LETTER TO THE EDITOR
Fine-Needle Aspiration Cytology of Melanotic Neuroectodermal Tumor of Infancy Dear Editor Melanotic neuroectodermal tumor of infancy (MNTI) is an uncommon benign neoplasm developed from neural crest.1,2 The tumor received the following list of names: retinal anlage tumor, pigmented ameloblastoma, melanotic adamantinoma, retinal choristoma, melanotic prognoma, and atypical melanoblastoma. The melanotic neuroectodermal tumor of infancy (MNTI) was so named by Borello and Gorlin.2 This tumor usually affects newborns and infants of less than 1 year of age1 with peak age at 2–6 months. MNTIs generally involve the head and neck region particularly in the maxilla (68–80%), but they may also be seen in the skull, mandible, brain, fontanelle, and epididymis.3–7 MNTI is a fast-growing benign tumor; however, it is locally aggressive and very rarely metastasizes.8,9 The tumor may recur after surgery in 20% cases.10 The aspiration cytological features of MNTI have been described rarely in the literature.11–13 Herein we describe the fine-needle aspiration cytology (FNAC) of three cases of MNTI. We retrieved these cases of MNTI form the archives of Department of Pathology, Post Graduate Institute of Medical Education and Research, Chandigarh from the year 2000 to 2014. FNAC were done by 20 mL syringe using a 23-gauge needle. Cell block preparation was attempted during the aspiration procedure which did not come off due to lack of particulate matter. There were two females and one male patient and the age range was from 6 to 15 months. All our patients presented with maxillary swelling of short duration ranging from 1 to 4 months. All the
Conflict of interest: There is no conflict of interest in this article. *Correspondence to: Dr Pranab Dey, MD, MIAC, FRC Path, Professor, Department of Cytology, Postgraduate Institute of Medical Education and Research, Chandigarh, India. E-mail: [email protected] Received 22 January 2015; Revised 3 May 2015; Accepted 22 June 2015 DOI: 10.1002/dc.23312 Published online 14 July 2015 in Wiley Online Library (wileyonlinelibrary.com).
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Diagnostic Cytopathology, Vol. 43, No 9
patients were lost to follow up except one that came with recurrence 6 months after excision of the swelling. Table I shows the detailed clinical features of all these cases. All the patients presented with maxillary swelling. The cytology smears in all three cases were highly cellular and showed predominantly discrete population of tumor cells (Fig. 1a). There were occasional loose clusters of cells and pseudo-rosette-like arrangement. The individual cells were round to oval with scanty cytoplasm. The nuclei were round and relatively monomorphic with fine stippled chromatin (Fig. 1b). Fibrillary background was noted in one case. Discrete large cells with abundant cytoplasm having brownish melanin pigment were also noted (Fig. 1c,d). Occasional mitosis was also noted in the smaller cells. Histopathology of the tumor lacked a definite capsule and showed an alveolar or glandular arrangement separated by fibrocollagenous tissue. The tumor cells have a distinct pattern with two cell population (Fig. 2a). The smaller neuroblastic cells were present in the center while the larger pigment-containing cells were located in the periphery. The peripheral margin of the tumor was irregular with foci of infiltration in the surrounding bone. Immunohistochemistry showed CD56 and Synaptophysin positivity in the smaller cells. The larger cells were positive for HMB-45 (Fig. 2b), epithelial membrane antigen (EMA), and neuron-specific enolase (NSE). These cells were negative for S-100 and Vimentin. MNTI is an uncommon benign tumor which can be completely cured by total excision. This tumor does not need any aggressive chemotherapy or radiotherapy such as the other small round cell tumors in pediatric population. Hence, a preoperative FNAC diagnosis may help in the management of the cases. If the dual population of tumor cells is present in the smear, the diagnosis becomes easier. In the absence of any pigment, the differential diagnosis of other pediatric round cell tumor should be considered (Ewings sarcoma/ C 2015 WILEY PERIODICALS, INC. V
Table I. Clinical and Radiological Features of Melanotic Neuroectodermal Tumor of Infancy Serial No.
