Journal of the National Comprehensive Cancer Network : JNCCN, 2021
This case report describes an 18-year-old woman with an unusual epithelioid tumor of the omentum ... more This case report describes an 18-year-old woman with an unusual epithelioid tumor of the omentum with a novel PRRC2B-ALK fusion. Although the atypical pathologic features raised significant diagnostic challenges, expression of CD30 on tumor cells and detection of an ALK rearrangement provided critical information for selecting targeted therapy in a patient not suitable for surgical resection. Despite an initially promising therapeutic response, the patient died. The efficacy of treatment was confirmed by the lack of viable tumor cells at autopsy. This case highlights the role of timely targeted therapy in patients with rare tumors and novel actionable molecular targets.
We describe a rare pediatric case of a phalangeal giant cell tumor of bone with extensive bilater... more We describe a rare pediatric case of a phalangeal giant cell tumor of bone with extensive bilateral lung metastases following curettage, wide resection, and amputation. Concurrent peripheral blood eosinophilia and pleural effusion with marked eosinophilia (47%) were present. To discover genetic changes driving tumor metastasis, genomic and transcriptome profiling of the metastatic lung mass as well as germline analysis were performed. Whole exome sequencing detected a histone H3F3A p.G35V missense mutation in tumor cells. RNA sequencing revealed overexpression of receptor activator of nuclear factor kappa-B ligand (RANKL). The patient is alive with no residual disease and uncompromised respiratory function 29 months after amputation of primary tumor and 19 months after surgical resection of his metastatic lung disease.
Myeloid neoplasms with isolated deletion of the entire long arm del (16)(q11) are extremely rare,... more Myeloid neoplasms with isolated deletion of the entire long arm del (16)(q11) are extremely rare, and only three adult cases have been reported (Rogers et al., 2017). Two patients were diagnosed as myelodysplastic syndrome (MDS) with del(16)(q11) and one patient gained del(16)(q11) during progression from MDS to AML (Rogers et al., 2017). We report an exceptionally rare pediatric case of de novo AML with isolated del(16)(q11) with basophilia and eosinophilia. There were marked dysplastic changes in neutrophils, basophils and erythroid precursors, most consistent with AML with myelodysplasia-related changes (AML-MRC). The striking dysplastic features include premature nuclear lobation in immature myeloid cells and basophils without basophilic granules. The agranular basophils were initially counted as atypical monocytes erroneously, which were only recognized after flow cytometric analysis. This case demonstrates the power of flow cytometry in the practice of hematology by identifying the dysplastic agranular basophils, which were not described previously. A 15-year-old previously healthy male presented with progressive pallor and unintentional weight loss of 16 lb over 4 months. Complete blood count (CBC) revealed severe macrocytic anemia (hemoglobin: 6.1 g/dL, mean corpuscular volume: 106.4 fL), mild leukopenia (white blood cells [WBC]: 3.8 × 10/L), and moderate thrombocytopenia (platelets: 75 × 10/L). The initial WBC differential count on peripheral blood (PB) smear (aqueous Romanowsky stain) showed circulating blasts (15%), eosinophilia (15%, 570/μl), and relative monocytosis (22%). The majority of purported monocytes had atypical morphology. Flow cytometric analysis of PB (Figure 1a) detected increased myeloblasts (red, 22.7%), eosinophilia (pink, 16.4%), basophilia (brown, 19.4%) with normal percentage of monocytes (dark green, 3.1%). Table 1 lists the detailed immunophenotype of different WBC subsets. The basophils were intermediate-sized with low side light scatter (SSC) and partially overlapped with the lymphocytes on the forward side scatter (FSC)/SSC plot. They had moderate CD45 (dimmer than lymphocytes and brighter than myeloblasts), and bright CD123 without HLADR (Han et al., 2008). Neutrophils (blue, 2.9%) had decreased SSC, consistent with hypo-granular. The flow cytometric finding was diagnostic for acute myeloid leukemia (AML) with eosinophilia and basophilia. The findings of the flow