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Collagenous fibroma (desmoplastic fibroblastoma) with a new translocation involving 11q12: a case report
Cancer Genetics and Cytogenetics 192 (2009) 73e75
Short communication
Collagenous fibroma (desmoplastic fibroblastoma) with a new translocation involving 11q12: a case report Amin Magharia,*, Naili Maa, Seena Aisnera, Joseph Beneveniab, Meera Hameeda a
Department of Pathology and Laboratory Medicine, University Hospital, New Jersey Medical School, E levele141, 150 Bergen Street, Newark, NJ 07103 b Department of Orthopedic Surgery, University Hospital, New Jersey Medical School, 150 Bergen Street, Newark, NJ 07103 Received 31 July 2008; received in revised form 11 March 2009; accepted 17 March 2009
Abstract
Collagenous fibroma (or desmoplastic fibroblastoma) is a rare, benign tumor usually centered in the subcutaneous tissue composed of spindle-shaped to stellate fibroblasts and myofibroblasts in a densely collagenous background. Three previous case reports have described a t(2;11)(q31;q12) in this entity. Herein, we report a case of collagenous fibroma of deep soft tissue with t(11;17)(q12;p11.2). The breakpoint at chromosome 11q12 appears to be pathogenetic in this rare neoplasm. Ó 2009 Elsevier Inc. All rights reserved.
1. Introduction Collagenous fibroma, also called desmoplastic fibroblastoma of soft tissue, is a rare benign tumor of predominantly adult men (70% between ages 40 and 69 years) first described by Evans in 1995 [1]. The tumor is usually centered in the subcutaneous tissue, in 70% of cases, and in 25% of cases involves deep soft tissue or skeletal muscle. Common locations include upper extremities, back, and feet. Pathologically, it is paucicellular, composed of uniform, often reactive-appearing, stellate fibroblasts and myofibroblasts separated by dense abundant collagen with variable myxoid stroma. Fibroblasts and myofibroblasts may have hyperchromatic nuclei and distinct nucleoli. Immunohistochemical stains often show positivity for vimentin and variable expression for a smooth muscle actin. The tumor is usually negative for desmin, EMA, S100, and CD34. Only three published cases of collagenous fibroma have been subjected to cytogenetic analysis [2,3]. A cytogenetically abnormal clone involving the 11q12 breakpoint was detected in all of these cases. Sciot et al. [2] described two cases. One, arising in the thigh of a 37-year-old man exhibited the karyotype 46,XY,t(2;11)(q31;q12),t(9;15)(q34;q14). The other case, from the dorsum of the hand in a 63-year-old man, exhibited a complex karyotype that likewise included a rearrangement involving the 11q12 breakpoint. Another report from the same research group noted that one case of * Corresponding author. Tel.: (973) 972-5707; fax: (973) 972-5724. E-mail address: [email protected] or hameedmr@ umdnj.edu (A. Maghari). 0165-4608/09/$ e see front matter Ó 2009 Elsevier Inc. All rights reserved. doi:10.1016/j.cancergencyto.2009.03.012
fibroma of tendon sheath has also shown an 11q12 rearrangement in the form of an identical t(2;11) [4]. Bernal et al. [3] detected a t(2;11)(q31;q12) in a case of collagenous fibroma arising in the supraclavicular fossa of a 55-year-old man, providing further evidence that the t(2;11)(q31;q12) is recurrent and nonrandomly associated with collagenous fibroma. Here we describe a new cytogenetic finding in a case of collagenous fibroma which has the same chromosomal rearrangement (11q12) but between chromosomes 11 and 17.
