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Melanotic progonoma of temporal and occipital bones: A case report
Neurochirurgie 59 (2013) 138–140
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Clinical case
Melanotic progonoma of temporal and occipital bones: A case report Progonome mélanotique des os occipital et temporal : à propos d’un cas S. Bellarbi a,∗ , A. Harmouch a , M.R. El Ochi a , M. Fikri b , Y. Arkha c , S. Sefiani a a
Laboratoire d’anatomie pathologique, hôpital des spécialités, CHU Rabat, Rabat, Morocco Service de neurochirurgie, hôpital des spécialités, CHU Rabat, Rabat, Morocco c Service de radiologie, hôpital des spécialités, CHU Rabat, Rabat, Morocco b
a r t i c l e
i n f o
Article history: Received 9 October 2012 Accepted 25 February 2013 Keywords: Melanotic progonoma Melanotic neuroectodermal tumor of infancy Skull Pathology
a b s t r a c t Melanotic progonoma is a rare tumor that primarily affects the maxilla of infants during the first year of life. Involvement in the skull is rare and can mimick other benign or malignant tumors affecting the infant’s skull. The authors report a case of melanotic progonoma of right occipital and temporal bones in a 7-months’ girl and discuss the histological features, immunohistochemistry study, differential diagnosis and management of this tumor. © 2013 Elsevier Masson SAS. All rights reserved.
r é s u m é Mots clés : Progonome mélanotique Tumeur mélanotique neuroectodermique de l’enfant Crâne Anatomie pathologique
Le progonome mélanotique est une tumeur rare qui affecte primitivement l’os maxillaire des enfants durant la première année de vie. L’atteinte de la voûte crânienne est rare et fait discuter d’autres tumeurs bénignes ou malignes du nourrisson affectant les os du crâne. L’objectif de cet article est de commenter à travers l’observation d’une fillette de sept mois présentant un progonome mélanotique occipito-temporal droit, les aspects histologiques, immunohistochimiques, les diagnostics différentiels et la prise en charge de cette tumeur. © 2013 Elsevier Masson SAS. Tous droits réservés.
1. Introduction
2. Case report
Melanotic progonoma or melanotic neuroectodermal tumor of infancy (MNTI) is a rare pigmented neoplasm, mainly involving the head and neck. The skull is a rare location and the common one is the anterior fontanelle. In the literature review of Lambropoulos et al., including cases of MNTI in the period 1977–2008, only one case of melanotic progonoma in the occipito-temporal location was reported [1]. This tumor growths rapidly and displays locally aggressive behavior. In skull, it may extend to the meninges and intracranial structures making surgical removal at risk. It requires early diagnosis and radical surgery to ensure long-term recovery [2].
A 7-months’ girl, who presented since birth a rapidly growing mass of the right retro-auricular region. Neurological examination was normal. There was no associated lesion. Computed tomography (CT) showed a right occipito-temporal mass measuring 32 × 33 × 32 mm, hyperdense and osteolytic after contrast administration (Fig. 1). At cranial magnetic resonance imaging (MRI), the signal of the lesion was hypointense on T1 and intermediate on T2. It was associated with an intracranial mass effect (Fig. 2). CT and MRI were in favor of an inflammatory disease of the right temporal and occipital bones. Surgical exploration found a retro-mastoid process infiltrating the dura mater. A total excision of the mass was performed. In our laboratory, we received a gray-blue, smooth mass, of bone consistency, measuring 4.5 × 3 cm (Fig. 3). On microscopic study, this mass was non-encapsulated, composed of a dual population of small neuroblastic cells and larger
∗ Corresponding author. E-mail address: [email protected] (S. Bellarbi). 0028-3770/$ – see front matter © 2013 Elsevier Masson SAS. All rights reserved. http://dx.doi.org/10.1016/j.neuchi.2013.02.007
S. Bellarbi et al. / Neurochirurgie 59 (2013) 138–140
Fig. 1. Axial cranial CT image (bone window) showing an hyperdense and osteolytic process of right temporal and occipital bones. Coupe axiale d’une TDM du crâne (fenêtre osseuse), montrant un processus hyperdense et ostéolytique des os temporal et occipital droits.