cytometry prompted re-examination of the PB smear to identify the missed basophils. Typical basophils were not seen (Figure 1b, from a different patient). All basophils were counted as atypical monocytes initially due to lack of the typical basophilic cytoplasmic granules. Compared to a typical monocyte (Figure 1c), the basophils (Figure 1d–i) were smaller with a higher nuclear to cytoplasmic ratio, scant-to-moderate clear-to-pale cytoplasm with vacuoles, irregularly round-to oval, folded or multilobated nuclei with finely dispersed-to-condensed chromatin. Rare immature basophils contained inconspicuous nucleoli. Besides the lack of basophilic cytoplasmic granules, these basophils showed striking morphological similarity to normal basophils with respect to cell size, clear cytoplasm and lobulated nuclei. The varied nuclear shapes and heterogeneous levels of CD117 may reflect different maturation stages of basophils (Han et al., 2008). Bone marrow (BM) aspirate smears were stained with JennerGiemsa method. Except rare immature and mature basophils contained chunky basophilic granules (Figure 1j–l), the majority basophils were agranular (Figure 1m). To further confirm the loss of granules in basophils, BM smears were stained with Diff-Quik stain (Figure 1n) and Romanowsky stain with Basofix. Both are alcohol-based stains to fix the basophilic granules, which may be washed away with an aqueous Romanowsky stain. Both methods revealed basophilic granules in control but not in most basophils of our patient. In conclusion, the lack of granules in basophils was verified by four different staining methods. Hypogranular or agranular basophils have not been described previously and are not recognized by most laboratory personnel. Myeloblasts had large prominent nucleoli with varied morphological features, including prominent azurophilic granules with bilobed nuclei (Figure 1o), cytoplasmic blebs and/or Auer rods (Figure 1p), elongated nuclear grooves (Figure 1q). Marked dysplasia was observed in immature and mature neutrophilic granulocytes, eosinophils and erythroid precursors (Figure 1r–x). Ring sideroblasts were not seen. Megakaryocytes were decreased with unremarkable morphology on biopsy and were not seen on aspirate. Karyotype was 46,XY,del(16)(q11.1)[16]/46,XY[4]. Interphase FISH showed one CBFB signal in 88.7% of nuclei on BM aspirate (Figure 1y. Break-apart probes, red: proximal; green: distal). A 50-gene next generation sequencing panel for myeloid neoplasms detected two novel missense mutations: EZH2 c.2084C>T…
Journal of the National Comprehensive Cancer Network : JNCCN, 2021
This case report describes an 18-year-old woman with an unusual epithelioid tumor of the omentum ... more This case report describes an 18-year-old woman with an unusual epithelioid tumor of the omentum with a novel PRRC2B-ALK fusion. Although the atypical pathologic features raised significant diagnostic challenges, expression of CD30 on tumor cells and detection of an ALK rearrangement provided critical information for selecting targeted therapy in a patient not suitable for surgical resection. Despite an initially promising therapeutic response, the patient died. The efficacy of treatment was confirmed by the lack of viable tumor cells at autopsy. This case highlights the role of timely targeted therapy in patients with rare tumors and novel actionable molecular targets.
We describe a rare pediatric case of a phalangeal giant cell tumor of bone with extensive bilater... more We describe a rare pediatric case of a phalangeal giant cell tumor of bone with extensive bilateral lung metastases following curettage, wide resection, and amputation. Concurrent peripheral blood eosinophilia and pleural effusion with marked eosinophilia (47%) were present. To discover genetic changes driving tumor metastasis, genomic and transcriptome profiling of the metastatic lung mass as well as germline analysis were performed. Whole exome sequencing detected a histone H3F3A p.G35V missense mutation in tumor cells. RNA sequencing revealed overexpression of receptor activator of nuclear factor kappa-B ligand (RANKL). The patient is alive with no residual disease and uncompromised respiratory function 29 months after amputation of primary tumor and 19 months after surgical resection of his metastatic lung disease.