2. Case report A 54-year-old woman presented with a 2e3 months history of a mass in the medial aspect of the left knee. On physical examination, this mass was minimally tender. Her range of motion was from 0 to 95 . She was neurovascularly intact distally, and the skin was also intact. Diagnostic studies were performed prior to her admission, including magnetic resonance imaging, which showed a deep soft tissue mass with signal characteristic of a fibrous lesion. The diagnosis of collagenous fibroma was established after biopsy and the tumor was then resected. The resected specimen consisted of a well-circumscribed solid mass, measuring 7.5 5.0 2.8 cm. Sectioning of the tumor revealed ranging from tan to white cut surface without necrosis or hemorrhage. Histopathologic examination revealed a tumor with relatively uniform, reactive-appearing spindle-shaped and stellate cells within a collagenous and focally myxoid background. Some of the tumor cells had hyperchromatic nuclei and distinct nucleoli (Fig. 1). A
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A. Maghari et al. / Cancer Genetics and Cytogenetics 192 (2009) 73e75
Fig. 1. Tissue section from tumor showing uniform reactive-appearing stellate fibroblasts and myofibroblasts separated by dense abundant collagenous stroma (hematoxylineeosin stain; 400).
sterile, representative portion of the lesion was sent for cytogenetic analysis. Karyotypes were described according to ISCN 1995 [5].
3. Cytogenetic studies Cytogenetic studies revealed an abnormal clone in 14 of 20 metaphase cells examined in a female karyotype with translocation between chromosomes 11 and 17 (Fig. 2). The karyotype was 46,XX,t(11;17)(q12;p11.2)[14]/46,XX[6]. Fluorescent in situ hybridization studies on a metaphase preparation using chromosome 11 centromeric probe confirmed the location of the breakpoint to be the long arm of chromosome 11 (data not shown).
cytogenetically analyzed [2,3]. All four cases have shown chromosomal rearrangements with a breakpoint at 11q12. One case arising in the thigh of a 37-year-old man showed 46,XY,t(2;11)(q31;q12),t(9;15)(q34;q14) and a second case, from the dorsum of the hand in a 63-year-old man, exhibited a complex karyotype including a rearrangement involving the 11q12 breakpoint. In another study, a t(2;11)(q31;q12) was detected in a case of collagenous fibroma arising in the supraclavicular fossa of a 55-yearold man [3]. Similar translocation has been reported in a case of fibroma of tendon sheath [4]. Thus, the region of 11q12 appears to be commonly involved in these tumors. Given the limited karyotyping evaluation performed, cytogenetic analysis in the present case cannot completely rule out the possibility of cryptic or submicroscopic involvement of 2q31 unless a further comparative genomic hybridization or specific sequencing is performed. To date, no putative gene has been identified at this locus for these tumors. Chromosomal rearrangements involving 11q12 may be a useful diagnostic adjunct in distinguishing this lesion from its mimics, such as desmoid tumors and nodular fasciitis, in biopsy material. Desmoid tumors frequently show extra copies of chromosome 8 or 20 (or both) or loss of the 5q21~q22 region, which is the locus of the adenomatous polyposis coli gene (APC ) [10]. Nodular fasciitis of long duration can also resemble collagenous fibroma. Only three cases of nodular fasciitis have reportedly been cytogenetically characterized, and two of these showed rearrangements with a 3q21 breakpoint [11]. Immunoreactivity for CD34 antibody usually distinguishes extrapleural solitary fibrous tumor from collagenous fibroma.
