Cutaneous malignant glomus tumours: applicability of currently established malignancy criteria for tumours occurring in the skin.

Glomus tumours (GTs) have traditionally been classified into benign GTs, GTs with uncertain malignant potential and malignant GTs, based on a combination of criteria such as size of the tumour, degree of nuclear atypia and the level of mitotic activity. Several of the proposed grading criteria are difficult, or even impossible to apply for GTs occurring in the skin. The aim of the study was to analyse the applicability of the currently established GT malignancy criteria for tumours occurring in the skin and to establish their prognostic significance. A total of 25 benign cutaneous GTs, 11 new cutaneous malignant GTs and 36 cutaneous malignant GTs previously published in the literature were studied. We analysed the following clinicopathological features and correlated them with disease outcome: age, sex, site, size, depth of invasion, degree of nuclear atypia, mitotic activity, growth pattern, vascular invasion, spindle-cell morphology and tumoural necrosis. Of all the clinicopathological parameters analysed, only tumoural necrosis was found by univariate analysis (p = 0.001) to be associated with adverse biological behaviour, and none by multivariate analysis. Multivariate statistical analysis failed to detect any clinicopathological features predictive of the disease outcome (e.g., local recurrence, development of metastatic spread and/or death of disease) in cutaneous malignant GTs. Furthermore, the currently established malignancy criteria for cutaneous GTs can be difficult to apply, mainly due to their smaller size. Likewise, counting mitotic activity per 50 high power fields can often not be accomplished in GTs occurring at superficial locations. Complete excision of these tumours coupled with long-term follow-up is the mainstay of treatment for cutaneous malignant GTs. The results of our study also suggest that cutaneous malignant GTs follow a more indolent clinical course than their deep soft tissue counterparts.

Type 2 segmental glomangiomas.

Glomangiomas of the skin, currently named glomuvenous malformations (GVMs), are benign vascular lesions composed of thin-walled distorted blood vessels, surrounded by variable rows of glomus cells. These cells resemble the modified smooth muscle cells of the normal glomus body. Glomuvenous malformations occur after both alleles of the gene encoding for glomulin, a molecule involved in smooth muscle cell differentiation, are hit by a loss-of-function mutation. Multiple GVMs are rare and often congenital, but they may also appear later in life. In this report we describe a 39-year-old man who developed unilateral segmental GVMs on his trunk in early childhood, with the histological features of glomangiomas. As several satellite lesions emerged at distant skin sites later in life, our case probably represents type 2 segmental GVMs, caused by localized loss of heterozygosity in an individual carrying a heterozygous germline mutation in the glomulin gene.

[Vascular malformations (I). Concept, classification, pathogenesis and clinical features]. / Malformaciones vasculares (I). Concepto, clasificación, fisiopatogenia y manifestaciones clínicas.

Vascular malformations are anomalies always present at birth that, contrary to hemangiomas, never regress and may grow during lifetime. Clinical presentation of vascular malformations is extremely variable and ranges from asymptomatic spots of mere aesthetic concern to lesions with high blood flow or located in critical sites that may be life-threatening. Given the low incidence of these disorders it is difficult to establish therapeutic guidelines. In addition to a correct classification of vascular anomalies, it is necessary a multidisciplinary approach for the follow-up and management of these patients. The first part of this review focuses on the different classifications of vascular anomalies, maintaining as reference the one proposed by the International Society for the Study of Vascular Anomalies (ISSVA). Additionally, clinical features of the different subtypes of vascular anomalies as well as their association in certain syndromes are reviewed.

