Genet 25:4134271986

    • Crossref
    • PubMed
    • Search Google Scholar
    • Export Citation
  • 26

    Rodriguez-Viciana PTetsu OTidyman WEEstep ALConger BACruz MS: Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome. Science 311:128712902006

    • Crossref
    • PubMed
    • Search Google Scholar
    • Export Citation
  • 27

    Schajowicz FGallardo H: Epiphysial chondroblastoma of bone. A clinico-pathological study of sixty-nine cases. J Bone Joint Surg Br 52:2052261970

    • Crossref
    • Search Google Scholar
    • Export Citation
  • 28

    Stapleton CJWalcott BPLinskey KRKahle KTNahed BVAsaad WF: Temporal bone chondroblastoma with secondary aneurysmal bone cyst presenting as an intracranial mass with clinical seizure activity. J Clin Neurosci 18:8578602011

    • Crossref
    • PubMed
    • Search Google Scholar
    • Export Citation
  • 29

    Suneja RGrimer RJBelthur MJeys LCarter SRTillman RM: Chondroblastoma of bone: long-term results and functional outcome after intralesional curettage. J Bone Joint Surg Br 87:9749782005

    • Crossref
    • PubMed
    • Search Google Scholar
    • Export Citation
  • 30

    Tan HYan MYue BZeng YWang Y: Chondroblastoma of the patella with aneurysmal bone cyst. Orthopedics 37:e87e912014

  • 31

    Varvares MACheney MLGoodman MLCeisler EMontgomery WW: Chondroblastoma of the temporal bone. Case report and literature review. Ann Otol Rhinol Laryngol 101:7637691992

    • Crossref
    • PubMed
    • Search Google Scholar
    • Export Citation
  • 32

    Xu HNugent DMonforte HLBinitie OTDing YLetson GD: Chondroblastoma of bone in the extremities: a multicenter retrospective study. J Bone Joint Surg Am 97:9259312015

    • Crossref
    • PubMed
    • Search Google Scholar
    • Export Citation
  • 33

    Zhang SJia BLi HYou C: Exceptional rare giant craniofacial chondroid tumor in adult. World Neurosurg 98:867.e1867.e32017

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