139
Fig. 3. Macroscopic appearance of the tumor: a rounded nodule with smooth surface, bone consistency and blue-gray color. Aspect macroscopique de la tumeur : nodule arrondi, à surface lisse, de consistance osseuse et de couleur bleu-grise.
epithelial cells. The small cells were round with regular nucleus and were arranged in nests within a fibrillary background. The epithelial cells had vesicular nucleus and large cytoplasm containing melanin granules. They were forming islands within a fibrous stroma (Fig. 4). There was neither necrosis nor mitosis. This proliferation infiltrated the meninges but the excision was complete. At immunohistochemical study, the tumor showed polyphenotypic expression of epithelial, neuronal and melanotic markers. The epithelial cells expressed cytokeratin, EMA, GFAP and HMB45 while neuroblastoma-like cells expressed anti-synaptophysin. The diagnosis of melanotic progonoma of temporal bone was made. At 16 months follow-up, there was no clinical recurrence.
Fig. 4. Nests of neuroblastic cells (star) within a fibrillar stroma associated to islands of epithelial cells containing melanin deposits (triangle) within a fibrous stroma (hematoxylin and eosin stain, magnification × 200). Nids de cellules neuroblastiques (étoile) au sein d’un stroma fibrillaire (triangle) associés à des îlots de cellules épithéliales contenant du pigment mélanique (triangle) au sein d’un stroma fibreux (hématoxyline éosine, grossissement × 200).
3. Discussion
Fig. 2. Axial cranial MRI showing an hypointense process of right temporal and occipital bones with intermediated signal on T2 weighted images. IRM du crâne en T2, montrant un processus occipito-temporal droit de signal intermédiaire.
Since its first description by Krompecher in 1918, about 360 cases of melanotic progonoma have been reported in the literature, often in single case studies [3]. This rare tumor occurs mainly during the first year of life, without gender predilection. The head and neck are the most common location, mainly the maxilla (80%). More than 40 cases of melanotic progonoma of the skull have been reported, among which less than twenty were located in temporal or occipital bones and only one was reported in both bones as in our case [1,4]. Clinically, the infant was asymptomatic with a retro-auricular mass, painless, rapidly increasing in size [1]. This mass was firm, non-ulcerated and pigmented. The cranial CT showed hyperdense and osteolytic tumor. At magnetic resonance imaging (MRI), it was
140
S. Bellarbi et al. / Neurochirurgie 59 (2013) 138–140
hypo-intense on T1. Imaging does not confirm the diagnosis; however it allows to evaluate the intracranial extension and it’s a good guide for surgical excision [5]. The differential diagnosis is mainly made in infants with Langerhans cell histiocytosis. When it is unifocal, cranial localization of langerhans cell histiocytosis is the most common. It presents as a painless mass that increases in volume and performs imaging appearance of rounded osteolytic lesion. Other lesions of the skull affecting infants, which can be benign such as dermoid cyst, epidermal cyst and cephalhematoma, or malignant like small round cell tumors (rhabdomyosarcoma, neuroblastoma, Ewing’s sarcoma), are also considered [6]. Only histology confirms the diagnosis. MNTI is nonencapsulated and biphasic tumor, made of a mixture of islands of epithelial cells resembling melanocytes, surrounded by nests of neuroblastic-like cells within a dense fibrous stroma. Mitosis and necrosis are rare or absent. In the immunohistochemical study, a polyphenotypic expression of tumor cells to epithelial (cytokeratin, EMA), neuronal (GFAP, NSE, synaptophysin) and melanocytic (HMB45) markers are found [7–9]. The melanotic progonoma of the cranial vault is a locally aggressive tumor. Only radical surgery with clear margins allows a favorable long-term outcome. This tumor is characterized by rapid growth and risk of meningal (as in our case) or intracranial extension, making surgery more difficult [2]. In our case, the neurosurgeon was able to achieve a complete tumor removal confirmed by histological study. The recurrence rate is 10–15% [10] related to incomplete surgical resection due to the ill-encapsulated character of the tumor [1]. Several cases of malignant transformation with metastasis have been reported in the literature. They are associated with a high mortality rate [9]. Surgery associated with chemotherapy constitutes the treatment of malignant MNTI [1]. So far, as the role of radiotherapy is not clearly established [11]. In our case, there was no metastasis and surgical resection was complete; no adjuvant treatment was necessary. MNTI is a rare tumor that should be included in the diagnosis of skull mass in infants. Because of its rapid development and the