Tumores glómicos de oído medio / Glomus tumor of the middle ear

Se hace un análisis y revisión bibliográfica de los tumores más frecuentes del oído medio, enfocando fundamentalmente los aspectos etiológicos, clasificación y tratamiento de estos tipos de tumores. En segundo lugar, se esboza el papel que desempeña la radioterapia en los estadíos avanzados, según la clasificación de Alford y Guilford, a pesar de que estos tumores son relativamente radioresistentes. El pronóstico depende de la extensión de la enfermedad. Finalmente, se concluye que la clave del tratamiento, luego de llegar al diagnóstico por la clínica y el estudio imagenológico, es la extirpación quirúrgica. (AU)

Glomangiomioma múltiple familiar / Familial multiple glomangiomyoma

Los tumores glómicos son neoplasias benignas derivadas de anastomosis arteriovenosas cutáneas especializadas que sirven para regular la temperatura. Pueden ser solitarios o múltiples. El tumor glómico solitario es bastante común; aparece habitualmente en adultos jóvenes en forma de un nódulo rojo-azulado, característicamente asociado con dolor paroxístico y localización acral. La forma múltiple es rara, mostrando una edad de aparición precoz y herencia de tipo autosómica dominante. Histopatológicamente, los tumores glómicos muestran proporciones variables de células glómicas, vasos sanguíneos y músculo liso. De acuerdo a ésto, se clasifican como tumor glómico sólido, glomangioma y glomangiomioma, siendo el último de ellos el menos común. Los tumores glómicos múltiples son predominantemente glomangiomas. Presentamos un caso familiar de glomangiomioma múltiple

Glomangiomioma múltiple familiar / Familial multiple glomangiomyoma

Los tumores glómicos son neoplasias benignas derivadas de anastomosis arteriovenosas cutáneas especializadas que sirven para regular la temperatura. Pueden ser solitarios o múltiples. El tumor glómico solitario es bastante común; aparece habitualmente en adultos jóvenes en forma de un nódulo rojo-azulado, característicamente asociado con dolor paroxístico y localización acral. La forma múltiple es rara, mostrando una edad de aparición precoz y herencia de tipo autosómica dominante. Histopatológicamente, los tumores glómicos muestran proporciones variables de células glómicas, vasos sanguíneos y músculo liso. De acuerdo a ésto, se clasifican como tumor glómico sólido, glomangioma y glomangiomioma, siendo el último de ellos el menos común. Los tumores glómicos múltiples son predominantemente glomangiomas. Presentamos un caso familiar de glomangiomioma múltiple (AU)

Glomangiomyoma of the nasal cavity.

Glomus tumor is a rare neoplasm that typically occurs in soft tissue of the extremity, particularly the subungual region of the finger tip. It rarely occurs in the nasal septum. Glomangiomyoma is a rare histologic variant of glomus tumor. The authors describe a case of glomangiomyoma of the nasal septum that presented as nasal obstruction. The histologic, immunohistochemical, and electronmicroscopic findings are described. The otolaryngologist and surgical pathologist should be aware of such an entity, and should not confuse it with the totally unrelated glomus jugulare tumor, or paraganglioma of the middle ear.

Recurrent glomus tumor of the pinna: report of a case.

We describe a rare case of a glomus tumor of the pinna. The lesion produced a brief but sharp pain that occurred spontaneously, intermittently, and upon tactile stimulation. Surgical excision with wide margins was successful. We believe this to be only the third case of a glomus tumor of the auricle that has been reported in the literature.

Atypical and malignant glomus tumors: analysis of 52 cases, with a proposal for the reclassification of glomus tumors.