Myeloid neoplasms with isolated deletion of the entire long arm del (16)(q11) are extremely rare,... more Myeloid neoplasms with isolated deletion of the entire long arm del (16)(q11) are extremely rare, and only three adult cases have been reported (Rogers et al., 2017). Two patients were diagnosed as myelodysplastic syndrome (MDS) with del(16)(q11) and one patient gained del(16)(q11) during progression from MDS to AML (Rogers et al., 2017). We report an exceptionally rare pediatric case of de novo AML with isolated del(16)(q11) with basophilia and eosinophilia. There were marked dysplastic changes in neutrophils, basophils and erythroid precursors, most consistent with AML with myelodysplasia-related changes (AML-MRC). The striking dysplastic features include premature nuclear lobation in immature myeloid cells and basophils without basophilic granules. The agranular basophils were initially counted as atypical monocytes erroneously, which were only recognized after flow cytometric analysis. This case demonstrates the power of flow cytometry in the practice of hematology by identifying the dysplastic agranular basophils, which were not described previously. A 15-year-old previously healthy male presented with progressive pallor and unintentional weight loss of 16 lb over 4 months. Complete blood count (CBC) revealed severe macrocytic anemia (hemoglobin: 6.1 g/dL, mean corpuscular volume: 106.4 fL), mild leukopenia (white blood cells [WBC]: 3.8 × 10/L), and moderate thrombocytopenia (platelets: 75 × 10/L). The initial WBC differential count on peripheral blood (PB) smear (aqueous Romanowsky stain) showed circulating blasts (15%), eosinophilia (15%, 570/μl), and relative monocytosis (22%). The majority of purported monocytes had atypical morphology. Flow cytometric analysis of PB (Figure 1a) detected increased myeloblasts (red, 22.7%), eosinophilia (pink, 16.4%), basophilia (brown, 19.4%) with normal percentage of monocytes (dark green, 3.1%). Table 1 lists the detailed immunophenotype of different WBC subsets. The basophils were intermediate-sized with low side light scatter (SSC) and partially overlapped with the lymphocytes on the forward side scatter (FSC)/SSC plot. They had moderate CD45 (dimmer than lymphocytes and brighter than myeloblasts), and bright CD123 without HLADR (Han et al., 2008). Neutrophils (blue, 2.9%) had decreased SSC, consistent with hypo-granular. The flow cytometric finding was diagnostic for acute myeloid leukemia (AML) with eosinophilia and basophilia. The findings of the flow cytometry prompted re-examination of the PB smear to identify the missed basophils. Typical basophils were not seen (Figure 1b, from a different patient). All basophils were counted as atypical monocytes initially due to lack of the typical basophilic cytoplasmic granules. Compared to a typical monocyte (Figure 1c), the basophils (Figure 1d–i) were smaller with a higher nuclear to cytoplasmic ratio, scant-to-moderate clear-to-pale cytoplasm with vacuoles, irregularly round-to oval, folded or multilobated nuclei with finely dispersed-to-condensed chromatin. Rare immature basophils contained inconspicuous nucleoli. Besides the lack of basophilic cytoplasmic granules, these basophils showed striking morphological similarity to normal basophils with respect to cell size, clear cytoplasm and lobulated nuclei. The varied nuclear shapes and heterogeneous levels of CD117 may reflect different maturation stages of basophils (Han et al., 2008). Bone marrow (BM) aspirate smears were stained with JennerGiemsa method. Except rare immature and mature basophils contained chunky basophilic granules (Figure 1j–l), the majority basophils were agranular (Figure 1m). To further confirm the loss of granules in basophils, BM smears were stained with Diff-Quik stain (Figure 1n) and Romanowsky stain with Basofix. Both are alcohol-based stains to fix the basophilic granules, which may be washed away with an aqueous Romanowsky stain. Both methods revealed basophilic granules in control but not in most basophils of our patient. In conclusion, the lack of granules in basophils was verified by four different staining methods. Hypogranular or agranular basophils have not been described previously and are not recognized by most laboratory personnel. Myeloblasts had large prominent nucleoli with varied morphological features, including prominent azurophilic granules with bilobed nuclei (Figure 1o), cytoplasmic blebs and/or Auer rods (Figure 1p), elongated nuclear grooves (Figure 1q). Marked dysplasia was observed in immature and mature neutrophilic granulocytes, eosinophils and erythroid precursors (Figure 1r–x). Ring sideroblasts were not seen. Megakaryocytes were decreased with unremarkable morphology on biopsy and were not seen on aspirate. Karyotype was 46,XY,del(16)(q11.1)[16]/46,XY[4]. Interphase FISH showed one CBFB signal in 88.7% of nuclei on BM aspirate (Figure 1y. Break-apart probes, red: proximal; green: distal). A 50-gene next generation sequencing panel for myeloid neoplasms detected two novel missense mutations: EZH2 c.2084C>T…
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