Age/sex
Clinical/radiology
1
15 months/ female
2
06 months/ male
3
08 months/ female
Right maxillary swelling for 2–3 months, measuring 53432 cm Right maxillary swelling for 2 months, measuring 3 cm diam. Right maxillary swelling for 4 months, measuring 3.53333 cm
Fine-needle aspiration cytology
Histopathology
Yes
Yes
CD-56, HMB45 EMA, NSE, and synaptophysin positive
Lost
Yes
Not available
Not done
Lost
Yes
Yes
Not done
Recurrence after 6 months
Immunohistochemistry
Follow-up
Fig. 1. (a) Cytology smear shows discrete and loose clusters of tumor cells (May Grunwald Giemsa stain 2403). (b) Cytology smear shows large round cells with scanty cytoplasm and mildly pleomorphic nuclei having stippled chromatin (May Grunwald Giemsa stain 4403). (c) Smear shows cells in higher magnification containing brown pigment (hematoxylin and eosin stain 4403). (d) Large tumor cells with abundant pigment (May Grunwald Giemsa stain 4403). [Color figure can be viewed in the online issue, which is available at wileyonlinelibrary.com.]
Fig. 2. (a) Histology section shows aloveolar arrangement of cells having central smaller cells and larger peripheral cells (hematoxylin and eosin stain 2403). (b) Melan A positivity in the larger pigmented cells (Immunohistochemistry 2403). [Color figure can be viewed in the online issue, which is available at wileyonlinelibrary.com.]
Diagnostic Cytopathology DOI 10.1002/dc
GOCHHAIT ET AL.
primitive neuroectodermal tumor, metastatic neuroblastoma, rhabdomyosarcoma, and lymphoma). The absence of lymphoglandular bodies in the smear excluded the possibility of lymphoma in this case. Rhabdomyosarcoma usually show frequent bi- and multinucleation. Occasionally strap cells may be seen. The absence of rosettes also excluded the possibility of Ewings’ tumor. The presence of melanin pigment was characteristic diagnostic feature in the FNAC smear of MNTI. The application of panel of immunocytochemical markers particularly CD 56, synaptophysin, and HMB 45 is also helpful in the preoperative diagnosis of MNTI. FNAC of MNTI is characteristic. The smears show monomorphic round cells with prominent nucleoli and cytoplasmic melanin pigment. Immunocytochemistry is also helpful in the establishment of the diagnosis. Preoperative diagnosis of this rare tumor helps in the proper management.
2. Retna Kumari N, Sreedharan S, Balachandran D. Melanotic neuroectodermal tumour of infancy: A case report. J Indian Soc Pedod Prev Dent 2007; 25:148–151. 3. Agarwal P, Saxena S, Kumar S, Gupta R. Melanotic neuroectodermal tumor of infancy: Presentation of a case affecting the maxilla. J Oral Maxillofac Pathol 2010; 14:29–32.
Debasis Gochhait, MD, DNB Pranab Dey, MD, FRCPath, MIAC Suvradip Mitra, MD Uma Nahar Saikia, MD Department of Cytology Postgraduate Institute of Medical Education and Research Chandigarh, India Suvradeep Mtra and Uma Nahar Saikia Department of Pathology Postgraduate Institute of Medical Education and Research Chandigarh, India
9. Block JC, Waite DE, Dehner LP, Leonard AS, Ogle RG, Gatto DJ. Pigmented neuroectodermal tumor of infancy. An example of rarely expressed malignant behavior. Oral Surg Oral Med Oral Pathol 1980; 49:279–285.
References 1. Borello ED, Gorlin RJ. Melanotic neuroectodermal tumor of infancy—A neoplasm of neural crest origin. Report of a case associated with high urinary excretion of vanilmandelic acid. Cancer 1966; 19:196–206.