risk of intracranial extension, the diagnosis must be early and radical excision has to be confirmed by histological examination. The considerable rate of recurrence and the possibility of malignant transformation require post-therapeutic follow-up [12]. Disclosure of interest The authors declare that they have no conflicts of interest concerning this article. References [1] Lambropoulos V, Neofytou A, Sfougaris D, Mouravas V, Petropoulos A. Melanotic neuroectodermal tumor of infancy (MNTI) arising in the skull. Short review of two cases. Acta Neurochir 2010;152:869–75. [2] Paueksakon P, Parker JR, Fan X, Miles G, Ruiz H, Wushensky C, et al. Melanotic neuroectodermal tumour of infancy discovered after head trauma. Pediatr Neurosurg 2002;36:33–6. [3] Kruse-Losler B, Gaertner C, Burger H, et al. Melanotic neuroectodermal tumour of infancy: systematic review of the literature and presentation of a case. Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2006;102:204–16. [4] Matsumoto M, Sakuma J, Suzuki K, Kawakami M, Sasaki T, Kodama N. Melanotic neuroectodermal tumor of infancy in the skull: case report and review of the literature. Surg Neurol 2005;63:275–80. [5] Mirich DR, Blaser SI, Harwood-Nash DC, Armstrong DC, Becker LE, Posnick JC. Melanotic neuroectodermal tumor of infancy: clinical, radiologic, and pathologic findings in five cases. Am J Neuroradiol 1991;12:689–97. [6] Gibson SE, Prayson RA. Primary skull lesions in the pediatric population: a 25year experience. Arch Pathol Lab Med 2007;131:761–6. [7] Barrett W, Ramsay D, Farthing M. A clinicopathologic and immunohistochemical analysis of melanotic neuroectodermal tumor of infancy. Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2002;93:688–98. [8] Rickert CH, Probst-Cousin S, Blasius S, Gullotta F. Melanotic progonoma of the brain: a case report and review. Childs Nerv Syst 1998;14:389–93. [9] Kapadia SB, Frisman DM, Hitchcock CL, et al. Melanotic neuroectodermal tumor of infancy. Clinicopathological, immunohistochemical, and flow cytometric study Am J Surg Pathol 1993;17:566–73. [10] Woessmann W, Neugebauer M, Gossen R, Blütters-Sawatzki R, Reiter A. Successful chemotherapy for melanotic neuroectodermal tumor of infancy in a baby. Med Pediatr Oncol 2003;40:198–9. [11] Kantar M, Sezak M, Turhan T, et al. Melanotic progonoma of the skull in infancy. Childs Nerv Syst 2008;24:1371–5. [12] Antunes AC, Freitas RM, Oliveira PP, Rebouc¸as RG. Melanotic neuroectodermal tumour of infancy: case report. Arq Neuropsiquiatr 2005;63:670–2.
Disponible en ligne sur
www.sciencedirect.com
Clinical case
Melanotic progonoma of temporal and occipital bones: A case report Progonome mélanotique des os occipital et temporal : à propos d’un cas S. Bellarbi a,∗ , A. Harmouch a , M.R. El Ochi a , M. Fikri b , Y. Arkha c , S. Sefiani a a
Laboratoire d’anatomie pathologique, hôpital des spécialités, CHU Rabat, Rabat, Morocco Service de neurochirurgie, hôpital des spécialités, CHU Rabat, Rabat, Morocco c Service de radiologie, hôpital des spécialités, CHU Rabat, Rabat, Morocco b
a r t i c l e
i n f o
Article history: Received 9 October 2012 Accepted 25 February 2013 Keywords: Melanotic progonoma Melanotic neuroectodermal tumor of infancy Skull Pathology
a b s t r a c t Melanotic progonoma is a rare tumor that primarily affects the maxilla of infants during the first year of life. Involvement in the skull is rare and can mimick other benign or malignant tumors affecting the infant’s skull. The authors report a case of melanotic progonoma of right occipital and temporal bones in a 7-months’ girl and discuss the histological features, immunohistochemistry study, differential diagnosis and management of this tumor. © 2013 Elsevier Masson SAS. All rights reserved.
r é s u m é Mots clés : Progonome mélanotique Tumeur mélanotique neuroectodermique de l’enfant Crâne Anatomie pathologique
Le progonome mélanotique est une tumeur rare qui affecte primitivement l’os maxillaire des enfants durant la première année de vie. L’atteinte de la voûte crânienne est rare et fait discuter d’autres tumeurs bénignes ou malignes du nourrisson affectant les os du crâne. L’objectif de cet article est de commenter à travers l’observation d’une fillette de sept mois présentant un progonome mélanotique occipito-temporal droit, les aspects histologiques, immunohistochimiques, les diagnostics différentiels et la prise en charge de cette tumeur. © 2013 Elsevier Masson SAS. Tous droits réservés.
