Low-grade extraskeletal osteosarcoma of the chest wall: case report and review of literature

<p>Abstract</p> <p>Background</p> <p>Low-grade extraskeletal osteosarcomas (ESOS) are extremely rare.</p> <p>Case presentation</p> <p>We present the first case of low-grade ESOS of the chest wall, which occurred in a 30-year-old man. Because of initial misdiagnosis and patient's refusal of surgery, the diagnosis was done after a 4-year history of a slowly growing mass in soft tissues, leading to a huge (30-cm diameter) calcified mass locally extended over the left chest wall. Final diagnosis was helped by molecular analysis of <it>MDM2 </it>and <it>CDK4 </it>oncogenes. Unfortunately, at this time, no surgical treatment was possible due to loco-regional extension, and despite chemotherapy, the patient died one year after diagnosis, five years after the first symptoms.</p> <p>Conclusion</p> <p>We describe the clinical, radiological and bio-pathological features of this unique case, and review the literature concerning low-grade ESOS. Our case highlights the diagnostic difficulties for such very rare tumours and the interest of molecular analysis in ambiguous cases.</p

Caractérisation génétique d'une tumeur dermique (le dermatofibrosarcoma protuberans)

Le Dermatofibrosarcoma Protuberans (DP) est une tumeur dermique rare de malignité intermédiaire. Les travaux réalisés antérieurement au laboratoire avaient identifié de façon préliminaire un gène de fusion dans cette tumeur. Grâce à la mise au point d une RT-PCR multiplexe et de FISH bicolore adaptées aux prélèvements fixés et inclus en paraffine, nous avons étudié au niveau moléculaire la plus grande série de cas de DP à ce jour. Nous montrons que le gène de fusion COL1A1-PDGFB est pathognomonique du DP. De plus, nous l avons détecté dans des tumeurs proches comme le fibroblastome à cellules géantes, la tumeur de Bednar. Ces résultats nous ont permis d identifier une nouvelle famille de tumeur définie par la présence moléculaire du gène de fusion COL1A1-PDGFB. La variabilité de la localisation du point de cassure dans COL1A1 n est pas corrélée avec des paramètres cliniques ou histologiques. Nous avons notamment identifié pour la première fois le gène de fusion dans des cas congénitaux de DP. De plus, une étude par cytogénétique et RT-PCR nous a montré que la forme de l anomalie chromosomique est indépendante de la localisation du point de cassure dans COL1A1. En revanche, la forme de l anomalie chromosomique est corrélée avec l âge du patient. Les cas pédiatriques présentent exclusivement des translocations alors que les anneaux sont observés chez les adultes. Au cours de notre étude rétrospective, nous avons identifié 13 % de cas de DP. Nous avons identifié dans un cas de DP une nouvelle translocation t(5 ;8) dont notre étude montre l implication des gènes PTK2B et PDGFRB. PTK2B semble être le lieu d un point de cassure. Le gène PDGFRB semble être dérégulé puisque nous avons observé un niveau de transcription anormalement élevé similaire au niveau mesuré dans les DP avec le gène de fusion COL1A1.NICE-BU Sciences (060882101) / SudocSudocFranceF

Apport de la cytogénétique au diagnostic des carcinomes à cellules rénales

NICE-BU Médecine Odontologie (060882102) / SudocSudocFranceF

Absence de correlation entre le type moléculaire du gène de fusion COL1A1-PDGFB et la forme histologique ou clinique du dermatofibrosarcoma protuberans (description de 35 nouveaux cas et revue de la littérature)

NICE-BU Médecine Odontologie (060882102) / SudocPARIS-BIUM (751062103) / SudocSudocFranceF

Immunohistological Features in Adenomatoid Odontogenic Tumor: Review of the Literature and First Expression and Mutational Analysis of β-Catenin in This Unusual Lesion of the Jaws

To investigate for the first time the immunohistochemical and mutational status of β-catenin in a mandibular case of adenomatoid odontogenic tumor (AOT) and to review the immunohistochemical expression data of various markers (cytokeratins, metalloproteinases, etc) in such a lesio

Identification of New Translocation Breakpoints at 12q13 in Lipomas

Cytogenetic studies of banded chromosomes and fluorescencein situhybridization (FISH) of several yeast artificial chromosomes (YACs) that are part of a 128-kb resolution physical map of a portion of 12q13 revealed that 4/14 (28%) lipomas have breakpoints in 12q13. These breakpoints are more than 10 Mb away from theHMGICgene at 12q14–q15, which is known to be modified in some lipomas. FISH with individual YACs at 12q13 enabled us to identify four YACs that span three breakpoints. Our results suggest that genes other thanHMGICon human chromosome 12 may be involved in the etiology of lipoma development

HMGA2-NFIB fusion in a pediatric intramuscular lipoma: a novel case of NFIB alteration in a large deep-seated adipocytic tumor.