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Diagnostic Cytopathology, Vol. 43, No 9
4. Gaiger de Oliveira M, Thompson LD, Chaves AC, Rados PV, da Silva Lauxen I, Filho MS. Management of melanotic neuroectodermal tumor of infancy. Ann Diagn Pathol 2004; 8:207–212. 5. Haque S, McCarville MB, Sebire N, McHugh K. Melanotic neuroectodermal tumour of infancy: CT and MR findings. Pediatr Radiol 2012; 42:699–705. 6. Atkinson GO, Davis PC, Patrick LE, Winn KJ, Ball TI, Wyly JB. Melanotic neuroectodermal tumor of infancy: MR findings and review of literature. Pediatr Radiol 1989; 20:20–22. 7. El-Saggan A, Bang G, Olofsson J. Melanotic neuroectodermal tumour of infancy arising in the maxilla. J Laryngol Otol 1998; 112:61–64. 8. Cutler LS, Chaudhry AP, Topazian R. Melanotic neuroectodermal tumor of infancy: An ultrastructural study, literature review, and reevaluation. Cancer 1981; 48:257–270.
10. Kruse-Losler B, Gaertner C, Burger H, Seper L, Joos U, Kleinheinz J. Melanotic neuroectodermal tumor of infancy: Systematic review of the literature and presentation of a case. Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2006; 102:204–216. 11. Rao CR, Visweshwaraiah LD, Veerapaiah KS, Satpute SD, Hazarika D, Bhargava MK. Melanotic neuroectodermal tumor of infancy initially diagnosed by fine needle aspiration cytology. Acta Cytol 1990; 34:681–684. 12. Galera-Ruiz H, Gomez-Angel D, Vazquez-Ramirez FJ, SanguinoFabre JC, Salazar-Fernandez CI, Gonzalez-Hachero J. Fine needle aspiration in the pre-operative diagnosis of melanotic neuroectodermal tumour of infancy. J Laryngol Otol 1999; 113:581–584. 13. Al-Marzooq YM, Al-Bagshi MH, Chopra R, Hashish H. Melanotic neuroectodermal tumor of infancy in the soft tissues of the arm: Fine needle aspiration biopsy and histologic correlation-a case report. Diagn Cytopathol 2003; 29:52–55.
Fine-Needle Aspiration Cytology of Melanotic Neuroectodermal Tumor of Infancy Dear Editor Melanotic neuroectodermal tumor of infancy (MNTI) is an uncommon benign neoplasm developed from neural crest.1,2 The tumor received the following list of names: retinal anlage tumor, pigmented ameloblastoma, melanotic adamantinoma, retinal choristoma, melanotic prognoma, and atypical melanoblastoma. The melanotic neuroectodermal tumor of infancy (MNTI) was so named by Borello and Gorlin.2 This tumor usually affects newborns and infants of less than 1 year of age1 with peak age at 2–6 months. MNTIs generally involve the head and neck region particularly in the maxilla (68–80%), but they may also be seen in the skull, mandible, brain, fontanelle, and epididymis.3–7 MNTI is a fast-growing benign tumor; however, it is locally aggressive and very rarely metastasizes.8,9 The tumor may recur after surgery in 20% cases.10 The aspiration cytological features of MNTI have been described rarely in the literature.11–13 Herein we describe the fine-needle aspiration cytology (FNAC) of three cases of MNTI. We retrieved these cases of MNTI form the archives of Department of Pathology, Post Graduate Institute of Medical Education and Research, Chandigarh from the year 2000 to 2014. FNAC were done by 20 mL syringe using a 23-gauge needle. Cell block preparation was attempted during the aspiration procedure which did not come off due to lack of particulate matter. There were two females and one male patient and the age range was from 6 to 15 months. All our patients presented with maxillary swelling of short duration ranging from 1 to 4 months. All the
Conflict of interest: There is no conflict of interest in this article. *Correspondence to: Dr Pranab Dey, MD, MIAC, FRC Path, Professor, Department of Cytology, Postgraduate Institute of Medical Education and Research, Chandigarh, India. E-mail: [email protected] Received 22 January 2015; Revised 3 May 2015; Accepted 22 June 2015 DOI: 10.1002/dc.23312 Published online 14 July 2015 in Wiley Online Library (wileyonlinelibrary.com).
