Rediagnosing one of Smith's patients (John McCann) with "neuromas tumours" (1849)
- PMID: 28078568
- DOI: 10.1007/s10072-016-2797-1
Rediagnosing one of Smith's patients (John McCann) with "neuromas tumours" (1849)
Abstract
In 1849, the Irish Professor of Surgery, Sir Robert William Smith, by publishing his "Treatise on the Pathology, Diagnosis and Treatment of Neuroma", collected six previous examples of "general development of neuromatous tumours" and reported three further cases (two personal and one referred) of what is nowadays known as neurofibromatosis. Among these latter cases, there was a 35-year-old cattle-driver, John McCann, who was first admitted at hospital in 1840 because of a large tumour on the right side of his neck thought to be malignant (and a second tumour sublingually) but not operated. McCann was readmitted in 1843 ("in an emaciated state"), because of an immense tumour in his thigh dying few months later "with hepatic symptoms". Smith's post-mortem examination revealed dozens of smaller additional tumours. Based on application of modern diagnostic criteria (to McCann's portrait at second referral) and on pathological grounds (reconsideration of the histopathological report of McCann's neuroma of the thigh), we tentatively hypothesise that this patient could be the earliest (illustrated) example of either: (1) a malignant peripheral nerve sheath tumour (MPNST); (2) neurofibromatosis type 2 (NF2); or (3) schwannomatosis (SWNTS). The progressively enlarging masses, the emaciated state and the later death are in favour of a MPNST (against is the lack of malignant appearance at histopathology); the clinical (and gross pathological) appearance of the tumours as large, rounded, encapsulated, eccentric lesions deflecting the parent nerve over the surface of the tumour is typical of schwannomas (thus, in favour of NF2 or SWTNS). Whatever diagnosis we could consider these tumours could be secondary to a (local) mosaic loss of heterozygosity and ultimately represent type 2 segmental manifestations superimposed on an ordinary autosomal dominant trait (i.e., NF1, NF2 or SWTNS).
Keywords: Early history; NF1; NF2; Neuroma; Neuromata; Schwannomatosis; Smith.
Similar articles
-
Early history of the different forms of neurofibromatosis from ancient Egypt to the British Empire and beyond: First descriptions, medical curiosities, misconceptions, landmarks, and the persons behind the syndromes.Am J Med Genet A. 2018 Mar;176(3):515-550. doi: 10.1002/ajmg.a.38486. Epub 2018 Feb 1. Am J Med Genet A. 2018. PMID: 29388340 Review.
-
A mosaic pattern of INI1/SMARCB1 protein expression distinguishes Schwannomatosis and NF2-associated peripheral schwannomas from solitary peripheral schwannomas and NF2-associated vestibular schwannomas.Childs Nerv Syst. 2017 Jun;33(6):933-940. doi: 10.1007/s00381-017-3340-2. Epub 2017 Apr 1. Childs Nerv Syst. 2017. PMID: 28365909
-
The molecular pathogenesis of schwannomatosis, a paradigm for the co-involvement of multiple tumour suppressor genes in tumorigenesis.Hum Genet. 2017 Feb;136(2):129-148. doi: 10.1007/s00439-016-1753-8. Epub 2016 Dec 5. Hum Genet. 2017. PMID: 27921248 Free PMC article. Review.
-
Clinical features of spinal schwannomas in 65 patients with schwannomatosis compared with 831 with solitary schwannomas and 102 with neurofibromatosis Type 2: a retrospective study at a single institution.J Neurosurg Spine. 2016 Jan;24(1):145-54. doi: 10.3171/2015.3.SPINE141145. Epub 2015 Sep 25. J Neurosurg Spine. 2016. PMID: 26407091
-
[Neurofibromatosis versus schwannomatosis].Fortschr Neurol Psychiatr. 1998 Jun;66(6):271-7. doi: 10.1055/s-2007-995262. Fortschr Neurol Psychiatr. 1998. PMID: 9676422 German.
References
Publication types
MeSH terms
Supplementary concepts
Personal name as subject
- Actions
LinkOut - more resources
Full Text Sources
Other Literature Sources
Medical
Research Materials
Miscellaneous