International audienceLipomas are frequently characterized by aberrations of the 12q13 approximately q15 chromosomal region and often by rearrangements of the HMGA2 gene. These rearrangements include the formation of chimeric genes that fuse the 5' region of HMGA2 with a variety of partners, such as LPP (3q28) or NFIB (9p22). We describe here the fourth reported case of lipoma showing a HMGA2-NFIB fusion, and the first one in a child. We found a translocation t(9;12)(p22;q14) in a deep-seated intramuscular lipoma occurring in the buttock of a 5-year-old boy. By fluorescence in situ hybridization and reverse-transcription polymerase chain reaction, we have shown that the translocation t(9;12) resulted in an in-frame fusion of the first four exons of HMGA2 with the last exon of NFIB. Intramuscular lipomas are very rare in childhood. Our results confirm that lipomas containing NFIB rearrangements may be related to peculiar clinicohistologic features, including large size, deep situation, infiltration of surrounding muscles, or precocious occurrence. Both the truncation of HMGA2 and the nature of its fusion partner gene might be relevant in the adipose tissue tumorigenesis

NFIB rearrangement in superficial, retroperitoneal, and colonic lipomas with aberrations involving chromosome band 9p22.

Lipomas are frequently characterized by rearrangements resulting in the fusion of the HMGA2 gene (12q14.3) with a variety of partners. Chromosome band 9p22 rearrangements occur in about 1% of lipomas. We report here the molecular cytogenetic analysis of five cases of lipoma with a 9p22 aberration, including the first cytogenetic analysis of a colonic lipoma. Three out of the five cases showed a rearrangement of NFIB at 9p22.3. The NFIB rearrangement involved a fusion with HMGA2 in two cases. We have identified an in-frame fusion of the first three exons of HMGA2 with exon 6 of MSRB3 (12q14.3) and exons 8 and 9 of NFIB by using 3'RACE-PCR in a case of superficial lipoma. In a case of retroperitoneal lipoma we found a fusion of HMGA2 with NFIB by fluorescence in situ hybridization analysis. The colonic lipoma was characterized by a t(9;16;19)(p22;q21;q13) with a rearrangement of NFIB and no rearrangement of HMGA2. NFIB belongs to the nuclear factor I transcription family. It has been previously shown to be fused with HMGA2 in one case of lipoma and to be a recurrent partner of HMGA2 in pleormorphic adenoma of salivary glands. We here demonstrate that NFIB can also be rearranged independently from HMGA2, indicating a potentially important role in lipoma pathobiology. Our findings suggest that the rearrangement of NFIB might be associated with deep-seated lipomas, such as retroperitoneal or gastro-intestinal lipomas. (c) 2008 Wiley-Liss, Inc

Primary epithelioid sarcoma of bone: report of a unique case, with immunohistochemical and fluorescent in situ hybridization confirmation of INI1 deletion.

International audienceWe report the clinical and pathologic features of, what is to the best of our knowledge, the first case of epithelioid sarcoma of bone. A 31-year-old woman with an unremarkable past medical history presented with pelvic pain and was found by computed tomography scan to have a destructive 5 cm, partially calcified intraosseous lesion of the iliac bone. Histologically, the tumor consisted of relatively uniform but clearly malignant-appearing epithelioid cells, with scattered rhabdoid-appearing cells. A hyalinized to partially calcified matrix was present between the tumor cells, with a "chickenwire" pattern of calcification. By immunohistochemistry, the neoplastic cells expressed cytokeratins, vimentin, epithelial membrane antigen and CD34, and showed complete loss of INI1 protein expression. Fluorescence in situ hybridization showed homozygous deletion of the INI1 gene. An extensive clinical and radiographic workup did not show evidence of a soft tissue tumor, and the diagnosis of a primary epithelioid sarcoma of bone was made. After this, the patient underwent a complete resection of her tumor, and is currently disease free, 6 months after surgery. These extremely rare tumors must be rigorously distinguished from other more common tumors of bone, in particular, chondroblastoma and osteosarcoma. Awareness that epithelioid sarcoma may occur in bone, careful histologic evaluation and ancillary immunohistochemistry for epithelial markers, CD34 and INI1 protein should allow for recognition of such tumors. Study of additional cases of primary epithelioid sarcoma of bone will be necessary to better understand its clinical behavior