References 4. Discussion Collagenous fibroma is a newly defined entity, with !100 reported cases [1e3,6e9]. The histologic diagnosis is based on the presence of uniform spindle-shaped to stellate fibroblasts and myofibroblasts embedded in an abundant, collagenous background. The differential diagnosis includes other benign spindle-cell tumors, such as fibroma of tendon sheath, desmoid tumor, and extrapleural solitary fibrous tumor. This present case brings to four the number of cases of collagenous fibroma that have been
Fig. 2. Partial karyogram shows the t(11;17)(q12;p11.2) translocation
[1] Evans HL. Desmoplastic fibroblastoma: a report of 7 cases. Am J Surg Pathol 1995;19:1077e81. [2] Sciot R, Samson I, Van den Berghe H, Van Damme B, Dal Cin P. Collagenous fibroma (desmoplastic fibroblastoma): genetic link with fibroma of tendon sheath? Mod Pathol 1999;12:565e8. [3] Bernal K, Nelson M, Neff JR, Nielsen SM, Bridge JA. Translocation (2;11)(q31;q12) is recurrent in collagenous fibroma (desmoplastic fibroblastoma). Cancer Genet Cytogenet 2004;149:161e3. [4] Dal Cin P, Sciot R, De Smet L, Van den Berghe H. Translocation 2;11 in fibroma of tendon sheath. Histopathology 1998;32:433e5. [5] ISCN 1995. an international system for human cytogenetic nomenclature(1995). Mitelman F, editor. Basel: S. Karger, 1995. [6] Nielsen GP, O’Connell JX, Dickersin GR, Rosenberg AE. Collagenous fibroma (desmoplastic fibroblastoma): a report of seven cases. Mod Pathol 1996;9:781e5. [7] Hasegawa T, Shimoda T, Hirohashi S, Hizawa K, Sano T. Collagenous fibroma (desmoplastic fibroblastoma): report of four cases and review of the literature. Arch Pathol Lab Med 1998;122:455e60. [8] Nishio J, Iwasaki H, Nishijima T, Kikuchi M. Collagenous fibroma (desmoplastic fibroblastoma) of the finger in a child. Pathol Int 2002;52:322e5. [9] Fukunaga M, Ushigome S. Collagenous fibroma (desmoplastic fibroblastoma): a distinctive fibroblastic soft tissue tumor. Adv Anat Pathol 1999;6:275e80.
A. Maghari et al. / Cancer Genetics and Cytogenetics 192 (2009) 73e75 [10] Bridge JA, Swarts SJ, Buresh C, Nelson M, Degenhardt JM, Spanier S, Maale G, Meloni A, Lynch JC, Neff JR. Trisomies 8 and 20 characterize a subgroup of benign fibrous lesions arising in both soft tissue and bone. Am J Pathol 1999;154:729e33.
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[11] Evans H, Bridge JA. Nodular fasciitis. In: Fletcher CDM, Unni KK, Mertens F, editors. Pathology and genetics of tumours of soft tissue and bone. WHO Classification of Tumours. Lyon: IARCPress, 2002, pp. 48e49.
Short communication
Collagenous fibroma (desmoplastic fibroblastoma) with a new translocation involving 11q12: a case report Amin Magharia,*, Naili Maa, Seena Aisnera, Joseph Beneveniab, Meera Hameeda a
Department of Pathology and Laboratory Medicine, University Hospital, New Jersey Medical School, E levele141, 150 Bergen Street, Newark, NJ 07103 b Department of Orthopedic Surgery, University Hospital, New Jersey Medical School, 150 Bergen Street, Newark, NJ 07103 Received 31 July 2008; received in revised form 11 March 2009; accepted 17 March 2009
Abstract
Collagenous fibroma (or desmoplastic fibroblastoma) is a rare, benign tumor usually centered in the subcutaneous tissue composed of spindle-shaped to stellate fibroblasts and myofibroblasts in a densely collagenous background. Three previous case reports have described a t(2;11)(q31;q12) in this entity. Herein, we report a case of collagenous fibroma of deep soft tissue with t(11;17)(q12;p11.2). The breakpoint at chromosome 11q12 appears to be pathogenetic in this rare neoplasm. Ó 2009 Elsevier Inc. All rights reserved.