Occasional glomus tumors display unusual features, such as large size, deep location, infiltrative growth, mitotic activity, nuclear pleomorphism, and necrosis. Although a small number of purportedly malignant glomus tumors have been described, histologic criteria for malignancy in glomus tumors have never been elaborated. The authors studied 52 unusual glomus tumors (retrieved from their consultation files) previously diagnosed as "atypical" or "malignant" by virtue of nuclear atypia, infiltrative growth, or mitotic activity. They evaluated size, depth, growth pattern, cellularity, nuclear grade, number of mitotic figures per 50 high-power fields (HPF), atypical mitotic figures, vascular space involvement, and necrosis to define criteria for malignancy in glomus tumors. Estimated relative risk was calculated and the Fisher exact test was used for statistical analysis. The 27 female patients and the 25 male patients ranged in age from 8 to 83 years (median age, 43 years). The tumors measured from 0.2 to 12 cm (median size, 2 cm) and occurred predominantly in the extremities, in both the superficial (n = 35) and deep (n = 17) soft tissues. Atypical features were usually observed centrally with a rim of benign-appearing glomus tumor. Follow-up information (n = 35; range, 5 months-23 years; mean 5.5 years) showed seven recurrences, eight metastases, and seven deaths from disease. Five-year cumulative metastatic risk increased significantly for tumors with a deep location (p = 0.005), with a size of more than 2 cm (p = 0.004), and with atypical mitotic figures (p = 0.004). Mitotic activity of more than 5 mitoses/50 HPF, high cellularity, the presence of necrosis, and moderate to high nuclear grade approached but did not reach significance. High nuclear grade alone, infiltrative growth, and vascular space involvement were not associated with metastasis. The authors propose the following classification scheme and criteria. Malignant glomus tumor: Tumors with a deep location and a size of more than 2 cm, or atypical mitotic figures, or moderate to high nuclear grade and > or =5 mitotic figures/50 HPF. Symplastic glomus tumor: Tumors with high nuclear grade in the absence of any other malignant feature. Glomus tumor of uncertain malignant potential: Tumors that lack criteria for malignant glomus tumor or symplastic glomus tumor but have high mitotic activity and superficial location only, or large size only, or deep location only. Glomangiomatosis: Tumors with histologic features of diffuse angiomatosis and excess glomus cells. Using this classification scheme, metastasis was observed in 38% of tumors fulfilling the criteria for malignancy. In contrast, metastatic disease was not seen in any specimen classified as symplastic glomus tumor, glomus tumor of uncertain malignant potential, or glomangiomatosis.

Multiple familial cutaneous glomangioma: a pedigree of 4 generations and critical analysis of histologic and genetic differences of glomus tumors.

BACKGROUND: Glomangiomas are benign tumors arising from neuromyoarterial cells surrounding cutaneous arteriovenous anastomoses that serve as temperature regulators. They exist as solitary or multiple types, occurring sporadically or in a familial pattern, the latter of which is rare. OBJECTIVE: We describe a 4-generation pedigree of familial cutaneous glomangioma, in addition to the 3 other well-documented pedigrees reported in the literature to date, and we clarify ways in which to distinguish the different types of glomus tumors. METHODS: Nodular skin lesions of 4 affected family members were analyzed by histologic, immunohistologic, and electron microscopic methods. To elucidate the gene defect in this family, we searched for a linkage to a candidate locus on chromosome 11q23 previously identified in paragangliomas, one form of glomus tumor, in 16 family members of 4 generations by using polymorphic markers. RESULTS: The diagnosis of disseminated cutaneous glomangiomas was confirmed histologically in 4 family members of 3 different generations. Glomangiomas were transmitted in an autosomal dominant pattern via the paternal line. Genetic linkage analysis of the affected family members excluded linkage to chromosome 11q23. CONCLUSION: An autosomal dominant pattern of inheritance has been described for glomus tumors of the paraganglioma type originating from the APUD cell system, the underlying genetic defect of which has been mapped to chromosome 11q23. In contrast, we show that the genetic defect in disseminated cutaneous glomus tumors of the glomangioma type deriving from smooth muscle cells or pericytes is not linked to chromosome 11. Thus we suggest that the common term glomus tumor, used for both paragangliomas and glomangiomas in the current literature, is misleading and should be avoided because these tumors have different histologic derivation and genetic origin.

Type 2 segmental manifestation of multiple glomus tumors: A review and reclassification of 5 case reports.