770
Diagnostic Cytopathology, Vol. 43, No 9
patients were lost to follow up except one that came with recurrence 6 months after excision of the swelling. Table I shows the detailed clinical features of all these cases. All the patients presented with maxillary swelling. The cytology smears in all three cases were highly cellular and showed predominantly discrete population of tumor cells (Fig. 1a). There were occasional loose clusters of cells and pseudo-rosette-like arrangement. The individual cells were round to oval with scanty cytoplasm. The nuclei were round and relatively monomorphic with fine stippled chromatin (Fig. 1b). Fibrillary background was noted in one case. Discrete large cells with abundant cytoplasm having brownish melanin pigment were also noted (Fig. 1c,d). Occasional mitosis was also noted in the smaller cells. Histopathology of the tumor lacked a definite capsule and showed an alveolar or glandular arrangement separated by fibrocollagenous tissue. The tumor cells have a distinct pattern with two cell population (Fig. 2a). The smaller neuroblastic cells were present in the center while the larger pigment-containing cells were located in the periphery. The peripheral margin of the tumor was irregular with foci of infiltration in the surrounding bone. Immunohistochemistry showed CD56 and Synaptophysin positivity in the smaller cells. The larger cells were positive for HMB-45 (Fig. 2b), epithelial membrane antigen (EMA), and neuron-specific enolase (NSE). These cells were negative for S-100 and Vimentin. MNTI is an uncommon benign tumor which can be completely cured by total excision. This tumor does not need any aggressive chemotherapy or radiotherapy such as the other small round cell tumors in pediatric population. Hence, a preoperative FNAC diagnosis may help in the management of the cases. If the dual population of tumor cells is present in the smear, the diagnosis becomes easier. In the absence of any pigment, the differential diagnosis of other pediatric round cell tumor should be considered (Ewings sarcoma/ C 2015 WILEY PERIODICALS, INC. V
Table I. Clinical and Radiological Features of Melanotic Neuroectodermal Tumor of Infancy Serial No.
Age/sex
Clinical/radiology
1
15 months/ female
2
06 months/ male
3
08 months/ female
Right maxillary swelling for 2–3 months, measuring 53432 cm Right maxillary swelling for 2 months, measuring 3 cm diam. Right maxillary swelling for 4 months, measuring 3.53333 cm
Fine-needle aspiration cytology
Histopathology
Yes
Yes
CD-56, HMB45 EMA, NSE, and synaptophysin positive
Lost
Yes
Not available
Not done
Lost
Yes
Yes
Not done
Recurrence after 6 months
Immunohistochemistry
Follow-up
Fig. 1. (a) Cytology smear shows discrete and loose clusters of tumor cells (May Grunwald Giemsa stain 2403). (b) Cytology smear shows large round cells with scanty cytoplasm and mildly pleomorphic nuclei having stippled chromatin (May Grunwald Giemsa stain 4403). (c) Smear shows cells in higher magnification containing brown pigment (hematoxylin and eosin stain 4403). (d) Large tumor cells with abundant pigment (May Grunwald Giemsa stain 4403). [Color figure can be viewed in the online issue, which is available at wileyonlinelibrary.com.]
Fig. 2. (a) Histology section shows aloveolar arrangement of cells having central smaller cells and larger peripheral cells (hematoxylin and eosin stain 2403). (b) Melan A positivity in the larger pigmented cells (Immunohistochemistry 2403). [Color figure can be viewed in the online issue, which is available at wileyonlinelibrary.com.]
Diagnostic Cytopathology DOI 10.1002/dc
GOCHHAIT ET AL.
primitive neuroectodermal tumor, metastatic neuroblastoma, rhabdomyosarcoma, and lymphoma). The absence of lymphoglandular bodies in the smear excluded the possibility of lymphoma in this case. Rhabdomyosarcoma usually show frequent bi- and multinucleation. Occasionally strap cells may be seen. The absence of rosettes also excluded the possibility of Ewings’ tumor. The presence of melanin pigment was characteristic diagnostic feature in the FNAC smear of MNTI. The application of panel of immunocytochemical markers particularly CD 56, synaptophysin, and HMB 45 is also helpful in the preoperative diagnosis of MNTI. FNAC of MNTI is characteristic. The smears show monomorphic round cells with prominent nucleoli and cytoplasmic melanin pigment. Immunocytochemistry is also helpful in the establishment of the diagnosis. Preoperative diagnosis of this rare tumor helps in the proper management.