1. Introduction Collagenous fibroma, also called desmoplastic fibroblastoma of soft tissue, is a rare benign tumor of predominantly adult men (70% between ages 40 and 69 years) first described by Evans in 1995 [1]. The tumor is usually centered in the subcutaneous tissue, in 70% of cases, and in 25% of cases involves deep soft tissue or skeletal muscle. Common locations include upper extremities, back, and feet. Pathologically, it is paucicellular, composed of uniform, often reactive-appearing, stellate fibroblasts and myofibroblasts separated by dense abundant collagen with variable myxoid stroma. Fibroblasts and myofibroblasts may have hyperchromatic nuclei and distinct nucleoli. Immunohistochemical stains often show positivity for vimentin and variable expression for a smooth muscle actin. The tumor is usually negative for desmin, EMA, S100, and CD34. Only three published cases of collagenous fibroma have been subjected to cytogenetic analysis [2,3]. A cytogenetically abnormal clone involving the 11q12 breakpoint was detected in all of these cases. Sciot et al. [2] described two cases. One, arising in the thigh of a 37-year-old man exhibited the karyotype 46,XY,t(2;11)(q31;q12),t(9;15)(q34;q14). The other case, from the dorsum of the hand in a 63-year-old man, exhibited a complex karyotype that likewise included a rearrangement involving the 11q12 breakpoint. Another report from the same research group noted that one case of * Corresponding author. Tel.: (973) 972-5707; fax: (973) 972-5724. E-mail address: [email protected] or hameedmr@ umdnj.edu (A. Maghari). 0165-4608/09/$ e see front matter Ó 2009 Elsevier Inc. All rights reserved. doi:10.1016/j.cancergencyto.2009.03.012
fibroma of tendon sheath has also shown an 11q12 rearrangement in the form of an identical t(2;11) [4]. Bernal et al. [3] detected a t(2;11)(q31;q12) in a case of collagenous fibroma arising in the supraclavicular fossa of a 55-year-old man, providing further evidence that the t(2;11)(q31;q12) is recurrent and nonrandomly associated with collagenous fibroma. Here we describe a new cytogenetic finding in a case of collagenous fibroma which has the same chromosomal rearrangement (11q12) but between chromosomes 11 and 17.
2. Case report A 54-year-old woman presented with a 2e3 months history of a mass in the medial aspect of the left knee. On physical examination, this mass was minimally tender. Her range of motion was from 0 to 95 . She was neurovascularly intact distally, and the skin was also intact. Diagnostic studies were performed prior to her admission, including magnetic resonance imaging, which showed a deep soft tissue mass with signal characteristic of a fibrous lesion. The diagnosis of collagenous fibroma was established after biopsy and the tumor was then resected. The resected specimen consisted of a well-circumscribed solid mass, measuring 7.5 5.0 2.8 cm. Sectioning of the tumor revealed ranging from tan to white cut surface without necrosis or hemorrhage. Histopathologic examination revealed a tumor with relatively uniform, reactive-appearing spindle-shaped and stellate cells within a collagenous and focally myxoid background. Some of the tumor cells had hyperchromatic nuclei and distinct nucleoli (Fig. 1). A
74
A. Maghari et al. / Cancer Genetics and Cytogenetics 192 (2009) 73e75
Fig. 1. Tissue section from tumor showing uniform reactive-appearing stellate fibroblasts and myofibroblasts separated by dense abundant collagenous stroma (hematoxylineeosin stain; 400).
sterile, representative portion of the lesion was sent for cytogenetic analysis. Karyotypes were described according to ISCN 1995 [5].
3. Cytogenetic studies Cytogenetic studies revealed an abnormal clone in 14 of 20 metaphase cells examined in a female karyotype with translocation between chromosomes 11 and 17 (Fig. 2). The karyotype was 46,XX,t(11;17)(q12;p11.2)[14]/46,XX[6]. Fluorescent in situ hybridization studies on a metaphase preparation using chromosome 11 centromeric probe confirmed the location of the breakpoint to be the long arm of chromosome 11 (data not shown).