BACKGROUND: In various autosomal dominant skin disorders, segmental forms reflecting mosaicism have been reported. Recently, two different types of mosaic manifestation have been delineated. Type 1 reflects heterozygosity for the underlying mutation and shows a degree of severity as observed in the corresponding nonmosaic phenotype. Type 2 originates from loss of heterozygosity, shows an excessively severe involvement and is usually superimposed on the disseminated lesions of the ordinary trait. OBJECTIVE: We wanted to exemplify further the proposed rule of dichotomy. METHODS: We have screened the literature on multiple glomus tumors, a trait that follows an autosomal dominant mode of transmission. RESULTS: We found 5 cases of multiple glomus tumors suggesting a type 2 segmental involvement. In all of these cases, a unilateral band-like or patchy arrangement of excessively pronounced glomus tumors was associated with disseminated lesions corresponding to the ordinary phenotype, and in 3 cases other family members were affected with disseminated glomus tumors. The unilateral agminated lesions were reported to be present in early childhood, whereas the disseminated lesions appeared later. CONCLUSION: Multiple glomus tumors can be added to the list of autosomal dominant skin disorders that may show a type 2 segmental involvement.

Standard and high resolution magnetic resonance imaging of glomus tumors of toes and fingertips.

BACKGROUND: High-resolution magnetic resonance imaging (MRI) of subungual glomus tumors has been recently reported. OBJECTIVE: Our purpose was to compare high-resolution MRI and standard MRI for the diagnosis of 44 glomus tumors of the toes and fingertips. METHODS: Glomus tumors (11 cases) were first examined by MRI with a commercial surface coil (set 1). Thirty-three other glomus tumors and one tumor from set 1 were then examined with a high-resolution module designed for skin imaging (set 2). RESULTS: All 44 glomus tumors were identified with MRI. The limits of the tumors were detected in 54% of set 1 and 100% of set 2. A capsule was present in most cases, but was incomplete or absent in eight cases. Subtypes of glomus tumors were more easily differentiated in set 2. CONCLUSION: Standard MRI was adequate to detect glomus tumors, but high-resolution MRI assessed tumor characteristics more accurately.

Glomus tumor. A histological, histochemical and immunohistochemical study of the various types.

Glomus tumors are benign lesions composed of vessels and glomocytes in varying proportions. The histological appearance of the tumors depend upon the ratio of the vascular to the glomus cells and their differentiation as well as upon the amount and composition of the stroma. The aim of the present study was the establishment of criteria for the distinction of glomus tumor-like malformations from neoplasms with glomus cell differentiation. Using a panel of monoclonal and polyclonal antibodies (vimentin, a-smooth muscle actin, desmin, pan-keratin, low molecular weight cytokeratin, EMA, NSE, S-100 protein, Factor VIII, a1-ACT) glomus tumors could be separated into three types: vascular, cellular with myxoid stroma and cellular, solid type. In the first two types the tumor growth is composed of all three components found in normal glomus body, but in a haphazard fashion and thus might be considered as tumor-like malformations. The third type is composed of perivascular arranged cells most of which acquire the phenotypical characteristics of glomocytes. This last tumor probably represent the neoplastic variant of the group of lesions designated by the term glomus tumor.

Glomus tumors of temporal bone

The development of new diagnostic tools, microsurgical techniques and a review of the current classifications used of glomus tumors of temporal bone, led the authors to propose a new way to calssify these lesions. This classification is based on two anatomical landmarks: the temporal bone and the dura mater. These anatomical structures delineate three levels, where the tumors can be located: level E (ear), level N (neck), and level I (intradural). In this way, glomus tumors of temporal bone are grouped in four type E (ear), the tumor is limited to level E; type EN (ear and neck), the tumor is located in both levels E and N; type ENI (ear, neck and intradura), the tumor involves the three levels; and type M (miscellanea). Tumors type M are rare and comprise other possible combinations or isolated types (N, NI, EI and I). CLASSIFICATION CURITIBA 88 has the advantage of being simple and practical, indicating before surgery the composition of the surgical team (neurosurgeon, ENT surgeon, and head and neck surgeon)

Glomus tumor of the colon. First reported case.

An adventitial glomus tumor found incidentally in a specimen of colon removed for a recurrent adenocarcinoma is reported. According to the author's knowledge, this is the first case of colonic glomus reported in the English medical literature.