1. Introduction
2. Case report
Melanotic progonoma or melanotic neuroectodermal tumor of infancy (MNTI) is a rare pigmented neoplasm, mainly involving the head and neck. The skull is a rare location and the common one is the anterior fontanelle. In the literature review of Lambropoulos et al., including cases of MNTI in the period 1977–2008, only one case of melanotic progonoma in the occipito-temporal location was reported [1]. This tumor growths rapidly and displays locally aggressive behavior. In skull, it may extend to the meninges and intracranial structures making surgical removal at risk. It requires early diagnosis and radical surgery to ensure long-term recovery [2].
A 7-months’ girl, who presented since birth a rapidly growing mass of the right retro-auricular region. Neurological examination was normal. There was no associated lesion. Computed tomography (CT) showed a right occipito-temporal mass measuring 32 × 33 × 32 mm, hyperdense and osteolytic after contrast administration (Fig. 1). At cranial magnetic resonance imaging (MRI), the signal of the lesion was hypointense on T1 and intermediate on T2. It was associated with an intracranial mass effect (Fig. 2). CT and MRI were in favor of an inflammatory disease of the right temporal and occipital bones. Surgical exploration found a retro-mastoid process infiltrating the dura mater. A total excision of the mass was performed. In our laboratory, we received a gray-blue, smooth mass, of bone consistency, measuring 4.5 × 3 cm (Fig. 3). On microscopic study, this mass was non-encapsulated, composed of a dual population of small neuroblastic cells and larger
∗ Corresponding author. E-mail address: [email protected] (S. Bellarbi). 0028-3770/$ – see front matter © 2013 Elsevier Masson SAS. All rights reserved. http://dx.doi.org/10.1016/j.neuchi.2013.02.007
S. Bellarbi et al. / Neurochirurgie 59 (2013) 138–140
Fig. 1. Axial cranial CT image (bone window) showing an hyperdense and osteolytic process of right temporal and occipital bones. Coupe axiale d’une TDM du crâne (fenêtre osseuse), montrant un processus hyperdense et ostéolytique des os temporal et occipital droits.
139
Fig. 3. Macroscopic appearance of the tumor: a rounded nodule with smooth surface, bone consistency and blue-gray color. Aspect macroscopique de la tumeur : nodule arrondi, à surface lisse, de consistance osseuse et de couleur bleu-grise.
epithelial cells. The small cells were round with regular nucleus and were arranged in nests within a fibrillary background. The epithelial cells had vesicular nucleus and large cytoplasm containing melanin granules. They were forming islands within a fibrous stroma (Fig. 4). There was neither necrosis nor mitosis. This proliferation infiltrated the meninges but the excision was complete. At immunohistochemical study, the tumor showed polyphenotypic expression of epithelial, neuronal and melanotic markers. The epithelial cells expressed cytokeratin, EMA, GFAP and HMB45 while neuroblastoma-like cells expressed anti-synaptophysin. The diagnosis of melanotic progonoma of temporal bone was made. At 16 months follow-up, there was no clinical recurrence.
Fig. 4. Nests of neuroblastic cells (star) within a fibrillar stroma associated to islands of epithelial cells containing melanin deposits (triangle) within a fibrous stroma (hematoxylin and eosin stain, magnification × 200). Nids de cellules neuroblastiques (étoile) au sein d’un stroma fibrillaire (triangle) associés à des îlots de cellules épithéliales contenant du pigment mélanique (triangle) au sein d’un stroma fibreux (hématoxyline éosine, grossissement × 200).
3. Discussion
Fig. 2. Axial cranial MRI showing an hypointense process of right temporal and occipital bones with intermediated signal on T2 weighted images. IRM du crâne en T2, montrant un processus occipito-temporal droit de signal intermédiaire.