cytogenetically analyzed [2,3]. All four cases have shown chromosomal rearrangements with a breakpoint at 11q12. One case arising in the thigh of a 37-year-old man showed 46,XY,t(2;11)(q31;q12),t(9;15)(q34;q14) and a second case, from the dorsum of the hand in a 63-year-old man, exhibited a complex karyotype including a rearrangement involving the 11q12 breakpoint. In another study, a t(2;11)(q31;q12) was detected in a case of collagenous fibroma arising in the supraclavicular fossa of a 55-yearold man [3]. Similar translocation has been reported in a case of fibroma of tendon sheath [4]. Thus, the region of 11q12 appears to be commonly involved in these tumors. Given the limited karyotyping evaluation performed, cytogenetic analysis in the present case cannot completely rule out the possibility of cryptic or submicroscopic involvement of 2q31 unless a further comparative genomic hybridization or specific sequencing is performed. To date, no putative gene has been identified at this locus for these tumors. Chromosomal rearrangements involving 11q12 may be a useful diagnostic adjunct in distinguishing this lesion from its mimics, such as desmoid tumors and nodular fasciitis, in biopsy material. Desmoid tumors frequently show extra copies of chromosome 8 or 20 (or both) or loss of the 5q21~q22 region, which is the locus of the adenomatous polyposis coli gene (APC ) [10]. Nodular fasciitis of long duration can also resemble collagenous fibroma. Only three cases of nodular fasciitis have reportedly been cytogenetically characterized, and two of these showed rearrangements with a 3q21 breakpoint [11]. Immunoreactivity for CD34 antibody usually distinguishes extrapleural solitary fibrous tumor from collagenous fibroma.
References 4. Discussion Collagenous fibroma is a newly defined entity, with !100 reported cases [1e3,6e9]. The histologic diagnosis is based on the presence of uniform spindle-shaped to stellate fibroblasts and myofibroblasts embedded in an abundant, collagenous background. The differential diagnosis includes other benign spindle-cell tumors, such as fibroma of tendon sheath, desmoid tumor, and extrapleural solitary fibrous tumor. This present case brings to four the number of cases of collagenous fibroma that have been
Fig. 2. Partial karyogram shows the t(11;17)(q12;p11.2) translocation
[1] Evans HL. Desmoplastic fibroblastoma: a report of 7 cases. Am J Surg Pathol 1995;19:1077e81. [2] Sciot R, Samson I, Van den Berghe H, Van Damme B, Dal Cin P. Collagenous fibroma (desmoplastic fibroblastoma): genetic link with fibroma of tendon sheath? Mod Pathol 1999;12:565e8. [3] Bernal K, Nelson M, Neff JR, Nielsen SM, Bridge JA. Translocation (2;11)(q31;q12) is recurrent in collagenous fibroma (desmoplastic fibroblastoma). Cancer Genet Cytogenet 2004;149:161e3. [4] Dal Cin P, Sciot R, De Smet L, Van den Berghe H. Translocation 2;11 in fibroma of tendon sheath. Histopathology 1998;32:433e5. [5] ISCN 1995. an international system for human cytogenetic nomenclature(1995). Mitelman F, editor. Basel: S. Karger, 1995. [6] Nielsen GP, O’Connell JX, Dickersin GR, Rosenberg AE. Collagenous fibroma (desmoplastic fibroblastoma): a report of seven cases. Mod Pathol 1996;9:781e5. [7] Hasegawa T, Shimoda T, Hirohashi S, Hizawa K, Sano T. Collagenous fibroma (desmoplastic fibroblastoma): report of four cases and review of the literature. Arch Pathol Lab Med 1998;122:455e60. [8] Nishio J, Iwasaki H, Nishijima T, Kikuchi M. Collagenous fibroma (desmoplastic fibroblastoma) of the finger in a child. Pathol Int 2002;52:322e5. [9] Fukunaga M, Ushigome S. Collagenous fibroma (desmoplastic fibroblastoma): a distinctive fibroblastic soft tissue tumor. Adv Anat Pathol 1999;6:275e80.
A. Maghari et al. / Cancer Genetics and Cytogenetics 192 (2009) 73e75 [10] Bridge JA, Swarts SJ, Buresh C, Nelson M, Degenhardt JM, Spanier S, Maale G, Meloni A, Lynch JC, Neff JR. Trisomies 8 and 20 characterize a subgroup of benign fibrous lesions arising in both soft tissue and bone. Am J Pathol 1999;154:729e33.
75
[11] Evans H, Bridge JA. Nodular fasciitis. In: Fletcher CDM, Unni KK, Mertens F, editors. Pathology and genetics of tumours of soft tissue and bone. WHO Classification of Tumours. Lyon: IARCPress, 2002, pp. 48e49.