2. Retna Kumari N, Sreedharan S, Balachandran D. Melanotic neuroectodermal tumour of infancy: A case report. J Indian Soc Pedod Prev Dent 2007; 25:148–151. 3. Agarwal P, Saxena S, Kumar S, Gupta R. Melanotic neuroectodermal tumor of infancy: Presentation of a case affecting the maxilla. J Oral Maxillofac Pathol 2010; 14:29–32.
Debasis Gochhait, MD, DNB Pranab Dey, MD, FRCPath, MIAC Suvradip Mitra, MD Uma Nahar Saikia, MD Department of Cytology Postgraduate Institute of Medical Education and Research Chandigarh, India Suvradeep Mtra and Uma Nahar Saikia Department of Pathology Postgraduate Institute of Medical Education and Research Chandigarh, India
9. Block JC, Waite DE, Dehner LP, Leonard AS, Ogle RG, Gatto DJ. Pigmented neuroectodermal tumor of infancy. An example of rarely expressed malignant behavior. Oral Surg Oral Med Oral Pathol 1980; 49:279–285.
References 1. Borello ED, Gorlin RJ. Melanotic neuroectodermal tumor of infancy—A neoplasm of neural crest origin. Report of a case associated with high urinary excretion of vanilmandelic acid. Cancer 1966; 19:196–206.
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Diagnostic Cytopathology, Vol. 43, No 9
4. Gaiger de Oliveira M, Thompson LD, Chaves AC, Rados PV, da Silva Lauxen I, Filho MS. Management of melanotic neuroectodermal tumor of infancy. Ann Diagn Pathol 2004; 8:207–212. 5. Haque S, McCarville MB, Sebire N, McHugh K. Melanotic neuroectodermal tumour of infancy: CT and MR findings. Pediatr Radiol 2012; 42:699–705. 6. Atkinson GO, Davis PC, Patrick LE, Winn KJ, Ball TI, Wyly JB. Melanotic neuroectodermal tumor of infancy: MR findings and review of literature. Pediatr Radiol 1989; 20:20–22. 7. El-Saggan A, Bang G, Olofsson J. Melanotic neuroectodermal tumour of infancy arising in the maxilla. J Laryngol Otol 1998; 112:61–64. 8. Cutler LS, Chaudhry AP, Topazian R. Melanotic neuroectodermal tumor of infancy: An ultrastructural study, literature review, and reevaluation. Cancer 1981; 48:257–270.
10. Kruse-Losler B, Gaertner C, Burger H, Seper L, Joos U, Kleinheinz J. Melanotic neuroectodermal tumor of infancy: Systematic review of the literature and presentation of a case. Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2006; 102:204–216. 11. Rao CR, Visweshwaraiah LD, Veerapaiah KS, Satpute SD, Hazarika D, Bhargava MK. Melanotic neuroectodermal tumor of infancy initially diagnosed by fine needle aspiration cytology. Acta Cytol 1990; 34:681–684. 12. Galera-Ruiz H, Gomez-Angel D, Vazquez-Ramirez FJ, SanguinoFabre JC, Salazar-Fernandez CI, Gonzalez-Hachero J. Fine needle aspiration in the pre-operative diagnosis of melanotic neuroectodermal tumour of infancy. J Laryngol Otol 1999; 113:581–584. 13. Al-Marzooq YM, Al-Bagshi MH, Chopra R, Hashish H. Melanotic neuroectodermal tumor of infancy in the soft tissues of the arm: Fine needle aspiration biopsy and histologic correlation-a case report. Diagn Cytopathol 2003; 29:52–55.