Since its first description by Krompecher in 1918, about 360 cases of melanotic progonoma have been reported in the literature, often in single case studies [3]. This rare tumor occurs mainly during the first year of life, without gender predilection. The head and neck are the most common location, mainly the maxilla (80%). More than 40 cases of melanotic progonoma of the skull have been reported, among which less than twenty were located in temporal or occipital bones and only one was reported in both bones as in our case [1,4]. Clinically, the infant was asymptomatic with a retro-auricular mass, painless, rapidly increasing in size [1]. This mass was firm, non-ulcerated and pigmented. The cranial CT showed hyperdense and osteolytic tumor. At magnetic resonance imaging (MRI), it was
140
S. Bellarbi et al. / Neurochirurgie 59 (2013) 138–140
hypo-intense on T1. Imaging does not confirm the diagnosis; however it allows to evaluate the intracranial extension and it’s a good guide for surgical excision [5]. The differential diagnosis is mainly made in infants with Langerhans cell histiocytosis. When it is unifocal, cranial localization of langerhans cell histiocytosis is the most common. It presents as a painless mass that increases in volume and performs imaging appearance of rounded osteolytic lesion. Other lesions of the skull affecting infants, which can be benign such as dermoid cyst, epidermal cyst and cephalhematoma, or malignant like small round cell tumors (rhabdomyosarcoma, neuroblastoma, Ewing’s sarcoma), are also considered [6]. Only histology confirms the diagnosis. MNTI is nonencapsulated and biphasic tumor, made of a mixture of islands of epithelial cells resembling melanocytes, surrounded by nests of neuroblastic-like cells within a dense fibrous stroma. Mitosis and necrosis are rare or absent. In the immunohistochemical study, a polyphenotypic expression of tumor cells to epithelial (cytokeratin, EMA), neuronal (GFAP, NSE, synaptophysin) and melanocytic (HMB45) markers are found [7–9]. The melanotic progonoma of the cranial vault is a locally aggressive tumor. Only radical surgery with clear margins allows a favorable long-term outcome. This tumor is characterized by rapid growth and risk of meningal (as in our case) or intracranial extension, making surgery more difficult [2]. In our case, the neurosurgeon was able to achieve a complete tumor removal confirmed by histological study. The recurrence rate is 10–15% [10] related to incomplete surgical resection due to the ill-encapsulated character of the tumor [1]. Several cases of malignant transformation with metastasis have been reported in the literature. They are associated with a high mortality rate [9]. Surgery associated with chemotherapy constitutes the treatment of malignant MNTI [1]. So far, as the role of radiotherapy is not clearly established [11]. In our case, there was no metastasis and surgical resection was complete; no adjuvant treatment was necessary. MNTI is a rare tumor that should be included in the diagnosis of skull mass in infants. Because of its rapid development and the
risk of intracranial extension, the diagnosis must be early and radical excision has to be confirmed by histological examination. The considerable rate of recurrence and the possibility of malignant transformation require post-therapeutic follow-up [12]. Disclosure of interest The authors declare that they have no conflicts of interest concerning this article. References [1] Lambropoulos V, Neofytou A, Sfougaris D, Mouravas V, Petropoulos A. Melanotic neuroectodermal tumor of infancy (MNTI) arising in the skull. Short review of two cases. Acta Neurochir 2010;152:869–75. [2] Paueksakon P, Parker JR, Fan X, Miles G, Ruiz H, Wushensky C, et al. Melanotic neuroectodermal tumour of infancy discovered after head trauma. Pediatr Neurosurg 2002;36:33–6. [3] Kruse-Losler B, Gaertner C, Burger H, et al. Melanotic neuroectodermal tumour of infancy: systematic review of the literature and presentation of a case. Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2006;102:204–16. [4] Matsumoto M, Sakuma J, Suzuki K, Kawakami M, Sasaki T, Kodama N. Melanotic neuroectodermal tumor of infancy in the skull: case report and review of the literature. Surg Neurol 2005;63:275–80. [5] Mirich DR, Blaser SI, Harwood-Nash DC, Armstrong DC, Becker LE, Posnick JC. Melanotic neuroectodermal tumor of infancy: clinical, radiologic, and pathologic findings in five cases. Am J Neuroradiol 1991;12:689–97. [6] Gibson SE, Prayson RA. Primary skull lesions in the pediatric population: a 25year experience. Arch Pathol Lab Med 2007;131:761–6. [7] Barrett W, Ramsay D, Farthing M. A clinicopathologic and immunohistochemical analysis of melanotic neuroectodermal tumor of infancy. Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2002;93:688–98. [8] Rickert CH, Probst-Cousin S, Blasius S, Gullotta F. Melanotic progonoma of the brain: a case report and review. Childs Nerv Syst 1998;14:389–93. [9] Kapadia SB, Frisman DM, Hitchcock CL, et al. Melanotic neuroectodermal tumor of infancy. Clinicopathological, immunohistochemical, and flow cytometric study Am J Surg Pathol 1993;17:566–73. [10] Woessmann W, Neugebauer M, Gossen R, Blütters-Sawatzki R, Reiter A. Successful chemotherapy for melanotic neuroectodermal tumor of infancy in a baby. Med Pediatr Oncol 2003;40:198–9. [11] Kantar M, Sezak M, Turhan T, et al. Melanotic progonoma of the skull in infancy. Childs Nerv Syst 2008;24:1371–5. [12] Antunes AC, Freitas RM, Oliveira PP, Rebouc¸as RG. Melanotic neuroectodermal tumour of infancy: case report. Arq Neuropsiquiatr 2005;63:670–2.